Mutagenetix > Incidental Mutation

Incidental Mutation 'R1792:Syne1'

201838

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

039822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4970917-5501482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4990975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 8418 (G8418D)

Ref Sequence

ENSEMBL: ENSMUSP00000150262 (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: G568D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000093587
Gene: ENSMUSG00000096054
AA Change: G568D

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

noncoding transcript
Transcript: ENSMUST00000175448

Predicted Effect

probably damaging
Transcript: ENSMUST00000215295
AA Change: G8418D

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,074,870 (GRCm39)	V1398I	probably benign	Het
Ackr3	A	T	1: 90,142,620 (GRCm39)	N360Y	probably benign	Het
Acr	T	G	15: 89,457,346 (GRCm39)	M198R	probably benign	Het
Adamts14	A	T	10: 61,054,277 (GRCm39)	M585K	probably benign	Het
Adgrb3	A	T	1: 25,267,552 (GRCm39)	C853S	probably damaging	Het
Arhgef28	G	T	13: 98,067,694 (GRCm39)	S1410R	probably benign	Het
Asprv1	T	A	6: 86,605,354 (GRCm39)	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,167,214 (GRCm39)	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Ccdc57	T	C	11: 120,788,707 (GRCm39)	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,626,090 (GRCm39)	D142E	probably benign	Het
Cs	A	T	10: 128,195,948 (GRCm39)	N386Y	possibly damaging	Het
Dsc3	A	T	18: 20,120,055 (GRCm39)	V201E	probably damaging	Het
Dusp26	G	T	8: 31,581,963 (GRCm39)	R19L	probably benign	Het
Esyt3	C	A	9: 99,240,169 (GRCm39)	E92*	probably null	Het
Ext2	T	C	2: 93,534,890 (GRCm39)	N625D	probably damaging	Het
Flvcr2	A	T	12: 85,793,929 (GRCm39)	K102*	probably null	Het
Fmnl2	T	A	2: 52,932,329 (GRCm39)	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,621,859 (GRCm39)	I451F	probably benign	Het
Gak	A	T	5: 108,733,397 (GRCm39)	Y47*	probably null	Het
Gbp10	A	T	5: 105,372,166 (GRCm39)	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,755,755 (GRCm39)	S135T	unknown	Het
Gm14496	A	T	2: 181,637,946 (GRCm39)	D340V	probably benign	Het
Grin2a	T	C	16: 9,810,259 (GRCm39)	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,395,790 (GRCm39)		probably null	Het
Herc4	T	A	10: 63,081,680 (GRCm39)	M1K	probably null	Het
Hirip3	T	A	7: 126,461,792 (GRCm39)	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,708,720 (GRCm39)	D85G	probably benign	Het
Htt	T	A	5: 35,064,543 (GRCm39)	S2981T	probably damaging	Het
Iho1	A	C	9: 108,282,111 (GRCm39)	S526A	possibly damaging	Het
Il20ra	G	A	10: 19,635,384 (GRCm39)	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,226,282 (GRCm39)	C603F	probably damaging	Het
Klhl41	A	C	2: 69,501,146 (GRCm39)	K202N	probably benign	Het
