Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01538:Spata2'

90063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata2

Ensembl Gene

ENSMUSG00000047030

Gene Name

spermatogenesis associated 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

167481133-167492887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 167484151 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 249 (D249E)

Ref Sequence

ENSEMBL: ENSMUSP00000104834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057627] [ENSMUST00000109211]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057627
AA Change: D249E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: D249E

Domain	Start	End	E-Value	Type
low complexity region	66	79	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109211
AA Change: D249E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: D249E

Domain	Start	End	E-Value	Type
low complexity region	66	79	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155875

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to small testes, oligospermia, asthenozoospermia, reduced male fertility and decreased male germ cell numbers. It also affects necroptosis and increases inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,872,202		noncoding transcript	Het
Abca3	G	T	17: 24,376,473	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 24,918,512	N323D	possibly damaging	Het
Atp5c1	T	C	2: 10,068,666	Y32C	probably damaging	Het
Capn3	T	G	2: 120,502,186		probably null	Het
Ccdc113	C	A	8: 95,551,238	D275E	probably benign	Het
Ccdc40	T	A	11: 119,242,719	F562I	possibly damaging	Het
Cd96	T	C	16: 46,109,127	T152A	possibly damaging	Het
Cdh7	T	A	1: 110,061,140	D257E	probably damaging	Het
Cilp2	T	C	8: 69,881,204	D1048G	probably benign	Het
Clrn2	T	G	5: 45,460,066	L93R	probably damaging	Het
Crat	C	A	2: 30,409,966	G134V	probably damaging	Het
Dis3	A	T	14: 99,097,745	N140K	probably benign	Het
Dmxl2	T	A	9: 54,445,376		probably benign	Het
Dus1l	T	A	11: 120,793,079	Q181L	probably damaging	Het
Ece1	A	G	4: 137,948,544	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,048	H90L	probably damaging	Het
Gm16602	G	A	13: 19,336,570		probably benign	Het
Gm1966	T	C	7: 106,602,537	D500G	probably damaging	Het
Gpr152	T	A	19: 4,142,952	V164E	probably damaging	Het
Grik3	A	C	4: 125,694,036	I650L	possibly damaging	Het
Gzmm	A	T	10: 79,695,062	T233S	probably benign	Het
H2-Q4	T	A	17: 35,383,312	V341D	probably benign	Het
Igsf21	A	G	4: 140,027,718		probably benign	Het
Kmt2d	T	C	15: 98,860,657		probably benign	Het
Kntc1	T	G	5: 123,781,658	V864G	probably damaging	Het
Lnx1	T	C	5: 74,620,155	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,097,430	K985N	probably benign	Het
Map4k1	C	A	7: 29,001,619	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,388,974		probably null	Het
Mettl16	T	A	11: 74,792,267	Y178*	probably null	Het
Mrpl11	T	A	19: 4,963,421		probably null	Het
Nup85	T	C	11: 115,569,714	S140P	possibly damaging	Het
Olfr1140	T	C	2: 87,746,598	V134A	probably benign	Het
Olfr1301	T	A	2: 111,755,005	V252E	probably damaging	Het
Olfr301	T	C	7: 86,412,959	L199P	possibly damaging	Het
Olfr352	T	C	2: 36,870,520		probably benign	Het
Pcdhb2	T	A	18: 37,295,322	L116*	probably null	Het
Pdcd7	C	A	9: 65,346,703	R188S	probably damaging	Het
Pdk2	T	C	11: 95,027,285	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,234,021	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,876,635	Y169N	probably damaging	Het
Prcp	A	C	7: 92,910,213	T162P	probably benign	Het
Prkd1	A	G	12: 50,342,142	S873P	probably benign	Het
Ptpn2	T	C	18: 67,681,553	T129A	probably benign	Het
Rtkn	G	A	6: 83,146,061	R68H	probably damaging	Het
Sall4	C	T	2: 168,755,856	D355N	probably damaging	Het
Scn7a	A	G	2: 66,703,852	V493A	probably benign	Het
Sema4b	G	A	7: 80,215,696	A140T	probably damaging	Het
Shisa6	C	A	11: 66,217,828	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,454,164	V197F	probably damaging	Het
Stk36	T	A	1: 74,633,638	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,343,500	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,537,844	V185D	possibly damaging	Het
Tgm7	T	A	2: 121,106,915	Y76F	probably benign	Het
Tph1	T	C	7: 46,653,753	Y267C	probably damaging	Het
Ube2d1	A	G	10: 71,255,826		probably benign	Het
Vmn2r12	C	A	5: 109,091,850	R282S	probably damaging	Het
Vps4a	A	G	8: 107,036,924	D72G	probably benign	Het
Wipf2	T	A	11: 98,890,803	V56D	possibly damaging	Het
Wisp3	A	G	10: 39,158,310	Y99H	probably damaging	Het
Zfp750	C	A	11: 121,512,165	V586L	probably benign	Het
Zfp831	A	G	2: 174,644,606	E358G	possibly damaging	Het

Other mutations in Spata2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:Spata2	APN	2	167484294	missense	probably damaging	0.96
IGL02661:Spata2	APN	2	167483361	missense	probably damaging	1.00
R0402:Spata2	UTSW	2	167483660	missense	probably benign
R1023:Spata2	UTSW	2	167485222	missense	probably benign
R1672:Spata2	UTSW	2	167483519	missense	probably damaging	1.00
R1989:Spata2	UTSW	2	167484314	missense	possibly damaging	0.93
R2343:Spata2	UTSW	2	167483360	missense	probably damaging	1.00
R2422:Spata2	UTSW	2	167484206	missense	probably damaging	1.00
R5156:Spata2	UTSW	2	167483574	missense	probably damaging	0.96
R5476:Spata2	UTSW	2	167484159	missense	probably damaging	0.99
R6326:Spata2	UTSW	2	167484174	missense	possibly damaging	0.47
R7038:Spata2	UTSW	2	167485363	missense	possibly damaging	0.56
R7954:Spata2	UTSW	2	167483937	missense	probably benign	0.00
R8557:Spata2	UTSW	2	167484307	missense	probably damaging	1.00
X0024:Spata2	UTSW	2	167484446	missense	possibly damaging	0.62
Z1177:Spata2	UTSW	2	167483531	missense	probably damaging	1.00
Z1177:Spata2	UTSW	2	167483583	missense	probably benign	0.01

Posted On

2013-12-03