Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Syne1'

569379

Institutional Source

Beutler Lab

Gene Symbol

Syne1

Ensembl Gene

ENSMUSG00000096054

Gene Name

spectrin repeat containing, nuclear envelope 1

Synonyms

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

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5020917-5551482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5057886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 113 (D113N)

Ref Sequence

ENSEMBL: ENSMUSP00000093587 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000095899
AA Change: D113N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093587
Gene: ENSMUSG00000096054
AA Change: D113N

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

probably damaging
Transcript: ENSMUST00000215295
AA Change: D7940N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2990

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	T	3: 153,939,061 (GRCm38)	S9*	probably null	Het
Acot10	C	T	15: 20,665,543 (GRCm38)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990 (GRCm38)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252 (GRCm38)	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711 (GRCm38)	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450 (GRCm38)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460 (GRCm38)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177 (GRCm38)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734 (GRCm38)	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546 (GRCm38)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600 (GRCm38)	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656 (GRCm38)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875 (GRCm38)	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246 (GRCm38)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006 (GRCm38)	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943 (GRCm38)	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224 (GRCm38)		probably null	Het
Epb41l5	T	G	1: 119,623,949 (GRCm38)	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850 (GRCm38)	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038 (GRCm38)	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718 (GRCm38)	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496 (GRCm38)		probably null	Het
Gm12394	G	A	4: 42,793,856 (GRCm38)	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907 (GRCm38)	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959 (GRCm38)	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794 (GRCm38)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135 (GRCm38)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124 (GRCm38)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512 (GRCm38)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442 (GRCm38)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718 (GRCm38)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370 (GRCm38)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638 (GRCm38)	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798 (GRCm38)	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366 (GRCm38)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280 (GRCm38)	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268 (GRCm38)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037 (GRCm38)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971 (GRCm38)	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579 (GRCm38)	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997 (GRCm38)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906 (GRCm38)	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755 (GRCm38)	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917 (GRCm38)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225 (GRCm38)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503 (GRCm38)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681 (GRCm38)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262 (GRCm38)	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131 (GRCm38)	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705 (GRCm38)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982 (GRCm38)	T364A	probably benign	Het
Shcbp1	A	C	8: 4,754,310 (GRCm38)	F200C	probably damaging	Het
Shcbp1	A	T	8: 4,741,876 (GRCm38)	M479K	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767 (GRCm38)	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527 (GRCm38)	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825 (GRCm38)		probably null	Het
St18	G	A	1: 6,802,559 (GRCm38)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648 (GRCm38)	I46T	probably damaging	Het
Tg	G	A	15: 66,725,272 (GRCm38)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275 (GRCm38)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008 (GRCm38)	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649 (GRCm38)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089 (GRCm38)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817 (GRCm38)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129 (GRCm38)	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561 (GRCm38)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681 (GRCm38)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009 (GRCm38)		probably null	Het
Vmn1r58	T	A	7: 5,411,067 (GRCm38)	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760 (GRCm38)	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794 (GRCm38)	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080 (GRCm38)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754 (GRCm38)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019 (GRCm38)	C371S	probably damaging	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	5,425,708 (GRCm38)	missense	probably damaging	1.00
IGL01123:Syne1	APN	10	5,344,921 (GRCm38)	nonsense	probably null
IGL01147:Syne1	APN	10	5,052,691 (GRCm38)	nonsense	probably null
IGL01150:Syne1	APN	10	5,443,154 (GRCm38)	missense	probably damaging	1.00
IGL01154:Syne1	APN	10	5,360,848 (GRCm38)	missense	probably damaging	1.00
IGL01727:Syne1	APN	10	5,047,842 (GRCm38)	missense	probably damaging	0.99
