Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Syne1'

716455

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9484 (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 C at 5220359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 5183 (L5183R)

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: L5183R

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786 (GRCm38)	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344 (GRCm38)	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269 (GRCm38)	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833 (GRCm38)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647 (GRCm38)	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163 (GRCm38)	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937 (GRCm38)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917 (GRCm38)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712 (GRCm38)	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296 (GRCm38)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111 (GRCm38)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444 (GRCm38)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208 (GRCm38)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746 (GRCm38)	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432 (GRCm38)	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568 (GRCm38)	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825 (GRCm38)	E1262G	unknown	Het
Evl	T	A	12: 108,686,457 (GRCm38)	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926 (GRCm38)	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797 (GRCm38)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134 (GRCm38)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026 (GRCm38)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039 (GRCm38)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215 (GRCm38)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm38)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003 (GRCm38)	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479 (GRCm38)	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015 (GRCm38)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032 (GRCm38)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678 (GRCm38)	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782 (GRCm38)	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334 (GRCm38)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694 (GRCm38)		probably null	Het
Krtap5-3	T	A	7: 142,202,331 (GRCm38)	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309 (GRCm38)	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594 (GRCm38)	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468 (GRCm38)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336 (GRCm38)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm38)	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488 (GRCm38)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240 (GRCm38)	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638 (GRCm38)	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348 (GRCm38)	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417 (GRCm38)	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371 (GRCm38)	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991 (GRCm38)	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033 (GRCm38)		probably null	Het
Otogl	C	T	10: 107,901,295 (GRCm38)	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844 (GRCm38)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894 (GRCm38)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426 (GRCm38)	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524 (GRCm38)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809 (GRCm38)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617 (GRCm38)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407 (GRCm38)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549 (GRCm38)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947 (GRCm38)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786 (GRCm38)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234 (GRCm38)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946 (GRCm38)	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466 (GRCm38)	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973 (GRCm38)	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973 (GRCm38)		probably benign	Het
Stra8	T	A	6: 34,934,186 (GRCm38)	W250R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250 (GRCm38)	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883 (GRCm38)	E27*	probably null	Het
Thada	C	A	17: 84,429,191 (GRCm38)	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629 (GRCm38)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356 (GRCm38)	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944 (GRCm38)	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838 (GRCm38)	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267 (GRCm38)	S233P	unknown	Het
Urm1	T	A	2: 29,842,748 (GRCm38)	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765 (GRCm38)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922 (GRCm38)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088 (GRCm38)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433 (GRCm38)	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843 (GRCm38)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010 (GRCm38)	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979 (GRCm38)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281 (GRCm38)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157 (GRCm38)	I390V	possibly 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
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
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'- GCAAAGGCAAAACACCAGTT -3'
(R):5'- CTTTAGCCAAGTCCACAGAATTT -3'

Sequencing Primer
(F):5'- ACCAGTTTTTCAAACATGCGC -3'
(R):5'- TAGCCAAGTCCACAGAATTTAAAAG -3'

Posted On

2022-07-18