Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Syne1'

512076

Institutional Source

Beutler Lab

Gene Symbol

Syne1

Ensembl Gene

ENSMUSG00000096054

Gene Name

spectrin repeat containing, nuclear envelope 1

Synonyms

C130039F11Rik, enaptin165, SYNE-1, nesprin-1, A330049M09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4548 ()

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

4970917-5501482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4982969 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Serine to Isoleucine at position 8652 (S8652I)

Ref Sequence

ENSEMBL: ENSMUSP00000150262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095899] [ENSMUST00000215295]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095899
AA Change: S802I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093587
Gene: ENSMUSG00000096054
AA Change: S802I

Domain	Start	End	E-Value	Type
SPEC	43	150	6.95e-13	SMART
SPEC	157	259	1.55e-10	SMART
SPEC	266	366	3.4e-16	SMART
low complexity region	372	386	N/A	INTRINSIC
low complexity region	403	421	N/A	INTRINSIC
low complexity region	459	468	N/A	INTRINSIC
coiled coil region	483	505	N/A	INTRINSIC
SPEC	595	698	6.9e-17	SMART
SPEC	705	809	8.82e-1	SMART
low complexity region	811	826	N/A	INTRINSIC
low complexity region	869	882	N/A	INTRINSIC
KASH	892	949	5.15e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175448

Predicted Effect

probably benign
Transcript: ENSMUST00000215295
AA Change: S8652I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,634,886 (GRCm39)		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
Ahdc1	T	TCCC	4: 132,790,071 (GRCm39)		probably benign	Homo
Ahdc1	TCC	TCCCCC	4: 132,790,068 (GRCm39)		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,475,259 (GRCm39)		probably benign	Het
AI837181	CG	CGGGG	19: 5,475,265 (GRCm39)		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,387,485 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apol6	T	TGTTA	15: 76,935,645 (GRCm39)		probably null	Homo
Blm	CTAC	CTACTTAC	7: 80,113,517 (GRCm39)		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Bud31	C	T	5: 145,083,345 (GRCm39)	R63C	probably benign	Het
C4b	C	T	17: 34,959,971 (GRCm39)	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,486,297 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cckbr	GGGC	G	7: 105,083,888 (GRCm39)		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,306,681 (GRCm39)		probably benign	Homo
Ces1b	T	C	8: 93,794,720 (GRCm39)	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,631,999 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,080,420 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,405 (GRCm39)		probably benign	Het
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	GTGA	GTGAATGA	13: 61,685,651 (GRCm39)		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,726 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,241,729 (GRCm39)		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCATC	2: 57,938,087 (GRCm39)		probably benign	Het
Ermn	TC	TCTCC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,244 (GRCm39)		probably null	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Fscb	T	A	12: 64,519,339 (GRCm39)	Q709L	unknown	Het
Glod4	A	C	11: 76,134,136 (GRCm39)		probably benign	Homo
Gm14401	A	G	2: 176,778,661 (GRCm39)	D249G	probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,934 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,031,931 (GRCm39)		probably benign	Het
Gm8104	T	C	14: 42,967,468 (GRCm39)	S179P	probably damaging	Het
Gm8104	C	T	14: 42,967,466 (GRCm39)	T178I	probably benign	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 79,149,604 (GRCm39)		probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Ifi211	G	A	1: 173,733,759 (GRCm39)	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 67,875,934 (GRCm39)		probably benign	Het
Igkv9-129	G	A	6: 67,817,018 (GRCm39)	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,314,013 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,198,814 (GRCm39)		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,285,805 (GRCm39)		probably benign	Het
Kng2	G	A	16: 22,819,302 (GRCm39)	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,192,346 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,280,102 (GRCm39)		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	GAG	GAGAAG	X: 94,984,429 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,462 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,465 (GRCm39)		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,270,499 (GRCm39)		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,872,826 (GRCm39)		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Mn1	GCA	GCACCA	5: 111,567,564 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,067,583 (GRCm39)		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,549,752 (GRCm39)		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,549,760 (GRCm39)		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,150,559 (GRCm39)		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 35,073,046 (GRCm39)		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,716,458 (GRCm39)		probably benign	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,324,557 (GRCm39)		probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,119,228 (GRCm39)		probably benign	Homo
Or2ak5	T	G	11: 58,611,197 (GRCm39)	I226L	probably benign	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Homo
Or51v8	G	GAAC	7: 103,320,174 (GRCm39)		probably null	Homo
Or51v8	CAAA	CAAAAAA	7: 103,320,167 (GRCm39)		probably benign	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Osmr	CTC	CTCTTC	15: 6,867,184 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTCCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,006,823 (GRCm39)		probably benign	Homo
Phldb3	GACCC	G	7: 24,328,403 (GRCm39)		probably null	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Polr1g	GGATG	GG	7: 19,091,169 (GRCm39)		probably benign	Homo
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,571,039 (GRCm39)		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,370,609 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Homo
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,891,419 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,599,199 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,384,485 (GRCm39)		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,646,819 (GRCm39)		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,373,064 (GRCm39)		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,373,065 (GRCm39)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Six3	GGC	GGCCGC	17: 85,928,791 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,570 (GRCm39)		probably benign	Het
Spata31h1	G	GTCATTA	10: 82,126,830 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Supt20	CA	CAGCAGAA	3: 54,635,094 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,085 (GRCm39)		probably benign	Het
Tob1	GCA	GCAACA	11: 94,105,281 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,295 (GRCm39)		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,877,590 (GRCm39)		probably benign	Homo
Triobp	TCG	TCGGCG	15: 78,877,587 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,039 (GRCm39)		probably benign	Het
Tsen2	GAG	GAGAAG	6: 115,537,029 (GRCm39)		probably benign	Het
Ttf2	TC	TCCGC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,223,540 (GRCm39)		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,197,784 (GRCm39)		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,509,685 (GRCm39)		probably benign	Homo
Vars1	TGG	TGGAGTCCTGGGGGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vars1	G	GAGTCCTGGGTGC	17: 35,234,967 (GRCm39)		probably benign	Het
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,561,039 (GRCm39)		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,930,607 (GRCm39)		probably null	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,749,392 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	Het
Zfp986	G	T	4: 145,625,928 (GRCm39)	R196I	probably benign	Het
Zfp992	G	T	4: 146,550,464 (GRCm39)	E62*	probably null	Het

