Mutagenetix > Incidental Mutation

Incidental Mutation 'R9505:Syne1'

717785

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 #

R9505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4970917-5501482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4980394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 864 (V864A)

Ref Sequence

ENSEMBL: ENSMUSP00000093587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095899] [ENSMUST00000215295]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095899
AA Change: V864A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093587
Gene: ENSMUSG00000096054
AA Change: V864A

Domain	Start	End	E-Value	Type
SPEC	43	150	6.95e-13	SMART
SPEC	157	259	1.55e-10	SMART
SPEC	266	366	3.4e-16	SMART
low complexity region	372	386	N/A	INTRINSIC
low complexity region	403	421	N/A	INTRINSIC
low complexity region	459	468	N/A	INTRINSIC
coiled coil region	483	505	N/A	INTRINSIC
SPEC	595	698	6.9e-17	SMART
SPEC	705	809	8.82e-1	SMART
low complexity region	811	826	N/A	INTRINSIC
low complexity region	869	882	N/A	INTRINSIC
KASH	892	949	5.15e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215295
AA Change: V8714A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,185,782 (GRCm39)		probably benign	Het
Adamts17	A	C	7: 66,774,683 (GRCm39)	N961T	probably benign	Het
Adamts3	G	A	5: 89,855,751 (GRCm39)	T373I	probably damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bicd1	A	C	6: 149,385,522 (GRCm39)	E85A	probably benign	Het
Brca1	G	T	11: 101,403,592 (GRCm39)	H1437N	probably benign	Het
Camk2n1	T	C	4: 138,182,567 (GRCm39)	I24T	possibly damaging	Het
Ces2f	T	A	8: 105,676,669 (GRCm39)	M121K	probably benign	Het
Cfap299	A	G	5: 98,477,213 (GRCm39)	M1V	probably null	Het
CN725425	T	A	15: 91,124,867 (GRCm39)	Y136N	possibly damaging	Het
Ctla2a	T	A	13: 61,084,342 (GRCm39)	M2L	unknown	Het
Cyp3a57	A	T	5: 145,286,139 (GRCm39)	Y25F	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Dnah3	A	T	7: 119,644,912 (GRCm39)	I1123N	probably damaging	Het
Fcgbpl1	A	T	7: 27,841,909 (GRCm39)	K615*	probably null	Het
Fkbp10	G	T	11: 100,306,826 (GRCm39)	E73*	probably null	Het
Flnb	C	A	14: 7,904,665 (GRCm38)	H1023N	probably benign	Het
Gapvd1	T	A	2: 34,613,026 (GRCm39)	Q312H		Het
Garre1	A	T	7: 33,984,371 (GRCm39)	L84Q	probably damaging	Het
Htr1d	A	T	4: 136,170,889 (GRCm39)	I373F	probably benign	Het
Inhba	G	A	13: 16,201,356 (GRCm39)	R306H	probably damaging	Het
Inka1	T	A	9: 107,862,092 (GRCm39)	K75*	probably null	Het
Iqcg	A	T	16: 32,861,247 (GRCm39)	D156E	probably benign	Het
Ireb2	C	A	9: 54,813,921 (GRCm39)	T798K	probably damaging	Het
Klk1b8	G	A	7: 43,451,605 (GRCm39)	A199T	probably damaging	Het
Lgi2	T	C	5: 52,711,775 (GRCm39)	T182A	probably benign	Het
Ltbp2	C	A	12: 84,900,638 (GRCm39)	R228L	probably damaging	Het
Lyrm1	A	G	7: 119,509,090 (GRCm39)	K22E	possibly damaging	Het
Mybbp1a	A	G	11: 72,339,897 (GRCm39)	D967G	probably benign	Het
Nr6a1	C	T	2: 38,630,485 (GRCm39)	R259Q	probably benign	Het
Or4e2	A	G	14: 52,687,929 (GRCm39)	N20D	probably benign	Het
Or51aa5	T	C	7: 103,167,446 (GRCm39)	I48M	probably benign	Het
Or51i1	C	A	7: 103,670,698 (GRCm39)	V276F	probably damaging	Het
Pak5	A	T	2: 135,958,812 (GRCm39)	I92N	probably damaging	Het
Pcdhb5	T	A	18: 37,454,664 (GRCm39)	I348K	possibly damaging	Het
Phf2	C	T	13: 48,957,134 (GRCm39)	A1078T	probably damaging	Het
Rnf103	T	C	6: 71,487,049 (GRCm39)	V560A	probably benign	Het
Slc27a4	A	G	2: 29,701,608 (GRCm39)	I409V	probably benign	Het
Spata18	T	A	5: 73,809,017 (GRCm39)		probably null	Het
Spon1	A	G	7: 113,632,311 (GRCm39)	T545A	probably damaging	Het
Stab1	A	G	14: 30,877,722 (GRCm39)	S772P	probably damaging	Het
Stox2	A	T	8: 47,645,304 (GRCm39)	S719T	probably benign	Het
Syngap1	A	G	17: 27,180,579 (GRCm39)	S836G	probably benign	Het
Tiparp	G	T	3: 65,439,577 (GRCm39)	E298*	probably null	Het
Tmem52	A	G	4: 155,554,615 (GRCm39)	T114A	probably damaging	Het
Trim36	C	A	18: 46,329,281 (GRCm39)	C53F	probably damaging	Het
Ttn	T	C	2: 76,720,811 (GRCm39)	K6871R	unknown	Het
Ttn	C	A	2: 76,715,468 (GRCm39)		probably null	Het
Ube2d1	T	C	10: 71,098,094 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,824 (GRCm39)	T676A	probably benign	Het
Vinac1	A	T	2: 128,878,838 (GRCm39)	D1029E	unknown	Het
Vps13a	A	T	19: 16,719,908 (GRCm39)	Y417N	possibly damaging	Het
Zfp729a	C	T	13: 67,767,673 (GRCm39)	C852Y	probably damaging	Het