Lct	G	A	1: 128,255,679 (GRCm39)	S121F	possibly damaging	Het
Lhx6	C	T	2: 35,977,387 (GRCm39)	G355D	probably damaging	Het
Limk2	A	G	11: 3,308,236 (GRCm39)	V121A	probably benign	Het
Med1	T	G	11: 98,048,109 (GRCm39)	K896Q	probably damaging	Het
Muc6	A	G	7: 141,214,371 (GRCm39)	F2789S	probably benign	Het
Nemf	T	A	12: 69,359,343 (GRCm39)	Y997F	probably damaging	Het
Nrap	A	G	19: 56,367,590 (GRCm39)	S296P	probably benign	Het
Nrxn1	T	C	17: 90,896,252 (GRCm39)	N961D	probably damaging	Het
Odad2	T	C	18: 7,286,743 (GRCm39)	T163A	probably benign	Het
Or1r1	A	C	11: 73,874,673 (GRCm39)	S254A	probably benign	Het
Or6c207	A	T	10: 129,105,112 (GRCm39)	F27I	probably benign	Het
Or6y1	T	C	1: 174,276,303 (GRCm39)	V38A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166 (GRCm39)	H247L	probably damaging	Het
Pkd1l3	T	A	8: 110,359,237 (GRCm39)	V866E	probably damaging	Het
Pla2g4e	G	A	2: 119,998,955 (GRCm39)	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968 (GRCm39)	V217A	possibly damaging	Het
Pole4	G	A	6: 82,629,720 (GRCm39)	P34L	unknown	Het
Pole4	G	T	6: 82,629,721 (GRCm39)	P34T	unknown	Het
Ptchd3	G	A	11: 121,732,377 (GRCm39)	W422*	probably null	Het
Rab1b	C	T	19: 5,150,513 (GRCm39)	A167T	probably benign	Het
Rasal1	T	C	5: 120,802,821 (GRCm39)	M359T	probably benign	Het
Rexo4	T	C	2: 26,850,248 (GRCm39)	N310D	probably benign	Het
Rgma	C	T	7: 73,067,585 (GRCm39)	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,364,408 (GRCm39)	I43N	probably damaging	Het
Rtcb	A	T	10: 85,778,446 (GRCm39)	V399E	probably damaging	Het
Scd4	T	G	19: 44,326,013 (GRCm39)	Y122*	probably null	Het
Sirt6	T	C	10: 81,462,355 (GRCm39)	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,415,526 (GRCm39)	V104E	possibly damaging	Het
Slc12a4	A	G	8: 106,678,475 (GRCm39)	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104 (GRCm39)	A207V	possibly damaging	Het
Slc6a21	T	C	7: 44,930,155 (GRCm39)	S185P	probably benign	Het
Smarcc2	A	C	10: 128,299,740 (GRCm39)	N135T	probably damaging	Het
Susd6	T	C	12: 80,921,065 (GRCm39)	S221P	probably damaging	Het
Tasor2	T	C	13: 3,640,559 (GRCm39)	K193E	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,853 (GRCm39)	V95I	probably benign	Het
Tcerg1l	T	C	7: 137,963,595 (GRCm39)	D225G	probably benign	Het
Tfip11	A	T	5: 112,477,263 (GRCm39)	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,755,731 (GRCm39)	G192S	probably null	Het
Trrap	G	A	5: 144,790,396 (GRCm39)	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,656,707 (GRCm39)		probably null	Het
Wfdc21	T	C	11: 83,637,883 (GRCm39)	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,044,474 (GRCm39)	V63E	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
R2076:Syne1	UTSW	10	4,990,897 (GRCm39)	missense	probably damaging	0.99
R2079:Syne1	UTSW	10	5,311,502 (GRCm39)	missense	probably benign	0.01