Other mutations in Syne1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Syne1	APN	10	5,342,167 (GRCm38)	synonymous	probably benign
IGL00725:Syne1	APN	10	5,344,922 (GRCm38)	missense	possibly damaging	0.48
IGL00799:Syne1	APN	10	5,347,878 (GRCm38)	missense	probably benign	0.00
IGL01087:Syne1	APN	10	5,375,708 (GRCm39)	missense	probably damaging	1.00
IGL01123:Syne1	APN	10	5,294,921 (GRCm39)	nonsense	probably null
IGL01147:Syne1	APN	10	5,002,691 (GRCm39)	nonsense	probably null
IGL01150:Syne1	APN	10	5,393,154 (GRCm39)	missense	probably damaging	1.00
IGL01154:Syne1	APN	10	5,310,848 (GRCm39)	missense	probably damaging	1.00
IGL01727:Syne1	APN	10	4,997,842 (GRCm39)	missense	probably damaging	0.99
IGL01761:Syne1	APN	10	5,355,456 (GRCm39)	missense	probably damaging	1.00
IGL01793:Syne1	APN	10	5,302,191 (GRCm39)	missense	possibly damaging	0.67
IGL01961:Syne1	APN	10	4,993,723 (GRCm39)	missense	possibly damaging	0.94
IGL01975:Syne1	APN	10	5,018,908 (GRCm39)	intron	probably benign
IGL02152:Syne1	APN	10	5,374,382 (GRCm39)	missense	probably damaging	1.00
IGL02423:Syne1	APN	10	5,318,295 (GRCm39)	missense	probably benign	0.00
IGL02457:Syne1	APN	10	5,292,167 (GRCm39)	missense	probably damaging	1.00
IGL02543:Syne1	APN	10	4,993,618 (GRCm39)	missense	probably damaging	0.97
IGL02836:Syne1	APN	10	5,359,875 (GRCm39)	splice site	probably benign
IGL03141:Syne1	APN	10	5,374,261 (GRCm39)	missense	probably damaging	1.00
IGL02799:Syne1	UTSW	10	5,309,059 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Syne1	UTSW	10	5,283,023 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Syne1	UTSW	10	5,308,390 (GRCm39)	missense	possibly damaging	0.87
R0004:Syne1	UTSW	10	5,393,132 (GRCm39)	splice site	probably benign
R0110:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0165:Syne1	UTSW	10	4,983,096 (GRCm39)	missense	probably benign	0.28
R0194:Syne1	UTSW	10	5,374,311 (GRCm39)	missense	probably benign
R0311:Syne1	UTSW	10	5,298,943 (GRCm39)	missense	possibly damaging	0.92
R0328:Syne1	UTSW	10	5,298,945 (GRCm39)	missense	possibly damaging	0.62
R0379:Syne1	UTSW	10	5,491,989 (GRCm39)	missense	probably damaging	1.00
R0387:Syne1	UTSW	10	5,301,029 (GRCm39)	missense	probably benign
R0452:Syne1	UTSW	10	5,355,435 (GRCm39)	missense	probably damaging	0.98
R0456:Syne1	UTSW	10	5,292,252 (GRCm39)	missense	probably benign	0.04
R0457:Syne1	UTSW	10	4,972,041 (GRCm39)	missense	probably damaging	1.00
R0469:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0510:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0533:Syne1	UTSW	10	5,308,438 (GRCm39)	missense	probably benign	0.00
R0617:Syne1	UTSW	10	5,300,933 (GRCm39)	missense	probably damaging	1.00
R0690:Syne1	UTSW	10	4,983,138 (GRCm39)	splice site	probably benign