Other mutations in Syne1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Syne1	APN	10	5,342,167 (GRCm38)	synonymous	probably benign
IGL00725:Syne1	APN	10	5,344,922 (GRCm38)	missense	possibly damaging	0.48
IGL00799:Syne1	APN	10	5,347,878 (GRCm38)	missense	probably benign	0.00
IGL01087:Syne1	APN	10	5,375,708 (GRCm39)	missense	probably damaging	1.00
IGL01123:Syne1	APN	10	5,294,921 (GRCm39)	nonsense	probably null
IGL01147:Syne1	APN	10	5,002,691 (GRCm39)	nonsense	probably null
IGL01150:Syne1	APN	10	5,393,154 (GRCm39)	missense	probably damaging	1.00
IGL01154:Syne1	APN	10	5,310,848 (GRCm39)	missense	probably damaging	1.00
IGL01727:Syne1	APN	10	4,997,842 (GRCm39)	missense	probably damaging	0.99
IGL01761:Syne1	APN	10	5,355,456 (GRCm39)	missense	probably damaging	1.00
IGL01793:Syne1	APN	10	5,302,191 (GRCm39)	missense	possibly damaging	0.67
IGL01961:Syne1	APN	10	4,993,723 (GRCm39)	missense	possibly damaging	0.94
IGL01975:Syne1	APN	10	5,018,908 (GRCm39)	intron	probably benign
IGL02152:Syne1	APN	10	5,374,382 (GRCm39)	missense	probably damaging	1.00
IGL02423:Syne1	APN	10	5,318,295 (GRCm39)	missense	probably benign	0.00
IGL02457:Syne1	APN	10	5,292,167 (GRCm39)	missense	probably damaging	1.00
IGL02543:Syne1	APN	10	4,993,618 (GRCm39)	missense	probably damaging	0.97
IGL02836:Syne1	APN	10	5,359,875 (GRCm39)	splice site	probably benign
IGL03141:Syne1	APN	10	5,374,261 (GRCm39)	missense	probably damaging	1.00
FR4548:Syne1	UTSW	10	4,982,969 (GRCm39)	missense	probably benign	0.09
IGL02799:Syne1	UTSW	10	5,309,059 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Syne1	UTSW	10	5,283,023 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Syne1	UTSW	10	5,308,390 (GRCm39)	missense	possibly damaging	0.87
R0004:Syne1	UTSW	10	5,393,132 (GRCm39)	splice site	probably benign
R0110:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0165:Syne1	UTSW	10	4,983,096 (GRCm39)	missense	probably benign	0.28
R0194:Syne1	UTSW	10	5,374,311 (GRCm39)	missense	probably benign
R0311:Syne1	UTSW	10	5,298,943 (GRCm39)	missense	possibly damaging	0.92
R0328:Syne1	UTSW	10	5,298,945 (GRCm39)	missense	possibly damaging	0.62
R0379:Syne1	UTSW	10	5,491,989 (GRCm39)	missense	probably damaging	1.00
R0387:Syne1	UTSW	10	5,301,029 (GRCm39)	missense	probably benign
R0452:Syne1	UTSW	10	5,355,435 (GRCm39)	missense	probably damaging	0.98
R0456:Syne1	UTSW	10	5,292,252 (GRCm39)	missense	probably benign	0.04
R0457:Syne1	UTSW	10	4,972,041 (GRCm39)	missense	probably damaging	1.00
R0469:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0510:Syne1	UTSW	10	5,317,600 (GRCm39)	missense	probably damaging	1.00
R0533:Syne1	UTSW	10	5,308,438 (GRCm39)	missense	probably benign	0.00