R2102:Syne1	UTSW	10	5,006,514 (GRCm39)	missense	probably damaging	1.00
R2233:Syne1	UTSW	10	4,991,484 (GRCm39)	missense	probably benign	0.01
R2305:Syne1	UTSW	10	4,997,573 (GRCm39)	missense	probably damaging	0.97
R3435:Syne1	UTSW	10	5,298,565 (GRCm39)	missense	probably damaging	1.00
R3749:Syne1	UTSW	10	5,002,267 (GRCm39)	splice site	probably benign
R3876:Syne1	UTSW	10	5,002,345 (GRCm39)	missense	possibly damaging	0.57
R3895:Syne1	UTSW	10	5,355,456 (GRCm39)	missense	probably damaging	0.98
R3974:Syne1	UTSW	10	4,993,630 (GRCm39)	missense	probably benign	0.06
R4042:Syne1	UTSW	10	4,991,584 (GRCm39)	missense	probably benign	0.21
R4120:Syne1	UTSW	10	5,359,798 (GRCm39)	missense	probably damaging	1.00
R4201:Syne1	UTSW	10	5,297,870 (GRCm39)	missense	probably benign
R4364:Syne1	UTSW	10	5,303,987 (GRCm39)	missense	probably damaging	0.96
R4498:Syne1	UTSW	10	4,981,768 (GRCm39)	missense	probably benign	0.00
R4767:Syne1	UTSW	10	5,294,866 (GRCm39)	nonsense	probably null
R4804:Syne1	UTSW	10	5,299,310 (GRCm39)	missense	possibly damaging	0.95
R4917:Syne1	UTSW	10	5,007,909 (GRCm39)	missense	probably damaging	1.00
R4930:Syne1	UTSW	10	5,002,777 (GRCm39)	missense	probably damaging	0.99
R5081:Syne1	UTSW	10	4,997,767 (GRCm39)	missense	probably benign	0.04
R5089:Syne1	UTSW	10	5,355,444 (GRCm39)	nonsense	probably null
R5174:Syne1	UTSW	10	4,991,490 (GRCm39)	missense	probably damaging	0.99
R5205:Syne1	UTSW	10	5,002,295 (GRCm39)	missense	probably benign	0.05
R5303:Syne1	UTSW	10	5,370,464 (GRCm39)	missense	probably benign	0.00
R5384:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5385:Syne1	UTSW	10	4,991,494 (GRCm39)	missense	probably benign	0.00
R5392:Syne1	UTSW	10	5,298,661 (GRCm39)	missense	probably damaging	1.00
R5442:Syne1	UTSW	10	5,293,473 (GRCm39)	missense	probably benign	0.09
R5750:Syne1	UTSW	10	5,289,209 (GRCm39)	missense	probably benign	0.01
R5935:Syne1	UTSW	10	5,310,706 (GRCm39)	splice site	probably null
R6015:Syne1	UTSW	10	5,296,819 (GRCm39)	critical splice donor site	probably null
R6023:Syne1	UTSW	10	5,393,223 (GRCm39)	missense	probably benign	0.09
R6049:Syne1	UTSW	10	5,297,926 (GRCm39)	missense	possibly damaging	0.79
R6084:Syne1	UTSW	10	5,298,994 (GRCm39)	missense	probably damaging	1.00
R6145:Syne1	UTSW	10	5,002,750 (GRCm39)	missense	probably damaging	1.00
R6164:Syne1	UTSW	10	5,011,429 (GRCm39)	missense	probably damaging	1.00
R6165:Syne1	UTSW	10	5,375,678 (GRCm39)	missense	probably damaging	1.00
R6198:Syne1	UTSW	10	5,252,269 (GRCm39)	missense	probably damaging	0.99
R6217:Syne1	UTSW	10	5,243,761 (GRCm39)	missense	probably benign	0.00
R6247:Syne1	UTSW	10	5,299,071 (GRCm39)	missense	probably damaging	0.98
R6271:Syne1	UTSW	10	5,184,652 (GRCm39)	missense	probably damaging	1.00
R6338:Syne1	UTSW	10	5,205,475 (GRCm39)	missense	probably benign	0.00