R0964:Syne1	UTSW	10	4,993,652 (GRCm39)	missense	possibly damaging	0.95
R1133:Syne1	UTSW	10	5,299,044 (GRCm39)	missense	possibly damaging	0.77
R1327:Syne1	UTSW	10	4,998,925 (GRCm39)	splice site	probably benign
R1339:Syne1	UTSW	10	5,317,571 (GRCm39)	missense	probably damaging	1.00
R1531:Syne1	UTSW	10	5,297,875 (GRCm39)	nonsense	probably null
R1558:Syne1	UTSW	10	5,299,280 (GRCm39)	nonsense	probably null
R1633:Syne1	UTSW	10	5,299,388 (GRCm39)	missense	probably damaging	1.00
R1642:Syne1	UTSW	10	5,298,694 (GRCm39)	missense	possibly damaging	0.94
R1658:Syne1	UTSW	10	5,317,616 (GRCm39)	missense	probably benign	0.03
R1753:Syne1	UTSW	10	5,317,621 (GRCm39)	missense	probably benign	0.28
R1759:Syne1	UTSW	10	5,299,369 (GRCm39)	missense	probably damaging	1.00
R1792:Syne1	UTSW	10	4,990,975 (GRCm39)	missense	probably damaging	1.00
R2076:Syne1	UTSW	10	4,990,897 (GRCm39)	missense	probably damaging	0.99
R2079:Syne1	UTSW	10	5,311,502 (GRCm39)	missense	probably benign	0.01
R2102:Syne1	UTSW	10	5,006,514 (GRCm39)	missense	probably damaging	1.00
R2233:Syne1	UTSW	10	4,991,484 (GRCm39)	missense	probably benign	0.01
R2305:Syne1	UTSW	10	4,997,573 (GRCm39)	missense	probably damaging	0.97
R3435:Syne1	UTSW	10	5,298,565 (GRCm39)	missense	probably damaging	1.00
R3749:Syne1	UTSW	10	5,002,267 (GRCm39)	splice site	probably benign
R3876:Syne1	UTSW	10	5,002,345 (GRCm39)	missense	possibly damaging	0.57
R3895:Syne1	UTSW	10	5,355,456 (GRCm39)	missense	probably damaging	0.98
R3974:Syne1	UTSW	10	4,993,630 (GRCm39)	missense	probably benign	0.06
R4042:Syne1	UTSW	10	4,991,584 (GRCm39)	missense	probably benign	0.21
R4120:Syne1	UTSW	10	5,359,798 (GRCm39)	missense	probably damaging	1.00
R4201:Syne1	UTSW	10	5,297,870 (GRCm39)	missense	probably benign
R4364:Syne1	UTSW	10	5,303,987 (GRCm39)	missense	probably damaging	0.96
R4498:Syne1	UTSW	10	4,981,768 (GRCm39)	missense	probably benign	0.00
R4767:Syne1	UTSW	10	5,294,866 (GRCm39)	nonsense	probably null
R4804:Syne1	UTSW	10	5,299,310 (GRCm39)	missense	possibly damaging	0.95
R4917:Syne1	UTSW	10	5,007,909 (GRCm39)	missense	probably damaging	1.00
R4930:Syne1	UTSW	10	5,002,777 (GRCm39)	missense	probably damaging	0.99
R5081:Syne1	UTSW	10	4,997,767 (GRCm39)	missense	probably benign	0.04
R5089:Syne1	UTSW	10	5,355,444 (GRCm39)	nonsense	probably null
R5174:Syne1	UTSW	10	4,991,490 (GRCm39)	missense	probably damaging	0.99
R5205:Syne1	UTSW	10	5,002,295 (GRCm39)	missense	probably benign	0.05
R5303:Syne1	UTSW	10	5,370,464 (GRCm39)	missense	probably benign	0.00
R5384:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5385:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5392:Syne1	UTSW	10	5,298,661 (GRCm39)	missense	probably damaging	1.00
R5442:Syne1	UTSW	10	5,293,473 (GRCm39)	missense	probably benign	0.09
