Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Syne1'

552671

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

045216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5020917-5551482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5228221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 4751 (K4751R)

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: K4751R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,548,956 (GRCm38)	V435A	possibly damaging	Het
Abca13	A	G	11: 9,291,893 (GRCm38)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,365,031 (GRCm38)	F543I	probably damaging	Het
Adam15	T	A	3: 89,346,980 (GRCm38)	Q170L	possibly damaging	Het
AF366264	A	T	8: 13,836,982 (GRCm38)	W370R	probably damaging	Het
Aldoc	A	G	11: 78,324,456 (GRCm38)	I19V	possibly damaging	Het
Atrip	T	C	9: 109,060,420 (GRCm38)	I711M	probably benign	Het
Brwd1	A	C	16: 96,066,498 (GRCm38)	L149R	probably damaging	Het
Capn9	A	T	8: 124,576,278 (GRCm38)	D45V	probably damaging	Het
Card9	G	A	2: 26,358,835 (GRCm38)	R101C	probably damaging	Het
Casc1	A	T	6: 145,177,406 (GRCm38)	L578Q	probably null	Het
Ccdc36	A	T	9: 108,417,420 (GRCm38)	D98E	probably benign	Het
Ccdc87	A	G	19: 4,841,757 (GRCm38)	E759G	probably damaging	Het
Cep250	T	C	2: 155,965,077 (GRCm38)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,821,104 (GRCm38)	K3029E	probably benign	Het
Chrna9	G	A	5: 65,977,141 (GRCm38)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,940,775 (GRCm38)	S367L	probably benign	Het
Col5a1	A	G	2: 27,929,486 (GRCm38)	D200G	unknown	Het
Crhr2	T	C	6: 55,092,127 (GRCm38)	N388D		Het
Cyp2b23	A	G	7: 26,681,413 (GRCm38)	L129P	probably benign	Het
Cyr61	T	C	3: 145,648,781 (GRCm38)	D125G	probably damaging	Het
Dctd	A	G	8: 48,112,040 (GRCm38)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,904,070 (GRCm38)	V738L	probably benign	Het
Dnah17	C	T	11: 118,079,658 (GRCm38)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,681,772 (GRCm38)	A2819S	probably benign	Het
Dot1l	A	G	10: 80,792,341 (GRCm38)	H1071R	unknown	Het
Doxl2	T	A	6: 48,976,372 (GRCm38)	Y410*	probably null	Het
Dync2h1	T	A	9: 7,075,786 (GRCm38)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,658,064 (GRCm38)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,784,100 (GRCm38)	R29W	probably null	Het
Evc2	A	G	5: 37,410,258 (GRCm38)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,644,383 (GRCm38)		probably benign	Het
Fibp	T	A	19: 5,461,491 (GRCm38)	I129N	probably damaging	Het
Folh1	G	T	7: 86,726,112 (GRCm38)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 96,946,519 (GRCm38)	T108S	probably damaging	Het
Gm436	A	G	4: 144,670,067 (GRCm38)	V365A	probably damaging	Het
H1fnt	T	A	15: 98,256,369 (GRCm38)	K300*	probably null	Het
Hecw2	A	T	1: 53,865,121 (GRCm38)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,887,424 (GRCm38)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,939,780 (GRCm38)	C20*	probably null	Het
Ivd	C	A	2: 118,869,774 (GRCm38)	T94K	probably damaging	Het
Kank2	C	T	9: 21,794,679 (GRCm38)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,367,494 (GRCm38)	Y889C	probably damaging	Het
Kif13b	T	C	14: 64,773,068 (GRCm38)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,849,616 (GRCm38)		probably benign	Het
Kmt5b	T	A	19: 3,815,412 (GRCm38)	D825E	probably benign	Het
Krt39	C	T	11: 99,520,871 (GRCm38)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,785,457 (GRCm38)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,906,323 (GRCm38)	V365E	probably benign	Het