IGL01761:Syne1	APN	10	5,405,456 (GRCm38)	missense	probably damaging	1.00
IGL01793:Syne1	APN	10	5,352,191 (GRCm38)	missense	possibly damaging	0.67
IGL01961:Syne1	APN	10	5,043,723 (GRCm38)	missense	possibly damaging	0.94
IGL01975:Syne1	APN	10	5,068,908 (GRCm38)	intron	probably benign
IGL02152:Syne1	APN	10	5,424,382 (GRCm38)	missense	probably damaging	1.00
IGL02423:Syne1	APN	10	5,368,295 (GRCm38)	missense	probably benign	0.00
IGL02457:Syne1	APN	10	5,342,167 (GRCm38)	missense	probably damaging	1.00
IGL02543:Syne1	APN	10	5,043,618 (GRCm38)	missense	probably damaging	0.97
IGL02836:Syne1	APN	10	5,409,875 (GRCm38)	splice site	probably benign
IGL03141:Syne1	APN	10	5,424,261 (GRCm38)	missense	probably damaging	1.00
FR4548:Syne1	UTSW	10	5,032,969 (GRCm38)	missense	probably benign	0.09
IGL02799:Syne1	UTSW	10	5,359,059 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Syne1	UTSW	10	5,333,023 (GRCm38)	missense	probably damaging	1.00
PIT4687001:Syne1	UTSW	10	5,358,390 (GRCm38)	missense	possibly damaging	0.87
R0004:Syne1	UTSW	10	5,443,132 (GRCm38)	splice site	probably benign
R0110:Syne1	UTSW	10	5,367,600 (GRCm38)	missense	probably damaging	1.00
R0165:Syne1	UTSW	10	5,033,096 (GRCm38)	missense	probably benign	0.28
R0194:Syne1	UTSW	10	5,424,311 (GRCm38)	missense	probably benign
R0311:Syne1	UTSW	10	5,348,943 (GRCm38)	missense	possibly damaging	0.92
R0328:Syne1	UTSW	10	5,348,945 (GRCm38)	missense	possibly damaging	0.62
R0379:Syne1	UTSW	10	5,541,989 (GRCm38)	missense	probably damaging	1.00
R0387:Syne1	UTSW	10	5,351,029 (GRCm38)	missense	probably benign
R0452:Syne1	UTSW	10	5,405,435 (GRCm38)	missense	probably damaging	0.98
R0456:Syne1	UTSW	10	5,342,252 (GRCm38)	missense	probably benign	0.04
R0457:Syne1	UTSW	10	5,022,041 (GRCm38)	missense	probably damaging	1.00
R0469:Syne1	UTSW	10	5,367,600 (GRCm38)	missense	probably damaging	1.00
R0510:Syne1	UTSW	10	5,367,600 (GRCm38)	missense	probably damaging	1.00
R0533:Syne1	UTSW	10	5,358,438 (GRCm38)	missense	probably benign	0.00
R0617:Syne1	UTSW	10	5,350,933 (GRCm38)	missense	probably damaging	1.00
R0690:Syne1	UTSW	10	5,033,138 (GRCm38)	splice site	probably benign
R0964:Syne1	UTSW	10	5,043,652 (GRCm38)	missense	possibly damaging	0.95
R1133:Syne1	UTSW	10	5,349,044 (GRCm38)	missense	possibly damaging	0.77
R1327:Syne1	UTSW	10	5,048,925 (GRCm38)	splice site	probably benign
R1339:Syne1	UTSW	10	5,367,571 (GRCm38)	missense	probably damaging	1.00
R1531:Syne1	UTSW	10	5,347,875 (GRCm38)	nonsense	probably null
R1558:Syne1	UTSW	10	5,349,280 (GRCm38)	nonsense	probably null
R1633:Syne1	UTSW	10	5,349,388 (GRCm38)	missense	probably damaging	1.00
R1642:Syne1	UTSW	10	5,348,694 (GRCm38)	missense	possibly damaging	0.94
R1658:Syne1	UTSW	10	5,367,616 (GRCm38)	missense	probably benign	0.03
R1753:Syne1	UTSW	10	5,367,621 (GRCm38)	missense	probably benign	0.28
R1759:Syne1	UTSW	10	5,349,369 (GRCm38)	missense	probably damaging	1.00
R1792:Syne1	UTSW	10	5,040,975 (GRCm38)	missense	probably damaging	1.00
R2076:Syne1	UTSW	10	5,040,897 (GRCm38)	missense	probably damaging	0.99
R2079:Syne1	UTSW	10	5,361,502 (GRCm38)	missense	probably benign	0.01