R5750:Syne1	UTSW	10	5,289,209 (GRCm39)	missense	probably benign	0.01
R5935:Syne1	UTSW	10	5,310,706 (GRCm39)	splice site	probably null
R6015:Syne1	UTSW	10	5,296,819 (GRCm39)	critical splice donor site	probably null
R6023:Syne1	UTSW	10	5,393,223 (GRCm39)	missense	probably benign	0.09
R6049:Syne1	UTSW	10	5,297,926 (GRCm39)	missense	possibly damaging	0.79
R6084:Syne1	UTSW	10	5,298,994 (GRCm39)	missense	probably damaging	1.00
R6145:Syne1	UTSW	10	5,002,750 (GRCm39)	missense	probably damaging	1.00
R6164:Syne1	UTSW	10	5,011,429 (GRCm39)	missense	probably damaging	1.00
R6165:Syne1	UTSW	10	5,375,678 (GRCm39)	missense	probably damaging	1.00
R6198:Syne1	UTSW	10	5,252,269 (GRCm39)	missense	probably damaging	0.99
R6217:Syne1	UTSW	10	5,243,761 (GRCm39)	missense	probably benign	0.00
R6247:Syne1	UTSW	10	5,299,071 (GRCm39)	missense	probably damaging	0.98
R6271:Syne1	UTSW	10	5,184,652 (GRCm39)	missense	probably damaging	1.00
R6338:Syne1	UTSW	10	5,205,475 (GRCm39)	missense	probably benign	0.00
R6344:Syne1	UTSW	10	4,972,212 (GRCm39)	missense	probably benign	0.08
R6434:Syne1	UTSW	10	5,268,422 (GRCm39)	missense	probably benign	0.01
R6476:Syne1	UTSW	10	5,104,531 (GRCm39)	missense	possibly damaging	0.88
R6479:Syne1	UTSW	10	5,406,826 (GRCm39)	missense	probably damaging	1.00
R6479:Syne1	UTSW	10	5,181,679 (GRCm39)	nonsense	probably null
R6546:Syne1	UTSW	10	5,168,645 (GRCm39)	nonsense	probably null
R6578:Syne1	UTSW	10	5,355,454 (GRCm39)	nonsense	probably null
R6611:Syne1	UTSW	10	4,995,273 (GRCm39)	missense	probably benign	0.01
R6615:Syne1	UTSW	10	5,251,340 (GRCm39)	missense	probably damaging	0.98
R6632:Syne1	UTSW	10	5,165,667 (GRCm39)	critical splice donor site	probably null
R6662:Syne1	UTSW	10	5,078,416 (GRCm39)	missense	probably damaging	1.00
R6677:Syne1	UTSW	10	4,990,942 (GRCm39)	missense	possibly damaging	0.82
R6764:Syne1	UTSW	10	5,179,011 (GRCm39)	nonsense	probably null
R6765:Syne1	UTSW	10	5,093,285 (GRCm39)	splice site	probably null
R6778:Syne1	UTSW	10	5,052,406 (GRCm39)	missense	probably damaging	0.97
R6851:Syne1	UTSW	10	5,212,703 (GRCm39)	nonsense	probably null
R6878:Syne1	UTSW	10	5,370,388 (GRCm39)	missense	possibly damaging	0.78
R6883:Syne1	UTSW	10	5,181,704 (GRCm39)	nonsense	probably null
R6910:Syne1	UTSW	10	4,998,887 (GRCm39)	missense	probably benign	0.01
R6916:Syne1	UTSW	10	5,177,912 (GRCm39)	missense	probably benign	0.00
R6925:Syne1	UTSW	10	5,076,682 (GRCm39)	missense	probably benign	0.00
R6943:Syne1	UTSW	10	5,033,940 (GRCm39)	missense	probably benign
R6947:Syne1	UTSW	10	5,125,789 (GRCm39)	missense	probably damaging	1.00
R6965:Syne1	UTSW	10	5,179,120 (GRCm39)	missense	possibly damaging	0.66
R6968:Syne1	UTSW	10	5,067,041 (GRCm39)	missense	probably benign	0.09
