Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:Syne1'

503046

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

044338-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5020917-5551482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5302269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 2462 (Y2462H)

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: Y2462H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,850 (GRCm38)		probably null	Het
1700061G19Rik	A	G	17: 56,882,679 (GRCm38)	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369 (GRCm38)	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502 (GRCm38)	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193 (GRCm38)	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916 (GRCm38)	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072 (GRCm38)	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435 (GRCm38)	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225 (GRCm38)	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285 (GRCm38)		probably null	Het
Cfh	A	G	1: 140,105,440 (GRCm38)	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362 (GRCm38)	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865 (GRCm38)	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877 (GRCm38)	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121 (GRCm38)	R26*	probably null	Het
Dgkb	A	T	12: 38,173,823 (GRCm38)	M414L	probably benign	Het
Dgkd	A	G	1: 87,924,208 (GRCm38)	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009 (GRCm38)	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858 (GRCm38)	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249 (GRCm38)	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698 (GRCm38)	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670 (GRCm38)	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590 (GRCm38)	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495 (GRCm38)	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655 (GRCm38)		probably benign	Het
Gm9573	T	A	17: 35,620,916 (GRCm38)		probably benign	Het
Golgb1	T	C	16: 36,893,395 (GRCm38)	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986 (GRCm38)	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,924,082 (GRCm38)	M391K	probably damaging	Het
Itih2	A	G	2: 10,098,541 (GRCm38)	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997 (GRCm38)	V1626E	probably benign	Het
Klhl40	A	G	9: 121,778,767 (GRCm38)	Y331C	probably damaging	Het
Kprp	T	A	3: 92,824,687 (GRCm38)	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022 (GRCm38)	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122 (GRCm38)		probably null	Het
Lrrc47	A	T	4: 154,015,672 (GRCm38)	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786 (GRCm38)	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843 (GRCm38)	K135M	probably damaging	Het
March5	A	G	19: 37,210,741 (GRCm38)	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851 (GRCm38)	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323 (GRCm38)	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988 (GRCm38)	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915 (GRCm38)	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373 (GRCm38)	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438 (GRCm38)	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951 (GRCm38)	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410 (GRCm38)	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210 (GRCm38)	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404 (GRCm38)	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611 (GRCm38)	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729 (GRCm38)		probably null	Het
Setd3	T	C	12: 108,165,168 (GRCm38)	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107 (GRCm38)	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215 (GRCm38)	T418A	probably benign	Het
Spocd1	C	T	4: 129,955,415 (GRCm38)	P676S	probably damaging	Het
Spp1	A	G	5: 104,439,508 (GRCm38)		probably null	Het
Tiam2	T	C	17: 3,414,121 (GRCm38)	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516 (GRCm38)	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590 (GRCm38)	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127 (GRCm38)	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510 (GRCm38)	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990 (GRCm38)	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153 (GRCm38)	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321 (GRCm38)	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915 (GRCm38)	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460 (GRCm38)	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007 (GRCm38)	F183Y	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
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
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'- TCACATGAATAGTCCCCATCAAGTG -3'
(R):5'- AGGCCTTTTCCCTCTAGTCTATG -3'

Sequencing Primer
(F):5'- GTCCCCATCAAGTGTTTGAAAAGTCC -3'
(R):5'- CCCTCTAGTCTATGCCTTGC -3'

Posted On

2018-02-27