R0617:Syne1	UTSW	10	5,300,933 (GRCm39)	missense	probably damaging	1.00
R0690:Syne1	UTSW	10	4,983,138 (GRCm39)	splice site	probably benign
R0964:Syne1	UTSW	10	4,993,652 (GRCm39)	missense	possibly damaging	0.95
R1133:Syne1	UTSW	10	5,299,044 (GRCm39)	missense	possibly damaging	0.77
R1327:Syne1	UTSW	10	4,998,925 (GRCm39)	splice site	probably benign
R1339:Syne1	UTSW	10	5,317,571 (GRCm39)	missense	probably damaging	1.00
R1531:Syne1	UTSW	10	5,297,875 (GRCm39)	nonsense	probably null
R1558:Syne1	UTSW	10	5,299,280 (GRCm39)	nonsense	probably null
R1633:Syne1	UTSW	10	5,299,388 (GRCm39)	missense	probably damaging	1.00
R1642:Syne1	UTSW	10	5,298,694 (GRCm39)	missense	possibly damaging	0.94
R1658:Syne1	UTSW	10	5,317,616 (GRCm39)	missense	probably benign	0.03
R1753:Syne1	UTSW	10	5,317,621 (GRCm39)	missense	probably benign	0.28
R1759:Syne1	UTSW	10	5,299,369 (GRCm39)	missense	probably damaging	1.00
R1792:Syne1	UTSW	10	4,990,975 (GRCm39)	missense	probably damaging	1.00
R2076:Syne1	UTSW	10	4,990,897 (GRCm39)	missense	probably damaging	0.99
R2079:Syne1	UTSW	10	5,311,502 (GRCm39)	missense	probably benign	0.01
R2102:Syne1	UTSW	10	5,006,514 (GRCm39)	missense	probably damaging	1.00
R2233:Syne1	UTSW	10	4,991,484 (GRCm39)	missense	probably benign	0.01
R2305:Syne1	UTSW	10	4,997,573 (GRCm39)	missense	probably damaging	0.97
R3435:Syne1	UTSW	10	5,298,565 (GRCm39)	missense	probably damaging	1.00
R3749:Syne1	UTSW	10	5,002,267 (GRCm39)	splice site	probably benign
R3876:Syne1	UTSW	10	5,002,345 (GRCm39)	missense	possibly damaging	0.57
R3895:Syne1	UTSW	10	5,355,456 (GRCm39)	missense	probably damaging	0.98
R3974:Syne1	UTSW	10	4,993,630 (GRCm39)	missense	probably benign	0.06
R4042:Syne1	UTSW	10	4,991,584 (GRCm39)	missense	probably benign	0.21
R4120:Syne1	UTSW	10	5,359,798 (GRCm39)	missense	probably damaging	1.00
R4201:Syne1	UTSW	10	5,297,870 (GRCm39)	missense	probably benign
R4364:Syne1	UTSW	10	5,303,987 (GRCm39)	missense	probably damaging	0.96
R4498:Syne1	UTSW	10	4,981,768 (GRCm39)	missense	probably benign	0.00
R4767:Syne1	UTSW	10	5,294,866 (GRCm39)	nonsense	probably null
R4804:Syne1	UTSW	10	5,299,310 (GRCm39)	missense	possibly damaging	0.95
R4917:Syne1	UTSW	10	5,007,909 (GRCm39)	missense	probably damaging	1.00
R4930:Syne1	UTSW	10	5,002,777 (GRCm39)	missense	probably damaging	0.99
R5081:Syne1	UTSW	10	4,997,767 (GRCm39)	missense	probably benign	0.04
R5089:Syne1	UTSW	10	5,355,444 (GRCm39)	nonsense	probably null
R5174:Syne1	UTSW	10	4,991,490 (GRCm39)	missense	probably damaging	0.99
R5205:Syne1	UTSW	10	5,002,295 (GRCm39)	missense	probably benign	0.05
R5303:Syne1	UTSW	10	5,370,464 (GRCm39)	missense	probably benign	0.00