R7043:Syne1	UTSW	10	5,022,193 (GRCm39)	missense	possibly damaging	0.77
R7059:Syne1	UTSW	10	5,296,859 (GRCm39)	missense	probably damaging	1.00
R7067:Syne1	UTSW	10	5,184,586 (GRCm39)	missense	probably damaging	1.00
R7087:Syne1	UTSW	10	5,492,024 (GRCm39)	start gained	probably benign
R7099:Syne1	UTSW	10	5,073,744 (GRCm39)	missense	probably benign	0.43
R7107:Syne1	UTSW	10	5,082,078 (GRCm39)	missense	probably damaging	1.00
R7120:Syne1	UTSW	10	5,243,971 (GRCm39)	missense	probably benign
R7127:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7128:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7131:Syne1	UTSW	10	5,178,221 (GRCm39)	missense	probably damaging	1.00
R7132:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7133:Syne1	UTSW	10	5,181,592 (GRCm39)	missense	probably damaging	1.00
R7135:Syne1	UTSW	10	5,183,409 (GRCm39)	missense	probably benign	0.01
R7147:Syne1	UTSW	10	5,199,340 (GRCm39)	missense	probably damaging	1.00
R7158:Syne1	UTSW	10	5,007,931 (GRCm39)	missense	probably damaging	1.00
R7189:Syne1	UTSW	10	5,374,295 (GRCm39)	missense	probably benign	0.03
R7193:Syne1	UTSW	10	5,183,406 (GRCm39)	missense	probably damaging	1.00
R7194:Syne1	UTSW	10	5,060,859 (GRCm39)	missense	probably damaging	1.00
R7233:Syne1	UTSW	10	5,252,160 (GRCm39)	missense	probably damaging	1.00
R7255:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7267:Syne1	UTSW	10	5,178,218 (GRCm39)	missense	probably damaging	1.00
R7294:Syne1	UTSW	10	5,047,483 (GRCm39)	critical splice donor site	probably null
R7303:Syne1	UTSW	10	5,206,805 (GRCm39)	missense	probably benign	0.04
R7313:Syne1	UTSW	10	4,997,635 (GRCm39)	missense	probably damaging	1.00
R7330:Syne1	UTSW	10	5,078,434 (GRCm39)	missense	probably benign	0.00
R7334:Syne1	UTSW	10	5,007,886 (GRCm39)	missense	probably damaging	1.00
R7363:Syne1	UTSW	10	5,090,970 (GRCm39)	missense	possibly damaging	0.45
R7400:Syne1	UTSW	10	5,168,580 (GRCm39)	missense	probably benign	0.12
R7425:Syne1	UTSW	10	5,375,760 (GRCm39)	missense	probably damaging	1.00
R7427:Syne1	UTSW	10	5,223,718 (GRCm39)	missense	probably damaging	0.98
R7446:Syne1	UTSW	10	5,172,266 (GRCm39)	missense	probably benign	0.00
R7462:Syne1	UTSW	10	5,002,793 (GRCm39)	missense	possibly damaging	0.87
R7502:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7525:Syne1	UTSW	10	5,135,559 (GRCm39)	critical splice acceptor site	probably null
R7529:Syne1	UTSW	10	5,374,382 (GRCm39)	missense	probably damaging	1.00
R7577:Syne1	UTSW	10	5,074,820 (GRCm39)	missense	probably damaging	1.00
R7579:Syne1	UTSW	10	5,299,324 (GRCm39)	missense	probably damaging	1.00
R7594:Syne1	UTSW	10	5,165,190 (GRCm39)	critical splice donor site	probably null