R2102:Syne1	UTSW	10	5,056,514 (GRCm38)	missense	probably damaging	1.00
R2233:Syne1	UTSW	10	5,041,484 (GRCm38)	missense	probably benign	0.01
R2305:Syne1	UTSW	10	5,047,573 (GRCm38)	missense	probably damaging	0.97
R3435:Syne1	UTSW	10	5,348,565 (GRCm38)	missense	probably damaging	1.00
R3749:Syne1	UTSW	10	5,052,267 (GRCm38)	splice site	probably benign
R3876:Syne1	UTSW	10	5,052,345 (GRCm38)	missense	possibly damaging	0.57
R3895:Syne1	UTSW	10	5,405,456 (GRCm38)	missense	probably damaging	0.98
R3974:Syne1	UTSW	10	5,043,630 (GRCm38)	missense	probably benign	0.06
R4042:Syne1	UTSW	10	5,041,584 (GRCm38)	missense	probably benign	0.21
R4120:Syne1	UTSW	10	5,409,798 (GRCm38)	missense	probably damaging	1.00
R4201:Syne1	UTSW	10	5,347,870 (GRCm38)	missense	probably benign
R4364:Syne1	UTSW	10	5,353,987 (GRCm38)	missense	probably damaging	0.96
R4498:Syne1	UTSW	10	5,031,768 (GRCm38)	missense	probably benign	0.00
R4767:Syne1	UTSW	10	5,344,866 (GRCm38)	nonsense	probably null
R4804:Syne1	UTSW	10	5,349,310 (GRCm38)	missense	possibly damaging	0.95
R4917:Syne1	UTSW	10	5,057,909 (GRCm38)	missense	probably damaging	1.00
R4930:Syne1	UTSW	10	5,052,777 (GRCm38)	missense	probably damaging	0.99
R5081:Syne1	UTSW	10	5,047,767 (GRCm38)	missense	probably benign	0.04
R5089:Syne1	UTSW	10	5,405,444 (GRCm38)	nonsense	probably null
R5174:Syne1	UTSW	10	5,041,490 (GRCm38)	missense	probably damaging	0.99
R5205:Syne1	UTSW	10	5,052,295 (GRCm38)	missense	probably benign	0.05
R5303:Syne1	UTSW	10	5,420,464 (GRCm38)	missense	probably benign	0.00
R5384:Syne1	UTSW	10	5,041,494 (GRCm38)	missense	probably benign	0.00
R5385:Syne1	UTSW	10	5,041,494 (GRCm38)	missense	probably benign	0.00
R5392:Syne1	UTSW	10	5,348,661 (GRCm38)	missense	probably damaging	1.00
R5442:Syne1	UTSW	10	5,343,473 (GRCm38)	missense	probably benign	0.09
R5750:Syne1	UTSW	10	5,339,209 (GRCm38)	missense	probably benign	0.01
R5935:Syne1	UTSW	10	5,360,706 (GRCm38)	splice site	probably null
R6015:Syne1	UTSW	10	5,346,819 (GRCm38)	critical splice donor site	probably null
R6023:Syne1	UTSW	10	5,443,223 (GRCm38)	missense	probably benign	0.09
R6049:Syne1	UTSW	10	5,347,926 (GRCm38)	missense	possibly damaging	0.79
R6084:Syne1	UTSW	10	5,348,994 (GRCm38)	missense	probably damaging	1.00
R6145:Syne1	UTSW	10	5,052,750 (GRCm38)	missense	probably damaging	1.00
R6164:Syne1	UTSW	10	5,061,429 (GRCm38)	missense	probably damaging	1.00
R6165:Syne1	UTSW	10	5,425,678 (GRCm38)	missense	probably damaging	1.00
R6198:Syne1	UTSW	10	5,302,269 (GRCm38)	missense	probably damaging	0.99
R6217:Syne1	UTSW	10	5,293,761 (GRCm38)	missense	probably benign	0.00
R6247:Syne1	UTSW	10	5,349,071 (GRCm38)	missense	probably damaging	0.98
R6271:Syne1	UTSW	10	5,234,652 (GRCm38)	missense	probably damaging	1.00
R6338:Syne1	UTSW	10	5,255,475 (GRCm38)	missense	probably benign	0.00
R6344:Syne1	UTSW	10	5,022,212 (GRCm38)	missense	probably benign	0.08
R6434:Syne1	UTSW	10	5,318,422 (GRCm38)	missense	probably benign	0.01
R6476:Syne1	UTSW	10	5,154,531 (GRCm38)	missense	possibly damaging	0.88
R6479:Syne1	UTSW	10	5,456,826 (GRCm38)	missense	probably damaging	1.00
