Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Syne1'

724806

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4970917-5501482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5273887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1966 (A1966T)

Ref Sequence

ENSEMBL: ENSMUSP00000150262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000215295
AA Change: A1966T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,092,918 (GRCm39)	T289A	probably benign	Het
Adnp	A	T	2: 168,024,663 (GRCm39)	S877R	probably benign	Het
Akap13	T	A	7: 75,386,090 (GRCm39)	H555Q	probably benign	Het
Alg6	T	A	4: 99,615,131 (GRCm39)	Y38*	probably null	Het
Amtn	C	A	5: 88,528,205 (GRCm39)	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,293,424 (GRCm39)	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,393,520 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,512 (GRCm39)	N711D	possibly damaging	Het
Bhmt	A	G	13: 93,758,079 (GRCm39)	S211P	possibly damaging	Het
Bltp3a	T	A	17: 28,105,753 (GRCm39)	S760T	probably benign	Het
Bmp1	T	C	14: 70,715,306 (GRCm39)	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cbfb	A	C	8: 105,905,243 (GRCm39)	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,386,355 (GRCm39)	F249L	probably damaging	Het
Cdh26	T	A	2: 178,111,983 (GRCm39)	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,866,350 (GRCm39)	E352G		Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Cfdp1	A	G	8: 112,571,807 (GRCm39)	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,965,726 (GRCm39)	I846F	probably damaging	Het
Cntrl	A	G	2: 35,050,278 (GRCm39)	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,326,613 (GRCm39)	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,713,116 (GRCm39)	S778R		Het
Daam2	C	T	17: 49,780,332 (GRCm39)	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,489,132 (GRCm39)	H305R	probably damaging	Het
Dio1	C	T	4: 107,149,558 (GRCm39)	C248Y	probably benign	Het
Dnah1	C	A	14: 31,016,772 (GRCm39)	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,386,632 (GRCm39)	D319E	probably benign	Het
Fam171b	G	A	2: 83,643,109 (GRCm39)	R6H	probably damaging	Het
Flnb	G	A	14: 7,926,421 (GRCm38)	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,279,363 (GRCm39)	V303I	possibly damaging	Het
Gli3	T	G	13: 15,901,253 (GRCm39)	S1547A	probably benign	Het
Gm4884	A	T	7: 40,693,111 (GRCm39)	N360I	possibly damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Ino80	C	G	2: 119,280,496 (GRCm39)	K289N	probably damaging	Het
Itpr1	G	A	6: 108,393,870 (GRCm39)	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,274,812 (GRCm39)	I45F	unknown	Het
Kif1a	G	A	1: 92,983,445 (GRCm39)	P684L	probably benign	Het
Kpnb1	A	T	11: 97,058,460 (GRCm39)	S610T	probably benign	Het
Man1a2	A	G	3: 100,591,961 (GRCm39)	V73A	probably benign	Het
Mbtps1	A	G	8: 120,235,621 (GRCm39)	V1019A	possibly damaging	Het
Muc21	T	A	17: 35,932,720 (GRCm39)	T489S	unknown	Het
Nup210	G	C	6: 90,994,375 (GRCm39)	N1774K	probably benign	Het
Or10p21	G	T	10: 128,847,759 (GRCm39)	V202F	probably benign	Het
Pik3c2b	T	C	1: 132,999,345 (GRCm39)	S398P	probably damaging	Het
Pmpca	A	G	2: 26,279,988 (GRCm39)	T37A	probably benign	Het
Ppfia1	A	G	7: 144,052,516 (GRCm39)	S840P	probably damaging	Het
Prkcq	A	T	2: 11,261,014 (GRCm39)	K355N	probably benign	Het
Prorp	C	A	12: 55,429,042 (GRCm39)	H538N	probably benign	Het
Ptprg	A	G	14: 12,237,809 (GRCm38)	K1422R	probably benign	Het
Ptprq	T	C	10: 107,378,523 (GRCm39)	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,671,135 (GRCm39)		probably null	Het
Rcor2	A	T	19: 7,251,591 (GRCm39)	T412S	probably benign	Het
Rnf224	A	T	2: 25,126,200 (GRCm39)	M51K	probably benign	Het
Robo4	A	G	9: 37,317,509 (GRCm39)	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,084,115 (GRCm39)	S360T	unknown	Het
Sgo2b	T	C	8: 64,380,651 (GRCm39)	D727G	probably damaging	Het
Smpd2	C	A	10: 41,364,283 (GRCm39)	V172L	probably benign	Het
Spring1	C	T	5: 118,393,880 (GRCm39)	T86I	possibly damaging	Het
Syt13	G	A	2: 92,745,575 (GRCm39)	G15D	possibly damaging	Het
Taf3	A	T	2: 9,923,070 (GRCm39)	L18Q	unknown	Het
Tcam1	T	A	11: 106,176,259 (GRCm39)	N328K	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tet2	A	T	3: 133,193,767 (GRCm39)	Y222*	probably null	Het
Timm29	A	T	9: 21,504,218 (GRCm39)		probably benign	Het
Tmc6	T	C	11: 117,669,995 (GRCm39)	D17G	probably benign	Het
Tmem30a	T	A	9: 79,687,926 (GRCm39)	D81V	probably benign	Het
Tnnt1	T	C	7: 4,511,501 (GRCm39)	I195V	probably benign	Het
Ttll5	T	A	12: 85,938,896 (GRCm39)	V398E	possibly damaging	Het
Ttn	T	C	2: 76,748,441 (GRCm39)	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,464,511 (GRCm39)	I272T	probably damaging	Het
Unc45a	A	G	7: 79,983,785 (GRCm39)	L337P	probably damaging	Het
Vmn1r229	T	C	17: 21,035,315 (GRCm39)	F187L	probably benign	Het
Wrn	A	T	8: 33,814,301 (GRCm39)	M381K	probably benign	Het
Zdbf2	A	G	1: 63,342,635 (GRCm39)	N338S	possibly damaging	Het
Zfp541	A	G	7: 15,805,892 (GRCm39)	E9G	possibly damaging	Het
Zrsr2-ps1	G	A	11: 22,923,418 (GRCm39)	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,772,231 (GRCm39)	S1614T	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	5,375,708 (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
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
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'- AGAGCACCATTAAAGCTTTGC -3'
(R):5'- TCACAGTGCCATTCAAGATGTG -3'

Sequencing Primer
(F):5'- CACCATTAAAGCTTTGCAGGAAAGTG -3'
(R):5'- GTGAAAACATTAGAATCCAGTGCC -3'

Posted On

2022-09-12