R7646:Syne1	UTSW	10	5,122,949 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,293,416 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,155,074 (GRCm39)	missense	probably benign	0.38
R7669:Syne1	UTSW	10	5,011,531 (GRCm39)	missense	probably damaging	1.00
R7672:Syne1	UTSW	10	5,168,527 (GRCm39)	missense	probably benign	0.02
R7682:Syne1	UTSW	10	5,112,461 (GRCm39)	missense	probably benign
R7702:Syne1	UTSW	10	5,195,835 (GRCm39)	missense	probably damaging	1.00
R7767:Syne1	UTSW	10	5,283,632 (GRCm39)	missense	possibly damaging	0.49
R7767:Syne1	UTSW	10	5,283,560 (GRCm39)	missense	possibly damaging	0.60
R7829:Syne1	UTSW	10	5,292,293 (GRCm39)	missense	probably damaging	0.96
R7840:Syne1	UTSW	10	5,082,078 (GRCm39)	missense	probably damaging	1.00
R7859:Syne1	UTSW	10	5,107,683 (GRCm39)	missense	possibly damaging	0.80
R7899:Syne1	UTSW	10	5,177,956 (GRCm39)	nonsense	probably null
R7918:Syne1	UTSW	10	5,309,078 (GRCm39)	missense	possibly damaging	0.50
R7923:Syne1	UTSW	10	5,214,738 (GRCm39)	missense	probably damaging	1.00
R7946:Syne1	UTSW	10	5,200,919 (GRCm39)	missense	possibly damaging	0.92
R7966:Syne1	UTSW	10	5,066,965 (GRCm39)	critical splice donor site	probably null
R7975:Syne1	UTSW	10	4,981,786 (GRCm39)	missense	probably benign	0.00
R7981:Syne1	UTSW	10	5,179,248 (GRCm39)	missense	probably benign	0.04
R8053:Syne1	UTSW	10	5,002,658 (GRCm39)	nonsense	probably null
R8054:Syne1	UTSW	10	5,220,970 (GRCm39)	missense	probably benign	0.22
R8062:Syne1	UTSW	10	5,135,394 (GRCm39)	critical splice donor site	probably null
R8085:Syne1	UTSW	10	5,178,021 (GRCm39)	missense	possibly damaging	0.78
R8087:Syne1	UTSW	10	5,283,034 (GRCm39)	missense	probably benign
R8094:Syne1	UTSW	10	5,067,031 (GRCm39)	missense	probably damaging	0.98
R8310:Syne1	UTSW	10	5,297,829 (GRCm39)	missense	probably benign
R8325:Syne1	UTSW	10	5,096,257 (GRCm39)	missense	probably benign	0.15
R8342:Syne1	UTSW	10	5,058,622 (GRCm39)	missense	probably benign	0.18
R8353:Syne1	UTSW	10	5,300,983 (GRCm39)	missense	probably damaging	1.00
R8376:Syne1	UTSW	10	4,993,615 (GRCm39)	missense	probably benign	0.09
R8398:Syne1	UTSW	10	5,074,923 (GRCm39)	missense	probably damaging	1.00
R8434:Syne1	UTSW	10	5,073,057 (GRCm39)	missense	probably benign	0.00
R8436:Syne1	UTSW	10	5,178,659 (GRCm39)	missense	probably benign	0.26
R8459:Syne1	UTSW	10	5,374,277 (GRCm39)	nonsense	probably null
R8461:Syne1	UTSW	10	5,011,463 (GRCm39)	missense	probably benign	0.34
R8496:Syne1	UTSW	10	5,268,441 (GRCm39)	missense	probably damaging	0.99
R8496:Syne1	UTSW	10	5,178,896 (GRCm39)	missense	probably damaging	0.99
R8693:Syne1	UTSW	10	5,090,928 (GRCm39)	missense	possibly damaging	0.60
R8698:Syne1	UTSW	10	5,179,229 (GRCm39)	missense	probably damaging	1.00
R8701:Syne1	UTSW	10	5,155,026 (GRCm39)	nonsense	probably null
R8713:Syne1	UTSW	10	5,266,040 (GRCm39)	missense	probably damaging	1.00