R6479:Syne1	UTSW	10	5,231,679 (GRCm38)	nonsense	probably null
R6546:Syne1	UTSW	10	5,218,645 (GRCm38)	nonsense	probably null
R6578:Syne1	UTSW	10	5,405,454 (GRCm38)	nonsense	probably null
R6611:Syne1	UTSW	10	5,045,273 (GRCm38)	missense	probably benign	0.01
R6615:Syne1	UTSW	10	5,301,340 (GRCm38)	missense	probably damaging	0.98
R6632:Syne1	UTSW	10	5,215,667 (GRCm38)	critical splice donor site	probably null
R6662:Syne1	UTSW	10	5,128,416 (GRCm38)	missense	probably damaging	1.00
R6677:Syne1	UTSW	10	5,040,942 (GRCm38)	missense	possibly damaging	0.82
R6764:Syne1	UTSW	10	5,229,011 (GRCm38)	nonsense	probably null
R6765:Syne1	UTSW	10	5,143,285 (GRCm38)	splice site	probably null
R6778:Syne1	UTSW	10	5,102,406 (GRCm38)	missense	probably damaging	0.97
R6851:Syne1	UTSW	10	5,262,703 (GRCm38)	nonsense	probably null
R6878:Syne1	UTSW	10	5,420,388 (GRCm38)	missense	possibly damaging	0.78
R6883:Syne1	UTSW	10	5,231,704 (GRCm38)	nonsense	probably null
R6910:Syne1	UTSW	10	5,048,887 (GRCm38)	missense	probably benign	0.01
R6916:Syne1	UTSW	10	5,227,912 (GRCm38)	missense	probably benign	0.00
R6925:Syne1	UTSW	10	5,126,682 (GRCm38)	missense	probably benign	0.00
R6943:Syne1	UTSW	10	5,083,940 (GRCm38)	missense	probably benign
R6947:Syne1	UTSW	10	5,175,789 (GRCm38)	missense	probably damaging	1.00
R6965:Syne1	UTSW	10	5,229,120 (GRCm38)	missense	possibly damaging	0.66
R6968:Syne1	UTSW	10	5,117,041 (GRCm38)	missense	probably benign	0.09
R7043:Syne1	UTSW	10	5,072,193 (GRCm38)	missense	possibly damaging	0.77
R7059:Syne1	UTSW	10	5,346,859 (GRCm38)	missense	probably damaging	1.00
R7067:Syne1	UTSW	10	5,234,586 (GRCm38)	missense	probably damaging	1.00
R7087:Syne1	UTSW	10	5,542,024 (GRCm38)	start gained	probably benign
R7099:Syne1	UTSW	10	5,123,744 (GRCm38)	missense	probably benign	0.43
R7107:Syne1	UTSW	10	5,132,078 (GRCm38)	missense	probably damaging	1.00
R7120:Syne1	UTSW	10	5,293,971 (GRCm38)	missense	probably benign
R7127:Syne1	UTSW	10	5,243,180 (GRCm38)	missense	probably damaging	1.00
R7128:Syne1	UTSW	10	5,243,180 (GRCm38)	missense	probably damaging	1.00
R7131:Syne1	UTSW	10	5,228,221 (GRCm38)	missense	probably damaging	1.00
R7132:Syne1	UTSW	10	5,243,180 (GRCm38)	missense	probably damaging	1.00
R7133:Syne1	UTSW	10	5,231,592 (GRCm38)	missense	probably damaging	1.00
R7135:Syne1	UTSW	10	5,233,409 (GRCm38)	missense	probably benign	0.01
R7147:Syne1	UTSW	10	5,249,340 (GRCm38)	missense	probably damaging	1.00
R7158:Syne1	UTSW	10	5,057,931 (GRCm38)	missense	probably damaging	1.00
R7189:Syne1	UTSW	10	5,424,295 (GRCm38)	missense	probably benign	0.03
R7193:Syne1	UTSW	10	5,233,406 (GRCm38)	missense	probably damaging	1.00
R7194:Syne1	UTSW	10	5,110,859 (GRCm38)	missense	probably damaging	1.00
R7233:Syne1	UTSW	10	5,302,160 (GRCm38)	missense	probably damaging	1.00
R7255:Syne1	UTSW	10	5,333,446 (GRCm38)	missense	probably damaging	0.98
R7267:Syne1	UTSW	10	5,228,218 (GRCm38)	missense	probably damaging	1.00
R7294:Syne1	UTSW	10	5,097,483 (GRCm38)	critical splice donor site	probably null
R7303:Syne1	UTSW	10	5,256,805 (GRCm38)	missense	probably benign	0.04