R5384:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5385:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5392:Syne1	UTSW	10	5,298,661 (GRCm39)	missense	probably damaging	1.00
R5442:Syne1	UTSW	10	5,293,473 (GRCm39)	missense	probably benign	0.09
R5750:Syne1	UTSW	10	5,289,209 (GRCm39)	missense	probably benign	0.01
R5935:Syne1	UTSW	10	5,310,706 (GRCm39)	splice site	probably null
R6015:Syne1	UTSW	10	5,296,819 (GRCm39)	critical splice donor site	probably null
R6023:Syne1	UTSW	10	5,393,223 (GRCm39)	missense	probably benign	0.09
R6049:Syne1	UTSW	10	5,297,926 (GRCm39)	missense	possibly damaging	0.79
R6084:Syne1	UTSW	10	5,298,994 (GRCm39)	missense	probably damaging	1.00
R6145:Syne1	UTSW	10	5,002,750 (GRCm39)	missense	probably damaging	1.00
R6164:Syne1	UTSW	10	5,011,429 (GRCm39)	missense	probably damaging	1.00
R6165:Syne1	UTSW	10	5,375,678 (GRCm39)	missense	probably damaging	1.00
R6198:Syne1	UTSW	10	5,252,269 (GRCm39)	missense	probably damaging	0.99
R6217:Syne1	UTSW	10	5,243,761 (GRCm39)	missense	probably benign	0.00
R6247:Syne1	UTSW	10	5,299,071 (GRCm39)	missense	probably damaging	0.98
R6271:Syne1	UTSW	10	5,184,652 (GRCm39)	missense	probably damaging	1.00
R6338:Syne1	UTSW	10	5,205,475 (GRCm39)	missense	probably benign	0.00
R6344:Syne1	UTSW	10	4,972,212 (GRCm39)	missense	probably benign	0.08
R6434:Syne1	UTSW	10	5,268,422 (GRCm39)	missense	probably benign	0.01
R6476:Syne1	UTSW	10	5,104,531 (GRCm39)	missense	possibly damaging	0.88
R6479:Syne1	UTSW	10	5,406,826 (GRCm39)	missense	probably damaging	1.00
R6479:Syne1	UTSW	10	5,181,679 (GRCm39)	nonsense	probably null
R6546:Syne1	UTSW	10	5,168,645 (GRCm39)	nonsense	probably null
R6578:Syne1	UTSW	10	5,355,454 (GRCm39)	nonsense	probably null
R6611:Syne1	UTSW	10	4,995,273 (GRCm39)	missense	probably benign	0.01
R6615:Syne1	UTSW	10	5,251,340 (GRCm39)	missense	probably damaging	0.98
R6632:Syne1	UTSW	10	5,165,667 (GRCm39)	critical splice donor site	probably null
R6662:Syne1	UTSW	10	5,078,416 (GRCm39)	missense	probably damaging	1.00
R6677:Syne1	UTSW	10	4,990,942 (GRCm39)	missense	possibly damaging	0.82
R6764:Syne1	UTSW	10	5,179,011 (GRCm39)	nonsense	probably null
R6765:Syne1	UTSW	10	5,093,285 (GRCm39)	splice site	probably null
R6778:Syne1	UTSW	10	5,052,406 (GRCm39)	missense	probably damaging	0.97
R6851:Syne1	UTSW	10	5,212,703 (GRCm39)	nonsense	probably null
R6878:Syne1	UTSW	10	5,370,388 (GRCm39)	missense	possibly damaging	0.78
R6883:Syne1	UTSW	10	5,181,704 (GRCm39)	nonsense	probably null
R6910:Syne1	UTSW	10	4,998,887 (GRCm39)	missense	probably benign	0.01
R6916:Syne1	UTSW	10	5,177,912 (GRCm39)	missense	probably benign	0.00
R6925:Syne1	UTSW	10	5,076,682 (GRCm39)	missense	probably benign	0.00
R6943:Syne1	UTSW	10	5,033,940 (GRCm39)	missense	probably benign