R6344:Syne1	UTSW	10	4,972,212 (GRCm39)	missense	probably benign	0.08
R6434:Syne1	UTSW	10	5,268,422 (GRCm39)	missense	probably benign	0.01
R6476:Syne1	UTSW	10	5,104,531 (GRCm39)	missense	possibly damaging	0.88
R6479:Syne1	UTSW	10	5,406,826 (GRCm39)	missense	probably damaging	1.00
R6479:Syne1	UTSW	10	5,181,679 (GRCm39)	nonsense	probably null
R6546:Syne1	UTSW	10	5,168,645 (GRCm39)	nonsense	probably null
R6578:Syne1	UTSW	10	5,355,454 (GRCm39)	nonsense	probably null
R6611:Syne1	UTSW	10	4,995,273 (GRCm39)	missense	probably benign	0.01
R6615:Syne1	UTSW	10	5,251,340 (GRCm39)	missense	probably damaging	0.98
R6632:Syne1	UTSW	10	5,165,667 (GRCm39)	critical splice donor site	probably null
R6662:Syne1	UTSW	10	5,078,416 (GRCm39)	missense	probably damaging	1.00
R6677:Syne1	UTSW	10	4,990,942 (GRCm39)	missense	possibly damaging	0.82
R6764:Syne1	UTSW	10	5,179,011 (GRCm39)	nonsense	probably null
R6765:Syne1	UTSW	10	5,093,285 (GRCm39)	splice site	probably null
R6778:Syne1	UTSW	10	5,052,406 (GRCm39)	missense	probably damaging	0.97
R6851:Syne1	UTSW	10	5,212,703 (GRCm39)	nonsense	probably null
R6878:Syne1	UTSW	10	5,370,388 (GRCm39)	missense	possibly damaging	0.78
R6883:Syne1	UTSW	10	5,181,704 (GRCm39)	nonsense	probably null
R6910:Syne1	UTSW	10	4,998,887 (GRCm39)	missense	probably benign	0.01
R6916:Syne1	UTSW	10	5,177,912 (GRCm39)	missense	probably benign	0.00
R6925:Syne1	UTSW	10	5,076,682 (GRCm39)	missense	probably benign	0.00
R6943:Syne1	UTSW	10	5,033,940 (GRCm39)	missense	probably benign
R6947:Syne1	UTSW	10	5,125,789 (GRCm39)	missense	probably damaging	1.00
R6965:Syne1	UTSW	10	5,179,120 (GRCm39)	missense	possibly damaging	0.66
R6968:Syne1	UTSW	10	5,067,041 (GRCm39)	missense	probably benign	0.09
R7043:Syne1	UTSW	10	5,022,193 (GRCm39)	missense	possibly damaging	0.77
R7059:Syne1	UTSW	10	5,296,859 (GRCm39)	missense	probably damaging	1.00
R7067:Syne1	UTSW	10	5,184,586 (GRCm39)	missense	probably damaging	1.00
R7087:Syne1	UTSW	10	5,492,024 (GRCm39)	start gained	probably benign
R7099:Syne1	UTSW	10	5,073,744 (GRCm39)	missense	probably benign	0.43
R7107:Syne1	UTSW	10	5,082,078 (GRCm39)	missense	probably damaging	1.00
R7120:Syne1	UTSW	10	5,243,971 (GRCm39)	missense	probably benign
R7127:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7128:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7131:Syne1	UTSW	10	5,178,221 (GRCm39)	missense	probably damaging	1.00
R7132:Syne1	UTSW	10	5,193,180 (GRCm39)	missense	probably damaging	1.00
R7133:Syne1	UTSW	10	5,181,592 (GRCm39)	missense	probably damaging	1.00
R7135:Syne1	UTSW	10	5,183,409 (GRCm39)	missense	probably benign	0.01
R7147:Syne1	UTSW	10	5,199,340 (GRCm39)	missense	probably damaging	1.00
R7158:Syne1	UTSW	10	5,007,931 (GRCm39)	missense	probably damaging	1.00
R7189:Syne1	UTSW	10	5,374,295 (GRCm39)	missense	probably benign	0.03