R7313:Syne1	UTSW	10	5,047,635 (GRCm38)	missense	probably damaging	1.00
R7330:Syne1	UTSW	10	5,128,434 (GRCm38)	missense	probably benign	0.00
R7363:Syne1	UTSW	10	5,140,970 (GRCm38)	missense	possibly damaging	0.45
R7400:Syne1	UTSW	10	5,218,580 (GRCm38)	missense	probably benign	0.12
R7425:Syne1	UTSW	10	5,425,760 (GRCm38)	missense	probably damaging	1.00
R7427:Syne1	UTSW	10	5,273,718 (GRCm38)	missense	probably damaging	0.98
R7446:Syne1	UTSW	10	5,222,266 (GRCm38)	missense	probably benign	0.00
R7462:Syne1	UTSW	10	5,052,793 (GRCm38)	missense	possibly damaging	0.87
R7502:Syne1	UTSW	10	5,333,446 (GRCm38)	missense	probably damaging	0.98
R7525:Syne1	UTSW	10	5,185,559 (GRCm38)	critical splice acceptor site	probably null
R7529:Syne1	UTSW	10	5,424,382 (GRCm38)	missense	probably damaging	1.00
R7577:Syne1	UTSW	10	5,124,820 (GRCm38)	missense	probably damaging	1.00
R7579:Syne1	UTSW	10	5,349,324 (GRCm38)	missense	probably damaging	1.00
R7594:Syne1	UTSW	10	5,215,190 (GRCm38)	critical splice donor site	probably null
R7646:Syne1	UTSW	10	5,172,949 (GRCm38)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,343,416 (GRCm38)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,205,074 (GRCm38)	missense	probably benign	0.38
R7669:Syne1	UTSW	10	5,061,531 (GRCm38)	missense	probably damaging	1.00
R7672:Syne1	UTSW	10	5,218,527 (GRCm38)	missense	probably benign	0.02
R7682:Syne1	UTSW	10	5,162,461 (GRCm38)	missense	probably benign
R7702:Syne1	UTSW	10	5,245,835 (GRCm38)	missense	probably damaging	1.00
R7767:Syne1	UTSW	10	5,333,632 (GRCm38)	missense	possibly damaging	0.49
R7767:Syne1	UTSW	10	5,333,560 (GRCm38)	missense	possibly damaging	0.60
R7829:Syne1	UTSW	10	5,342,293 (GRCm38)	missense	probably damaging	0.96
R7840:Syne1	UTSW	10	5,132,078 (GRCm38)	missense	probably damaging	1.00
R7859:Syne1	UTSW	10	5,157,683 (GRCm38)	missense	possibly damaging	0.80
R7899:Syne1	UTSW	10	5,227,956 (GRCm38)	nonsense	probably null
R7918:Syne1	UTSW	10	5,359,078 (GRCm38)	missense	possibly damaging	0.50
R7923:Syne1	UTSW	10	5,264,738 (GRCm38)	missense	probably damaging	1.00
R7946:Syne1	UTSW	10	5,250,919 (GRCm38)	missense	possibly damaging	0.92
R7966:Syne1	UTSW	10	5,116,965 (GRCm38)	critical splice donor site	probably null
R7975:Syne1	UTSW	10	5,031,786 (GRCm38)	missense	probably benign	0.00
R7981:Syne1	UTSW	10	5,229,248 (GRCm38)	missense	probably benign	0.04
R8053:Syne1	UTSW	10	5,052,658 (GRCm38)	nonsense	probably null
R8054:Syne1	UTSW	10	5,270,970 (GRCm38)	missense	probably benign	0.22
R8062:Syne1	UTSW	10	5,185,394 (GRCm38)	critical splice donor site	probably null
R8085:Syne1	UTSW	10	5,228,021 (GRCm38)	missense	possibly damaging	0.78
R8087:Syne1	UTSW	10	5,333,034 (GRCm38)	missense	probably benign
R8094:Syne1	UTSW	10	5,117,031 (GRCm38)	missense	probably damaging	0.98
R8310:Syne1	UTSW	10	5,347,829 (GRCm38)	missense	probably benign
R8325:Syne1	UTSW	10	5,146,257 (GRCm38)	missense	probably benign	0.15
R8342:Syne1	UTSW	10	5,108,622 (GRCm38)	missense	probably benign	0.18
R8353:Syne1	UTSW	10	5,350,983 (GRCm38)	missense	probably damaging	1.00
R8376:Syne1	UTSW	10	5,043,615 (GRCm38)	missense	probably benign	0.09