R6947:Syne1	UTSW	10	5,125,789 (GRCm39)	missense	probably damaging	1.00
R6965:Syne1	UTSW	10	5,179,120 (GRCm39)	missense	possibly damaging	0.66
R6968:Syne1	UTSW	10	5,067,041 (GRCm39)	missense	probably benign	0.09
R7043:Syne1	UTSW	10	5,022,193 (GRCm39)	missense	possibly damaging	0.77
R7059:Syne1	UTSW	10	5,296,859 (GRCm39)	missense	probably damaging	1.00
R7067:Syne1	UTSW	10	5,184,586 (GRCm39)	missense	probably damaging	1.00
R7087:Syne1	UTSW	10	5,492,024 (GRCm39)	start gained	probably benign
R7099:Syne1	UTSW	10	5,073,744 (GRCm39)	missense	probably benign	0.43
R7107:Syne1	UTSW	10	5,082,078 (GRCm39)	missense	probably damaging	1.00
R7120:Syne1	UTSW	10	5,243,971 (GRCm39)	missense	probably benign
R7127:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7128:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7131:Syne1	UTSW	10	5,178,221 (GRCm39)	missense	probably damaging	1.00
R7132:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7133:Syne1	UTSW	10	5,181,592 (GRCm39)	missense	probably damaging	1.00
R7135:Syne1	UTSW	10	5,183,409 (GRCm39)	missense	probably benign	0.01
R7147:Syne1	UTSW	10	5,199,340 (GRCm39)	missense	probably damaging	1.00
R7158:Syne1	UTSW	10	5,007,931 (GRCm39)	missense	probably damaging	1.00
R7189:Syne1	UTSW	10	5,374,295 (GRCm39)	missense	probably benign	0.03
R7193:Syne1	UTSW	10	5,183,406 (GRCm39)	missense	probably damaging	1.00
R7194:Syne1	UTSW	10	5,060,859 (GRCm39)	missense	probably damaging	1.00
R7233:Syne1	UTSW	10	5,252,160 (GRCm39)	missense	probably damaging	1.00
R7255:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7267:Syne1	UTSW	10	5,178,218 (GRCm39)	missense	probably damaging	1.00
R7294:Syne1	UTSW	10	5,047,483 (GRCm39)	critical splice donor site	probably null
R7303:Syne1	UTSW	10	5,206,805 (GRCm39)	missense	probably benign	0.04
R7313:Syne1	UTSW	10	4,997,635 (GRCm39)	missense	probably damaging	1.00
R7330:Syne1	UTSW	10	5,078,434 (GRCm39)	missense	probably benign	0.00
R7334:Syne1	UTSW	10	5,007,886 (GRCm39)	missense	probably damaging	1.00
R7363:Syne1	UTSW	10	5,090,970 (GRCm39)	missense	possibly damaging	0.45
R7400:Syne1	UTSW	10	5,168,580 (GRCm39)	missense	probably benign	0.12
R7425:Syne1	UTSW	10	5,375,760 (GRCm39)	missense	probably damaging	1.00
R7427:Syne1	UTSW	10	5,223,718 (GRCm39)	missense	probably damaging	0.98
R7446:Syne1	UTSW	10	5,172,266 (GRCm39)	missense	probably benign	0.00
R7462:Syne1	UTSW	10	5,002,793 (GRCm39)	missense	possibly damaging	0.87
R7502:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7525:Syne1	UTSW	10	5,135,559 (GRCm39)	critical splice acceptor site	probably null
R7529:Syne1	UTSW	10	5,374,382 (GRCm39)	missense	probably damaging	1.00
R7577:Syne1	UTSW	10	5,074,820 (GRCm39)	missense	probably damaging	1.00