R8724:Syne1	UTSW	10	5,033,861 (GRCm39)	missense	possibly damaging	0.77
R8729:Syne1	UTSW	10	5,179,275 (GRCm39)	missense	probably benign	0.00
R8742:Syne1	UTSW	10	5,058,661 (GRCm39)	missense	probably benign	0.09
R8757:Syne1	UTSW	10	5,144,618 (GRCm39)	missense	probably damaging	1.00
R8776:Syne1	UTSW	10	5,181,783 (GRCm39)	missense	possibly damaging	0.81
R8776-TAIL:Syne1	UTSW	10	5,181,783 (GRCm39)	missense	possibly damaging	0.81
R8778:Syne1	UTSW	10	5,309,066 (GRCm39)	missense	probably benign	0.00
R8801:Syne1	UTSW	10	5,308,335 (GRCm39)	missense	probably damaging	1.00
R8803:Syne1	UTSW	10	5,311,535 (GRCm39)	missense	probably damaging	1.00
R8808:Syne1	UTSW	10	5,309,074 (GRCm39)	missense	probably damaging	1.00
R8829:Syne1	UTSW	10	5,058,685 (GRCm39)	missense	probably benign
R8843:Syne1	UTSW	10	5,143,040 (GRCm39)	missense	possibly damaging	0.88
R8843:Syne1	UTSW	10	5,280,204 (GRCm39)	missense	probably benign	0.01
R8854:Syne1	UTSW	10	5,078,503 (GRCm39)	missense	probably benign	0.00
R8863:Syne1	UTSW	10	5,049,527 (GRCm39)	missense	probably damaging	1.00
R8864:Syne1	UTSW	10	5,370,473 (GRCm39)	missense	probably benign	0.01
R8881:Syne1	UTSW	10	5,223,639 (GRCm39)	missense	probably damaging	1.00
R8884:Syne1	UTSW	10	5,181,822 (GRCm39)	missense	possibly damaging	0.93
R8893:Syne1	UTSW	10	5,299,020 (GRCm39)	nonsense	probably null
R8958:Syne1	UTSW	10	5,181,768 (GRCm39)	missense	probably benign
R8964:Syne1	UTSW	10	5,060,872 (GRCm39)	missense
R8975:Syne1	UTSW	10	5,161,945 (GRCm39)	missense	probably benign	0.04
R8987:Syne1	UTSW	10	5,177,579 (GRCm39)	missense	possibly damaging	0.92
R8992:Syne1	UTSW	10	5,135,508 (GRCm39)	missense	probably benign	0.01
R9005:Syne1	UTSW	10	5,155,406 (GRCm39)	missense	probably benign
R9084:Syne1	UTSW	10	5,289,240 (GRCm39)	missense	probably benign	0.01
R9117:Syne1	UTSW	10	5,053,667 (GRCm39)	missense	probably damaging	0.96
R9128:Syne1	UTSW	10	5,058,556 (GRCm39)	missense	probably benign	0.38
R9181:Syne1	UTSW	10	5,063,994 (GRCm39)	missense	probably damaging	0.99
R9189:Syne1	UTSW	10	5,172,289 (GRCm39)	missense	probably benign	0.00
R9189:Syne1	UTSW	10	5,123,008 (GRCm39)	missense	probably damaging	1.00
R9205:Syne1	UTSW	10	5,152,013 (GRCm39)	nonsense	probably null
R9217:Syne1	UTSW	10	5,299,324 (GRCm39)	missense	probably damaging	1.00
R9246:Syne1	UTSW	10	5,255,706 (GRCm39)	missense	probably benign	0.00
R9264:Syne1	UTSW	10	5,212,793 (GRCm39)	missense	probably damaging	1.00
R9273:Syne1	UTSW	10	4,990,901 (GRCm39)	missense	probably benign	0.16
R9315:Syne1	UTSW	10	5,283,553 (GRCm39)	missense	possibly damaging	0.79
R9331:Syne1	UTSW	10	5,073,666 (GRCm39)	missense	probably benign	0.45
R9355:Syne1	UTSW	10	5,318,255 (GRCm39)	missense	probably damaging	1.00