R7193:Syne1	UTSW	10	5,183,406 (GRCm39)	missense	probably damaging	1.00
R7194:Syne1	UTSW	10	5,060,859 (GRCm39)	missense	probably damaging	1.00
R7233:Syne1	UTSW	10	5,252,160 (GRCm39)	missense	probably damaging	1.00
R7255:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7267:Syne1	UTSW	10	5,178,218 (GRCm39)	missense	probably damaging	1.00
R7294:Syne1	UTSW	10	5,047,483 (GRCm39)	critical splice donor site	probably null
R7303:Syne1	UTSW	10	5,206,805 (GRCm39)	missense	probably benign	0.04
R7313:Syne1	UTSW	10	4,997,635 (GRCm39)	missense	probably damaging	1.00
R7330:Syne1	UTSW	10	5,078,434 (GRCm39)	missense	probably benign	0.00
R7334:Syne1	UTSW	10	5,007,886 (GRCm39)	missense	probably damaging	1.00
R7363:Syne1	UTSW	10	5,090,970 (GRCm39)	missense	possibly damaging	0.45
R7400:Syne1	UTSW	10	5,168,580 (GRCm39)	missense	probably benign	0.12
R7425:Syne1	UTSW	10	5,375,760 (GRCm39)	missense	probably damaging	1.00
R7427:Syne1	UTSW	10	5,223,718 (GRCm39)	missense	probably damaging	0.98
R7446:Syne1	UTSW	10	5,172,266 (GRCm39)	missense	probably benign	0.00
R7462:Syne1	UTSW	10	5,002,793 (GRCm39)	missense	possibly damaging	0.87
R7502:Syne1	UTSW	10	5,283,446 (GRCm39)	missense	probably damaging	0.98
R7525:Syne1	UTSW	10	5,135,559 (GRCm39)	critical splice acceptor site	probably null
R7529:Syne1	UTSW	10	5,374,382 (GRCm39)	missense	probably damaging	1.00
R7577:Syne1	UTSW	10	5,074,820 (GRCm39)	missense	probably damaging	1.00
R7579:Syne1	UTSW	10	5,299,324 (GRCm39)	missense	probably damaging	1.00
R7594:Syne1	UTSW	10	5,165,190 (GRCm39)	critical splice donor site	probably null
R7646:Syne1	UTSW	10	5,122,949 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,293,416 (GRCm39)	missense	probably damaging	1.00
R7651:Syne1	UTSW	10	5,155,074 (GRCm39)	missense	probably benign	0.38
R7669:Syne1	UTSW	10	5,011,531 (GRCm39)	missense	probably damaging	1.00
R7672:Syne1	UTSW	10	5,168,527 (GRCm39)	missense	probably benign	0.02
R7682:Syne1	UTSW	10	5,112,461 (GRCm39)	missense	probably benign
R7702:Syne1	UTSW	10	5,195,835 (GRCm39)	missense	probably damaging	1.00
R7767:Syne1	UTSW	10	5,283,632 (GRCm39)	missense	possibly damaging	0.49
R7767:Syne1	UTSW	10	5,283,560 (GRCm39)	missense	possibly damaging	0.60
R7829:Syne1	UTSW	10	5,292,293 (GRCm39)	missense	probably damaging	0.96
R7840:Syne1	UTSW	10	5,082,078 (GRCm39)	missense	probably damaging	1.00
R7859:Syne1	UTSW	10	5,107,683 (GRCm39)	missense	possibly damaging	0.80
R7899:Syne1	UTSW	10	5,177,956 (GRCm39)	nonsense	probably null
R7918:Syne1	UTSW	10	5,309,078 (GRCm39)	missense	possibly damaging	0.50
R7923:Syne1	UTSW	10	5,214,738 (GRCm39)	missense	probably damaging	1.00
R7946:Syne1	UTSW	10	5,200,919 (GRCm39)	missense	possibly damaging	0.92
R7966:Syne1	UTSW	10	5,066,965 (GRCm39)	critical splice donor site	probably null