R7579:Syne1	UTSW	10	5,299,324 (GRCm39)	missense	probably damaging	1.00
R7594:Syne1	UTSW	10	5,165,190 (GRCm39)	critical splice donor site	probably null
R7646:Syne1	UTSW	10	5,122,949 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,293,416 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,155,074 (GRCm39)	missense	probably benign	0.38
R7669:Syne1	UTSW	10	5,011,531 (GRCm39)	missense	probably damaging	1.00
R7672:Syne1	UTSW	10	5,168,527 (GRCm39)	missense	probably benign	0.02
R7682:Syne1	UTSW	10	5,112,461 (GRCm39)	missense	probably benign
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
R9509:Syne1	UTSW	10	5,298,927 (GRCm39)	critical splice donor site	probably null
R9546:Syne1	UTSW	10	5,193,123 (GRCm39)	missense	probably damaging	1.00
R9567:Syne1	UTSW	10	5,196,386 (GRCm39)	missense	possibly damaging	0.54
R9601:Syne1	UTSW	10	5,209,270 (GRCm39)	missense	probably benign	0.23
R9619:Syne1	UTSW	10	5,090,909 (GRCm39)	missense	probably benign	0.03
R9621:Syne1	UTSW	10	5,273,887 (GRCm39)	missense	probably benign	0.01
R9623:Syne1	UTSW	10	5,152,009 (GRCm39)	missense	probably damaging	1.00
R9646:Syne1	UTSW	10	5,179,187 (GRCm39)	missense	possibly damaging	0.95
R9666:Syne1	UTSW	10	4,984,937 (GRCm39)	missense	probably damaging	1.00
R9677:Syne1	UTSW	10	5,215,125 (GRCm39)	missense	probably damaging	1.00
R9695:Syne1	UTSW	10	5,268,461 (GRCm39)	missense	probably benign	0.03
R9696:Syne1	UTSW	10	5,297,847 (GRCm39)	missense	probably benign	0.00
R9719:Syne1	UTSW	10	5,276,601 (GRCm39)	missense	possibly damaging	0.47
R9744:Syne1	UTSW	10	5,274,184 (GRCm39)	missense	probably benign	0.01
R9761:Syne1	UTSW	10	5,318,190 (GRCm39)	critical splice donor site	probably null
R9763:Syne1	UTSW	10	5,007,858 (GRCm39)	missense	probably benign	0.31
RF010:Syne1	UTSW	10	5,196,386 (GRCm39)	missense	possibly damaging	0.89
RF015:Syne1	UTSW	10	5,252,248 (GRCm39)	missense	probably benign	0.01
RF023:Syne1	UTSW	10	5,205,482 (GRCm39)	missense	probably damaging	1.00
X0017:Syne1	UTSW	10	5,296,917 (GRCm39)	missense	probably damaging	1.00
X0025:Syne1	UTSW	10	5,308,973 (GRCm39)	nonsense	probably null
X0063:Syne1	UTSW	10	5,002,354 (GRCm39)	missense	probably damaging	1.00
Z1176:Syne1	UTSW	10	5,280,251 (GRCm39)	missense	probably benign	0.10
Z1176:Syne1	UTSW	10	5,209,280 (GRCm39)	missense	probably benign
Z1176:Syne1	UTSW	10	5,198,364 (GRCm39)	missense	probably damaging	0.96
Z1177:Syne1	UTSW	10	5,209,349 (GRCm39)	missense	probably damaging	1.00
Z1177:Syne1	UTSW	10	5,093,230 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TGGGTAGAGTTCTCTTCCAATCTAC -3'
(R):5'- CTGTGGGTGCACACTACAATC -3'

Sequencing Primer
(F):5'- CTCTTCCAATCTACTAGGAAGAGGTG -3'
(R):5'- CACTGAAGAAAAGCCAGTTTCCTTG -3'

Posted On

2022-07-18