R8398:Syne1	UTSW	10	5,124,923 (GRCm38)	missense	probably damaging	1.00
R8434:Syne1	UTSW	10	5,123,057 (GRCm38)	missense	probably benign	0.00
R8436:Syne1	UTSW	10	5,228,659 (GRCm38)	missense	probably benign	0.26
R8459:Syne1	UTSW	10	5,424,277 (GRCm38)	nonsense	probably null
R8461:Syne1	UTSW	10	5,061,463 (GRCm38)	missense	probably benign	0.34
R8496:Syne1	UTSW	10	5,318,441 (GRCm38)	missense	probably damaging	0.99
R8496:Syne1	UTSW	10	5,228,896 (GRCm38)	missense	probably damaging	0.99
R8693:Syne1	UTSW	10	5,140,928 (GRCm38)	missense	possibly damaging	0.60
R8698:Syne1	UTSW	10	5,229,229 (GRCm38)	missense	probably damaging	1.00
R8701:Syne1	UTSW	10	5,205,026 (GRCm38)	nonsense	probably null
R8713:Syne1	UTSW	10	5,316,040 (GRCm38)	missense	probably damaging	1.00
R8724:Syne1	UTSW	10	5,083,861 (GRCm38)	missense	possibly damaging	0.77
R8729:Syne1	UTSW	10	5,229,275 (GRCm38)	missense	probably benign	0.00
R8742:Syne1	UTSW	10	5,108,661 (GRCm38)	missense	probably benign	0.09
R8757:Syne1	UTSW	10	5,194,618 (GRCm38)	missense	probably damaging	1.00
R8776:Syne1	UTSW	10	5,231,783 (GRCm38)	missense	possibly damaging	0.81
R8776-TAIL:Syne1	UTSW	10	5,231,783 (GRCm38)	missense	possibly damaging	0.81
R8778:Syne1	UTSW	10	5,359,066 (GRCm38)	missense	probably benign	0.00
R8801:Syne1	UTSW	10	5,358,335 (GRCm38)	missense	probably damaging	1.00
R8803:Syne1	UTSW	10	5,361,535 (GRCm38)	missense	probably damaging	1.00
R8808:Syne1	UTSW	10	5,359,074 (GRCm38)	missense	probably damaging	1.00
R8829:Syne1	UTSW	10	5,108,685 (GRCm38)	missense	probably benign
R8843:Syne1	UTSW	10	5,193,040 (GRCm38)	missense	possibly damaging	0.88
R8843:Syne1	UTSW	10	5,330,204 (GRCm38)	missense	probably benign	0.01
R8854:Syne1	UTSW	10	5,128,503 (GRCm38)	missense	probably benign	0.00
R8863:Syne1	UTSW	10	5,099,527 (GRCm38)	missense	probably damaging	1.00
R8864:Syne1	UTSW	10	5,420,473 (GRCm38)	missense	probably benign	0.01
R8881:Syne1	UTSW	10	5,273,639 (GRCm38)	missense	probably damaging	1.00
R8884:Syne1	UTSW	10	5,231,822 (GRCm38)	missense	possibly damaging	0.93
R8893:Syne1	UTSW	10	5,349,020 (GRCm38)	nonsense	probably null
R8958:Syne1	UTSW	10	5,231,768 (GRCm38)	missense	probably benign
R8964:Syne1	UTSW	10	5,110,872 (GRCm38)	missense
R8975:Syne1	UTSW	10	5,211,945 (GRCm38)	missense	probably benign	0.04
R8987:Syne1	UTSW	10	5,227,579 (GRCm38)	missense	possibly damaging	0.92
R8992:Syne1	UTSW	10	5,185,508 (GRCm38)	missense	probably benign	0.01
R9005:Syne1	UTSW	10	5,205,406 (GRCm38)	missense	probably benign
R9084:Syne1	UTSW	10	5,339,240 (GRCm38)	missense	probably benign	0.01
R9117:Syne1	UTSW	10	5,103,667 (GRCm38)	missense	probably damaging	0.96
R9128:Syne1	UTSW	10	5,108,556 (GRCm38)	missense	probably benign	0.38
R9181:Syne1	UTSW	10	5,113,994 (GRCm38)	missense	probably damaging	0.99
R9189:Syne1	UTSW	10	5,222,289 (GRCm38)	missense	probably benign	0.00
R9189:Syne1	UTSW	10	5,173,008 (GRCm38)	missense	probably damaging	1.00
R9205:Syne1	UTSW	10	5,202,013 (GRCm38)	nonsense	probably null
R9217:Syne1	UTSW	10	5,349,324 (GRCm38)	missense	probably damaging	1.00
R9246:Syne1	UTSW	10	5,305,706 (GRCm38)	missense	probably benign	0.00