R7975:Syne1	UTSW	10	4,981,786 (GRCm39)	missense	probably benign	0.00
R7981:Syne1	UTSW	10	5,179,248 (GRCm39)	missense	probably benign	0.04
R8053:Syne1	UTSW	10	5,002,658 (GRCm39)	nonsense	probably null
R8054:Syne1	UTSW	10	5,220,970 (GRCm39)	missense	probably benign	0.22
R8062:Syne1	UTSW	10	5,135,394 (GRCm39)	critical splice donor site	probably null
R8085:Syne1	UTSW	10	5,178,021 (GRCm39)	missense	possibly damaging	0.78
R8087:Syne1	UTSW	10	5,283,034 (GRCm39)	missense	probably benign
R8094:Syne1	UTSW	10	5,067,031 (GRCm39)	missense	probably damaging	0.98
R8310:Syne1	UTSW	10	5,297,829 (GRCm39)	missense	probably benign
R8325:Syne1	UTSW	10	5,096,257 (GRCm39)	missense	probably benign	0.15
R8342:Syne1	UTSW	10	5,058,622 (GRCm39)	missense	probably benign	0.18
R8353:Syne1	UTSW	10	5,300,983 (GRCm39)	missense	probably damaging	1.00
R8376:Syne1	UTSW	10	4,993,615 (GRCm39)	missense	probably benign	0.09
R8398:Syne1	UTSW	10	5,074,923 (GRCm39)	missense	probably damaging	1.00
R8434:Syne1	UTSW	10	5,073,057 (GRCm39)	missense	probably benign	0.00
R8436:Syne1	UTSW	10	5,178,659 (GRCm39)	missense	probably benign	0.26
R8459:Syne1	UTSW	10	5,374,277 (GRCm39)	nonsense	probably null
R8461:Syne1	UTSW	10	5,011,463 (GRCm39)	missense	probably benign	0.34
R8496:Syne1	UTSW	10	5,268,441 (GRCm39)	missense	probably damaging	0.99
R8496:Syne1	UTSW	10	5,178,896 (GRCm39)	missense	probably damaging	0.99
R8693:Syne1	UTSW	10	5,090,928 (GRCm39)	missense	possibly damaging	0.60
R8698:Syne1	UTSW	10	5,179,229 (GRCm39)	missense	probably damaging	1.00
R8701:Syne1	UTSW	10	5,155,026 (GRCm39)	nonsense	probably null
R8713:Syne1	UTSW	10	5,266,040 (GRCm39)	missense	probably damaging	1.00
R8724:Syne1	UTSW	10	5,033,861 (GRCm39)	missense	possibly damaging	0.77
R8729:Syne1	UTSW	10	5,179,275 (GRCm39)	missense	probably benign	0.00
R8742:Syne1	UTSW	10	5,058,661 (GRCm39)	missense	probably benign	0.09
R8757:Syne1	UTSW	10	5,144,618 (GRCm39)	missense	probably damaging	1.00
R8776:Syne1	UTSW	10	5,181,783 (GRCm39)	missense	possibly damaging	0.81
R8776-TAIL:Syne1	UTSW	10	5,181,783 (GRCm39)	missense	possibly damaging	0.81
R8778:Syne1	UTSW	10	5,309,066 (GRCm39)	missense	probably benign	0.00
R8801:Syne1	UTSW	10	5,308,335 (GRCm39)	missense	probably damaging	1.00
R8803:Syne1	UTSW	10	5,311,535 (GRCm39)	missense	probably damaging	1.00
R8808:Syne1	UTSW	10	5,309,074 (GRCm39)	missense	probably damaging	1.00
R8829:Syne1	UTSW	10	5,058,685 (GRCm39)	missense	probably benign
R8843:Syne1	UTSW	10	5,143,040 (GRCm39)	missense	possibly damaging	0.88
R8843:Syne1	UTSW	10	5,280,204 (GRCm39)	missense	probably benign	0.01
R8854:Syne1	UTSW	10	5,078,503 (GRCm39)	missense	probably benign	0.00
R8863:Syne1	UTSW	10	5,049,527 (GRCm39)	missense	probably damaging	1.00
R8864:Syne1	UTSW	10	5,370,473 (GRCm39)	missense	probably benign	0.01
