Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Syne1'

554565

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5020917-5551482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5333023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1557 (S1557P)

Ref Sequence

ENSEMBL: ENSMUSP00000150262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041639] [ENSMUST00000215295]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041639

SMART Domains

Protein: ENSMUSP00000039440
Gene: ENSMUSG00000096054

Domain	Start	End	E-Value	Type
CH	29	139	4.55e-14	SMART
low complexity region	145	167	N/A	INTRINSIC
CH	187	285	9.67e-18	SMART
coiled coil region	425	452	N/A	INTRINSIC
Blast:SPEC	493	599	2e-28	BLAST
Blast:SPEC	606	695	7e-40	BLAST
Blast:SPEC	701	815	1e-32	BLAST
Blast:SPEC	815	913	4e-41	BLAST
Blast:SPEC	920	1013	9e-53	BLAST
Blast:SPEC	1117	1219	2e-60	BLAST
coiled coil region	1267	1329	N/A	INTRINSIC
low complexity region	1349	1368	N/A	INTRINSIC
coiled coil region	1399	1427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215295
AA Change: S1557P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041 (GRCm38)	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602 (GRCm38)	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378 (GRCm38)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905 (GRCm38)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195 (GRCm38)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm38)	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386 (GRCm38)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937 (GRCm38)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572 (GRCm38)	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269 (GRCm38)	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718 (GRCm38)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755 (GRCm38)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348 (GRCm38)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634 (GRCm38)	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584 (GRCm38)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243 (GRCm38)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896 (GRCm38)	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476 (GRCm38)	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234 (GRCm38)	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148 (GRCm38)	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790 (GRCm38)	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409 (GRCm38)	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199 (GRCm38)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671 (GRCm38)	T161A		Het
Hspg2	T	C	4: 137,550,373 (GRCm38)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919 (GRCm38)	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406 (GRCm38)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734 (GRCm38)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659 (GRCm38)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852 (GRCm38)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792 (GRCm38)		probably null	Het
Klrd1	A	G	6: 129,596,707 (GRCm38)	T120A	unknown	Het
Lfng	A	G	5: 140,612,528 (GRCm38)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067 (GRCm38)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323 (GRCm38)	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876 (GRCm38)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027 (GRCm38)	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309 (GRCm38)	T360A	probably damaging	Het
Olfr1231	T	C	2: 89,303,383 (GRCm38)	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061 (GRCm38)	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029 (GRCm38)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310 (GRCm38)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052 (GRCm38)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126 (GRCm38)	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829 (GRCm38)	Q420R		Het
Prl7d1	A	T	13: 27,714,337 (GRCm38)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300 (GRCm38)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377 (GRCm38)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958 (GRCm38)	V166A		Het
Robo4	T	C	9: 37,411,391 (GRCm38)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314 (GRCm38)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199 (GRCm38)	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717 (GRCm38)	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502 (GRCm38)	D377E	possibly damaging	Het
Syt6	C	T	3: 103,575,453 (GRCm38)	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227 (GRCm38)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023 (GRCm38)	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077 (GRCm38)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137 (GRCm38)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970 (GRCm38)	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508 (GRCm38)	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996 (GRCm38)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663 (GRCm38)	I6K	probably benign	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
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
R7334:Syne1	UTSW	10	5,057,886 (GRCm38)	missense	probably damaging	1.00
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'- CTTGGGTGTCTTGTAACAACAAATG -3'
(R):5'- ATGCCATTACACATTGCGTTAAGG -3'

Sequencing Primer
(F):5'- TGGACCGTTTAATTTCTCAACTAAC -3'
(R):5'- ACACATTGCGTTAAGGTTAAGTC -3'

Posted On

2019-06-07