R9264:Syne1	UTSW	10	5,262,793 (GRCm38)	missense	probably damaging	1.00
R9273:Syne1	UTSW	10	5,040,901 (GRCm38)	missense	probably benign	0.16
R9315:Syne1	UTSW	10	5,333,553 (GRCm38)	missense	possibly damaging	0.79
R9331:Syne1	UTSW	10	5,123,666 (GRCm38)	missense	probably benign	0.45
R9355:Syne1	UTSW	10	5,368,255 (GRCm38)	missense	probably damaging	1.00
R9378:Syne1	UTSW	10	5,250,954 (GRCm38)	missense	probably damaging	0.96
R9389:Syne1	UTSW	10	5,229,193 (GRCm38)	missense	possibly damaging	0.65
R9395:Syne1	UTSW	10	5,311,728 (GRCm38)	missense	probably damaging	1.00
R9405:Syne1	UTSW	10	5,202,030 (GRCm38)	missense	probably damaging	1.00
R9417:Syne1	UTSW	10	5,132,021 (GRCm38)	missense	probably benign
R9419:Syne1	UTSW	10	5,205,071 (GRCm38)	missense	probably benign	0.01
R9473:Syne1	UTSW	10	5,248,258 (GRCm38)	missense	probably benign	0.00
R9484:Syne1	UTSW	10	5,220,359 (GRCm38)	missense	probably damaging	1.00
R9505:Syne1	UTSW	10	5,030,394 (GRCm38)	missense	probably benign	0.00
R9509:Syne1	UTSW	10	5,348,927 (GRCm38)	critical splice donor site	probably null
R9546:Syne1	UTSW	10	5,243,123 (GRCm38)	missense	probably damaging	1.00
R9567:Syne1	UTSW	10	5,246,386 (GRCm38)	missense	possibly damaging	0.54
R9601:Syne1	UTSW	10	5,259,270 (GRCm38)	missense	probably benign	0.23
R9619:Syne1	UTSW	10	5,140,909 (GRCm38)	missense	probably benign	0.03
R9621:Syne1	UTSW	10	5,323,887 (GRCm38)	missense	probably benign	0.01
R9623:Syne1	UTSW	10	5,202,009 (GRCm38)	missense	probably damaging	1.00
R9646:Syne1	UTSW	10	5,229,187 (GRCm38)	missense	possibly damaging	0.95
R9666:Syne1	UTSW	10	5,034,937 (GRCm38)	missense	probably damaging	1.00
R9677:Syne1	UTSW	10	5,265,125 (GRCm38)	missense	probably damaging	1.00
R9695:Syne1	UTSW	10	5,318,461 (GRCm38)	missense	probably benign	0.03
R9696:Syne1	UTSW	10	5,347,847 (GRCm38)	missense	probably benign	0.00
R9719:Syne1	UTSW	10	5,326,601 (GRCm38)	missense	possibly damaging	0.47
R9744:Syne1	UTSW	10	5,324,184 (GRCm38)	missense	probably benign	0.01
R9761:Syne1	UTSW	10	5,368,190 (GRCm38)	critical splice donor site	probably null
R9763:Syne1	UTSW	10	5,057,858 (GRCm38)	missense	probably benign	0.31
RF010:Syne1	UTSW	10	5,246,386 (GRCm38)	missense	possibly damaging	0.89
RF015:Syne1	UTSW	10	5,302,248 (GRCm38)	missense	probably benign	0.01
RF023:Syne1	UTSW	10	5,255,482 (GRCm38)	missense	probably damaging	1.00
X0017:Syne1	UTSW	10	5,346,917 (GRCm38)	missense	probably damaging	1.00
X0025:Syne1	UTSW	10	5,358,973 (GRCm38)	nonsense	probably null
X0063:Syne1	UTSW	10	5,052,354 (GRCm38)	missense	probably damaging	1.00
Z1176:Syne1	UTSW	10	5,330,251 (GRCm38)	missense	probably benign	0.10
Z1176:Syne1	UTSW	10	5,259,280 (GRCm38)	missense	probably benign
Z1176:Syne1	UTSW	10	5,248,364 (GRCm38)	missense	probably damaging	0.96
Z1177:Syne1	UTSW	10	5,259,349 (GRCm38)	missense	probably damaging	1.00
Z1177:Syne1	UTSW	10	5,143,230 (GRCm38)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TACAGTGACTGGGAAGCTGG -3'
(R):5'- TCATCCAGGAAAGTGAACCACTG -3'

Sequencing Primer
(F):5'- CTGGGAAGCTGGCTGGAG -3'
(R):5'- GTCCAGTATGGCATATCAGTCCG -3'

Posted On

2019-09-13