Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02496:Spats2'

295849

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spats2

Ensembl Gene

ENSMUSG00000051934

Gene Name

spermatogenesis associated, serine-rich 2

Synonyms

Scr59, 59kDa, 2700012F11Rik, p59

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

99125916-99213215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99173448 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 51 (I51N)

Ref Sequence

ENSEMBL: ENSMUSP00000155049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063517] [ENSMUST00000229066] [ENSMUST00000229073] [ENSMUST00000229147] [ENSMUST00000229663] [ENSMUST00000230628]

AlphaFold

Q8K1N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063517
AA Change: I51N

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

SMART Domains

Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: I51N

Domain	Start	End	E-Value	Type
Pfam:DUF1387	81	385	8.1e-125	PFAM
low complexity region	391	413	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157366

Predicted Effect

probably damaging
Transcript: ENSMUST00000229066
AA Change: I20N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229073
AA Change: I20N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229147
AA Change: I51N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229493

Predicted Effect

probably damaging
Transcript: ENSMUST00000229663
AA Change: I20N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230628
AA Change: I51N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Spats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Spats2	APN	15	99180593	missense	possibly damaging	0.88
IGL00696:Spats2	APN	15	99210894	missense	probably damaging	1.00
IGL01524:Spats2	APN	15	99212246	missense	probably benign	0.00
IGL03031:Spats2	APN	15	99180688	missense	probably benign	0.00
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0630:Spats2	UTSW	15	99186028	splice site	probably null
R1577:Spats2	UTSW	15	99178452	missense	possibly damaging	0.94
R2012:Spats2	UTSW	15	99178494	missense	probably damaging	0.97
R2229:Spats2	UTSW	15	99174453	critical splice donor site	probably null
R2982:Spats2	UTSW	15	99211046	missense	probably benign
R3743:Spats2	UTSW	15	99210914	missense	probably benign	0.09
R4679:Spats2	UTSW	15	99180722	missense	possibly damaging	0.62
R4857:Spats2	UTSW	15	99174420	missense	probably damaging	1.00
R4962:Spats2	UTSW	15	99212276	missense	probably benign	0.00
R5291:Spats2	UTSW	15	99178541	missense	probably benign	0.16
R6879:Spats2	UTSW	15	99173412	missense	probably damaging	1.00
R7187:Spats2	UTSW	15	99212173	missense	probably benign	0.02
R7476:Spats2	UTSW	15	99212141	missense	probably benign	0.00
R8084:Spats2	UTSW	15	99167080	missense	possibly damaging	0.94
R8239:Spats2	UTSW	15	99208895	missense	probably damaging	1.00
R8338:Spats2	UTSW	15	99178459	missense	probably damaging	1.00
R8979:Spats2	UTSW	15	99212242	missense	possibly damaging	0.92
R9013:Spats2	UTSW	15	99199247	missense	probably damaging	1.00
R9050:Spats2	UTSW	15	99212129	missense	possibly damaging	0.78
X0062:Spats2	UTSW	15	99178532	nonsense	probably null

Posted On

2015-04-16