Lonp1	C	T	17: 56,617,814 (GRCm38)	R531Q	probably damaging	Het
Mecom	T	A	3: 29,980,945 (GRCm38)	H194L	probably damaging	Het
Mlx	C	T	11: 101,089,242 (GRCm38)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,375,015 (GRCm38)	S77P	probably damaging	Het
Mst1	A	G	9: 108,084,931 (GRCm38)	E716G	probably null	Het
Mttp	C	T	3: 138,116,132 (GRCm38)	V210I	probably benign	Het
Mug2	T	C	6: 122,075,247 (GRCm38)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm38)	M1T	probably null	Het
Neurog1	A	T	13: 56,251,750 (GRCm38)	N61K	probably benign	Het
Nlrp14	A	G	7: 107,184,814 (GRCm38)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,449,833 (GRCm38)	N288K	probably benign	Het
Notch3	T	A	17: 32,144,217 (GRCm38)	H1264L	probably benign	Het
Olfr384	A	T	11: 73,602,736 (GRCm38)	D52V	possibly damaging	Het
Olfr394	A	T	11: 73,887,954 (GRCm38)	C139*	probably null	Het
Olfr402	A	G	11: 74,155,780 (GRCm38)	M209V	probably benign	Het
Patl2	A	T	2: 122,121,782 (GRCm38)		probably null	Het
Pfkfb4	A	G	9: 109,007,302 (GRCm38)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,304,554 (GRCm38)	E471G	probably null	Het
Postn	T	C	3: 54,362,635 (GRCm38)	V45A	probably damaging	Het
Ppan	T	A	9: 20,891,154 (GRCm38)	V257E	possibly damaging	Het
Ptcra	C	G	17: 46,763,596 (GRCm38)	A7P	probably damaging	Het
Ptprd	C	T	4: 76,066,340 (GRCm38)	R523H	probably damaging	Het
Pycrl	A	T	15: 75,918,695 (GRCm38)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,095,079 (GRCm38)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,768,628 (GRCm38)	K668*	probably null	Het
Ryr2	A	G	13: 11,668,811 (GRCm38)		probably null	Het
Ryr2	A	T	13: 11,640,327 (GRCm38)	D3661E	possibly damaging	Het
Sec23ip	T	A	7: 128,779,640 (GRCm38)	S974T	probably damaging	Het
Setbp1	A	G	18: 79,086,960 (GRCm38)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,796,418 (GRCm38)		probably benign	Het
Sh3pxd2b	A	G	11: 32,422,072 (GRCm38)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,449,803 (GRCm38)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,002,202 (GRCm38)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,427,893 (GRCm38)	I109S	probably damaging	Het
Spg20	T	C	3: 55,121,799 (GRCm38)		probably null	Het
Sptbn2	A	T	19: 4,749,460 (GRCm38)	Q2097L	probably null	Het
Tigit	C	A	16: 43,662,252 (GRCm38)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,297,972 (GRCm38)	I264K	probably damaging	Het
Tom1	T	A	8: 75,057,249 (GRCm38)	I287N	possibly damaging	Het
Top2a	G	A	11: 99,004,182 (GRCm38)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,571,066 (GRCm38)	V290E	probably damaging	Het
Try4	T	C	6: 41,304,403 (GRCm38)	I93T	probably benign	Het
Usp24	T	A	4: 106,382,303 (GRCm38)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,193,935 (GRCm38)	R109S	probably benign	Het
Vav3	T	A	3: 109,664,346 (GRCm38)	F755I	probably damaging	Het
Vezt	A	T	10: 93,970,547 (GRCm38)	Y667*	probably null	Het
Vmn1r231	T	A	17: 20,889,878 (GRCm38)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,395,528 (GRCm38)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm38)	T449A	probably benign	Het
Zfp956	C	A	6: 47,955,847 (GRCm38)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,525,273 (GRCm38)	W152R	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	5,425,708 (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
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'- GTTTGAGCAGAATCCCCGAG -3'
(R):5'- GCCTTCAGACCTGATAGTTGAG -3'

Sequencing Primer
(F):5'- AGAATCCCCGAGTCCTGCAG -3'
(R):5'- CCTTCAGACCTGATAGTTGAGGAGAG -3'

Posted On

2019-05-15