R8881:Syne1	UTSW	10	5,223,639 (GRCm39)	missense	probably damaging	1.00
R8884:Syne1	UTSW	10	5,181,822 (GRCm39)	missense	possibly damaging	0.93
R8893:Syne1	UTSW	10	5,299,020 (GRCm39)	nonsense	probably null
R8958:Syne1	UTSW	10	5,181,768 (GRCm39)	missense	probably benign
R8964:Syne1	UTSW	10	5,060,872 (GRCm39)	missense
R8975:Syne1	UTSW	10	5,161,945 (GRCm39)	missense	probably benign	0.04
R8987:Syne1	UTSW	10	5,177,579 (GRCm39)	missense	possibly damaging	0.92
R8992:Syne1	UTSW	10	5,135,508 (GRCm39)	missense	probably benign	0.01
R9005:Syne1	UTSW	10	5,155,406 (GRCm39)	missense	probably benign
R9084:Syne1	UTSW	10	5,289,240 (GRCm39)	missense	probably benign	0.01
R9117:Syne1	UTSW	10	5,053,667 (GRCm39)	missense	probably damaging	0.96
R9128:Syne1	UTSW	10	5,058,556 (GRCm39)	missense	probably benign	0.38
R9181:Syne1	UTSW	10	5,063,994 (GRCm39)	missense	probably damaging	0.99
R9189:Syne1	UTSW	10	5,172,289 (GRCm39)	missense	probably benign	0.00
R9189:Syne1	UTSW	10	5,123,008 (GRCm39)	missense	probably damaging	1.00
R9205:Syne1	UTSW	10	5,152,013 (GRCm39)	nonsense	probably null
R9217:Syne1	UTSW	10	5,299,324 (GRCm39)	missense	probably damaging	1.00
R9246:Syne1	UTSW	10	5,255,706 (GRCm39)	missense	probably benign	0.00
R9264:Syne1	UTSW	10	5,212,793 (GRCm39)	missense	probably damaging	1.00
R9273:Syne1	UTSW	10	4,990,901 (GRCm39)	missense	probably benign	0.16
R9315:Syne1	UTSW	10	5,283,553 (GRCm39)	missense	possibly damaging	0.79
R9331:Syne1	UTSW	10	5,073,666 (GRCm39)	missense	probably benign	0.45
R9355:Syne1	UTSW	10	5,318,255 (GRCm39)	missense	probably damaging	1.00
R9378:Syne1	UTSW	10	5,200,954 (GRCm39)	missense	probably damaging	0.96
R9389:Syne1	UTSW	10	5,179,193 (GRCm39)	missense	possibly damaging	0.65
R9395:Syne1	UTSW	10	5,261,728 (GRCm39)	missense	probably damaging	1.00
R9405:Syne1	UTSW	10	5,152,030 (GRCm39)	missense	probably damaging	1.00
R9417:Syne1	UTSW	10	5,082,021 (GRCm39)	missense	probably benign
R9419:Syne1	UTSW	10	5,155,071 (GRCm39)	missense	probably benign	0.01
R9473:Syne1	UTSW	10	5,198,258 (GRCm39)	missense	probably benign	0.00
R9484:Syne1	UTSW	10	5,170,359 (GRCm39)	missense	probably damaging	1.00
R9505:Syne1	UTSW	10	4,980,394 (GRCm39)	missense	probably benign	0.00
R9509:Syne1	UTSW	10	5,298,927 (GRCm39)	critical splice donor site	probably null
R9546:Syne1	UTSW	10	5,193,123 (GRCm39)	missense	probably damaging	1.00
R9567:Syne1	UTSW	10	5,196,386 (GRCm39)	missense	possibly damaging	0.54
R9601:Syne1	UTSW	10	5,209,270 (GRCm39)	missense	probably benign	0.23
R9619:Syne1	UTSW	10	5,090,909 (GRCm39)	missense	probably benign	0.03
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'- TGACCTAGGTCTTCTGGCTG -3'
(R):5'- GCTTTCCACCATTGTCATTGGAG -3'

Sequencing Primer
(F):5'- TCTTCTGGCTGCCGAGGAAG -3'
(R):5'- TCCACCATTGTCATTGGAGAAAGC -3'

Posted On

2014-06-23