Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Syne1'

594069

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

MMRRC Submission

045763-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4970917-5501482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5195835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3945 (E3945G)

Ref Sequence

ENSEMBL: ENSMUSP00000150262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000215295
AA Change: E3945G

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

Meta Mutation Damage Score

0.1945

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

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
Abca5	A	G	11: 110,167,278 (GRCm39)		probably null	Het
AU040320	T	A	4: 126,708,166 (GRCm39)	S261T	probably benign	Het
Banp	T	A	8: 122,705,326 (GRCm39)	C65*	probably null	Het
Bloc1s5	T	C	13: 38,787,850 (GRCm39)	D178G	probably benign	Het
Cacna1c	A	G	6: 118,575,727 (GRCm39)	F1941L		Het
Ccdc121rt3	T	C	5: 112,503,063 (GRCm39)	K214E	probably benign	Het
Cd48	A	G	1: 171,523,348 (GRCm39)	I64V	probably damaging	Het
Cela3a	A	G	4: 137,135,501 (GRCm39)	S21P	probably benign	Het
Cidec	A	G	6: 113,411,415 (GRCm39)	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,588,803 (GRCm39)	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,748,048 (GRCm39)	L298F	probably benign	Het
Dnah1	C	A	14: 31,032,866 (GRCm39)	V390F	probably benign	Het
Dnah17	T	C	11: 118,012,304 (GRCm39)	D486G	possibly damaging	Het
Dnah17	T	C	11: 117,916,466 (GRCm39)	I4236V	probably benign	Het
Dpp6	T	A	5: 27,857,274 (GRCm39)	D406E	probably benign	Het
Dsp	C	T	13: 38,359,183 (GRCm39)	A318V	possibly damaging	Het
Duox1	T	C	2: 122,160,120 (GRCm39)	L745P	possibly damaging	Het
Ell	C	A	8: 70,992,364 (GRCm39)	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,459,775 (GRCm39)	L1832*	probably null	Het
Filip1	G	T	9: 79,727,931 (GRCm39)	N229K	probably benign	Het
Flg	A	T	3: 93,200,089 (GRCm39)	H195L	unknown	Het
Fndc7	G	T	3: 108,770,129 (GRCm39)	P685H	probably damaging	Het
Ggt1	A	G	10: 75,412,116 (GRCm39)	N120S	probably benign	Het
Gm4952	A	T	19: 12,604,428 (GRCm39)	H280L	probably benign	Het
Golim4	A	T	3: 75,794,091 (GRCm39)	D551E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmbs	A	C	9: 44,248,147 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,273,054 (GRCm39)	D474G	probably benign	Het
Ipo4	A	C	14: 55,869,787 (GRCm39)	H343Q	probably damaging	Het
Jade2	C	T	11: 51,707,744 (GRCm39)	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,274,841 (GRCm39)	T453I	probably damaging	Het
Klk6	T	C	7: 43,478,689 (GRCm39)	S199P	probably damaging	Het
Ltn1	A	T	16: 87,223,166 (GRCm39)	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,756,827 (GRCm39)	T394N	probably damaging	Het
Megf6	G	A	4: 154,354,927 (GRCm39)	D1445N	probably benign	Het
Mmp21	A	G	7: 133,280,791 (GRCm39)	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,904,585 (GRCm39)		probably null	Het
Nckipsd	A	T	9: 108,691,216 (GRCm39)	R38*	probably null	Het
Nob1	G	A	8: 108,139,737 (GRCm39)	R341*	probably null	Het
Or11g25	A	G	14: 50,723,751 (GRCm39)	T279A	possibly damaging	Het
Or1e19	T	A	11: 73,324,175 (GRCm39)		probably benign	Het
Or5ac22	A	G	16: 59,134,997 (GRCm39)	Y258H	probably damaging	Het
Pcdh1	A	G	18: 38,336,569 (GRCm39)	L22P	unknown	Het
Pebp4	T	A	14: 70,297,056 (GRCm39)	N198K	probably benign	Het
Pkp4	T	C	2: 59,138,757 (GRCm39)	S336P	probably damaging	Het
Prr5l	T	A	2: 101,547,442 (GRCm39)	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,756,340 (GRCm39)	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,756,341 (GRCm39)	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,705,219 (GRCm39)	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,820,915 (GRCm39)	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,096,932 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,037,161 (GRCm39)	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,140,236 (GRCm39)	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,288,539 (GRCm39)	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,345,415 (GRCm39)	C95S	probably benign	Het
Trappc8	C	T	18: 20,958,119 (GRCm39)	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,032,461 (GRCm39)	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r123	A	C	7: 20,896,302 (GRCm39)	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,577,553 (GRCm39)	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802 (GRCm39)	S438P	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	5,375,708 (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
FR4548:Syne1	UTSW	10	4,982,969 (GRCm39)	missense	probably benign	0.09
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
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'- TCCACCAGGTTCTCAAAGC -3'
(R):5'- TGGGGCTCAAAAGTCAACTC -3'

Sequencing Primer
(F):5'- GCGGTCATAATTCAGAGCTTCAC -3'
(R):5'- TCAACTCTGACATGTACCTGG -3'

Posted On

2019-11-12