Incidental Mutation 'IGL01538:Spata2'
ID90063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata2
Ensembl Gene ENSMUSG00000047030
Gene Namespermatogenesis associated 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01538
Quality Score
Status
Chromosome2
Chromosomal Location167481133-167492887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 167484151 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
X0024:Spata2 UTSW 2 167484446 missense possibly damaging 0.62
Posted On2013-12-03