R9378:Syne1	UTSW	10	5,200,954 (GRCm39)	missense	probably damaging	0.96
R9389:Syne1	UTSW	10	5,179,193 (GRCm39)	missense	possibly damaging	0.65
R9395:Syne1	UTSW	10	5,261,728 (GRCm39)	missense	probably damaging	1.00
R9405:Syne1	UTSW	10	5,152,030 (GRCm39)	missense	probably damaging	1.00
R9417:Syne1	UTSW	10	5,082,021 (GRCm39)	missense	probably benign
R9419:Syne1	UTSW	10	5,155,071 (GRCm39)	missense	probably benign	0.01
R9473:Syne1	UTSW	10	5,198,258 (GRCm39)	missense	probably benign	0.00
R9484:Syne1	UTSW	10	5,170,359 (GRCm39)	missense	probably damaging	1.00
R9505:Syne1	UTSW	10	4,980,394 (GRCm39)	missense	probably benign	0.00
R9509:Syne1	UTSW	10	5,298,927 (GRCm39)	critical splice donor site	probably null
R9546:Syne1	UTSW	10	5,193,123 (GRCm39)	missense	probably damaging	1.00
R9567:Syne1	UTSW	10	5,196,386 (GRCm39)	missense	possibly damaging	0.54
R9601:Syne1	UTSW	10	5,209,270 (GRCm39)	missense	probably benign	0.23
R9619:Syne1	UTSW	10	5,090,909 (GRCm39)	missense	probably benign	0.03
R9621:Syne1	UTSW	10	5,273,887 (GRCm39)	missense	probably benign	0.01
R9623:Syne1	UTSW	10	5,152,009 (GRCm39)	missense	probably damaging	1.00
R9646:Syne1	UTSW	10	5,179,187 (GRCm39)	missense	possibly damaging	0.95
R9666:Syne1	UTSW	10	4,984,937 (GRCm39)	missense	probably damaging	1.00
R9677:Syne1	UTSW	10	5,215,125 (GRCm39)	missense	probably damaging	1.00
R9695:Syne1	UTSW	10	5,268,461 (GRCm39)	missense	probably benign	0.03
R9696:Syne1	UTSW	10	5,297,847 (GRCm39)	missense	probably benign	0.00
R9719:Syne1	UTSW	10	5,276,601 (GRCm39)	missense	possibly damaging	0.47
R9744:Syne1	UTSW	10	5,274,184 (GRCm39)	missense	probably benign	0.01
R9761:Syne1	UTSW	10	5,318,190 (GRCm39)	critical splice donor site	probably null
R9763:Syne1	UTSW	10	5,007,858 (GRCm39)	missense	probably benign	0.31
RF010:Syne1	UTSW	10	5,196,386 (GRCm39)	missense	possibly damaging	0.89
RF015:Syne1	UTSW	10	5,252,248 (GRCm39)	missense	probably benign	0.01
RF023:Syne1	UTSW	10	5,205,482 (GRCm39)	missense	probably damaging	1.00
X0017:Syne1	UTSW	10	5,296,917 (GRCm39)	missense	probably damaging	1.00
X0025:Syne1	UTSW	10	5,308,973 (GRCm39)	nonsense	probably null
X0063:Syne1	UTSW	10	5,002,354 (GRCm39)	missense	probably damaging	1.00
Z1176:Syne1	UTSW	10	5,280,251 (GRCm39)	missense	probably benign	0.10
Z1176:Syne1	UTSW	10	5,209,280 (GRCm39)	missense	probably benign
Z1176:Syne1	UTSW	10	5,198,364 (GRCm39)	missense	probably damaging	0.96
Z1177:Syne1	UTSW	10	5,209,349 (GRCm39)	missense	probably damaging	1.00
Z1177:Syne1	UTSW	10	5,093,230 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CGAGTCTGCTTTTGTATTCTGAGAC -3'
(R):5'- TGTCTCCTATCATACACGCAGC -3'

Sequencing Primer
(F):5'- GTATTCTGAGACAGCTCTTGAAAG -3'
(R):5'- TCATACACGCAGCAAATAAAGCAGG -3'

Posted On

2018-04-05