Incidental Mutation 'IGL01538:Spata2'
ID 90063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata2
Ensembl Gene ENSMUSG00000047030
Gene Name spermatogenesis associated 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01538
Quality Score
Chromosome 2
Chromosomal Location 167323053-167334804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 167326071 bp (GRCm39)
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]
AlphaFold Q8K004
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

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

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: 70,708,032 (GRCm39) noncoding transcript Het
Abca3 G T 17: 24,595,447 (GRCm39) C328F possibly damaging Het
Aldh5a1 T C 13: 25,102,495 (GRCm39) N323D possibly damaging Het
Atp5f1c T C 2: 10,073,477 (GRCm39) Y32C probably damaging Het
Capn3 T G 2: 120,332,667 (GRCm39) probably null Het
Ccdc113 C A 8: 96,277,866 (GRCm39) D275E probably benign Het
Ccdc40 T A 11: 119,133,545 (GRCm39) F562I possibly damaging Het
Ccn6 A G 10: 39,034,306 (GRCm39) Y99H probably damaging Het
Cd96 T C 16: 45,929,490 (GRCm39) T152A possibly damaging Het
Cdh20 T A 1: 109,988,870 (GRCm39) D257E probably damaging Het
Cilp2 T C 8: 70,333,854 (GRCm39) D1048G probably benign Het
Clrn2 T G 5: 45,617,408 (GRCm39) L93R probably damaging Het
Crat C A 2: 30,299,978 (GRCm39) G134V probably damaging Het
Dis3 A T 14: 99,335,181 (GRCm39) N140K probably benign Het
Dmxl2 T A 9: 54,352,660 (GRCm39) probably benign Het
Dus1l T A 11: 120,683,905 (GRCm39) Q181L probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Gcc1 T A 6: 28,421,047 (GRCm39) H90L probably damaging Het
Gpr152 T A 19: 4,192,951 (GRCm39) V164E probably damaging Het
Grik3 A C 4: 125,587,829 (GRCm39) I650L possibly damaging Het
Gvin3 T C 7: 106,201,744 (GRCm39) D500G probably damaging Het
Gzmm A T 10: 79,530,896 (GRCm39) T233S probably benign Het
H2-Q4 T A 17: 35,602,288 (GRCm39) V341D probably benign Het
Igsf21 A G 4: 139,755,029 (GRCm39) probably benign Het
Kmt2d T C 15: 98,758,538 (GRCm39) probably benign Het
Kntc1 T G 5: 123,919,721 (GRCm39) V864G probably damaging Het
Lnx1 T C 5: 74,780,816 (GRCm39) E235G possibly damaging Het
Man2b1 G T 8: 85,824,059 (GRCm39) K985N probably benign Het
Map4k1 C A 7: 28,701,044 (GRCm39) P670Q probably damaging Het
Mapk8ip1 C A 2: 92,219,319 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,093 (GRCm39) Y178* probably null Het
Mrpl11 T A 19: 5,013,449 (GRCm39) probably null Het
Nup85 T C 11: 115,460,540 (GRCm39) S140P possibly damaging Het
Or14c44 T C 7: 86,062,167 (GRCm39) L199P possibly damaging Het
Or1j20 T C 2: 36,760,532 (GRCm39) probably benign Het
Or4k51 T A 2: 111,585,350 (GRCm39) V252E probably damaging Het
Or5w16 T C 2: 87,576,942 (GRCm39) V134A probably benign Het
Pcdhb2 T A 18: 37,428,375 (GRCm39) L116* probably null Het
Pdcd7 C A 9: 65,253,985 (GRCm39) R188S probably damaging Het
Pdk2 T C 11: 94,918,111 (GRCm39) Y374C probably damaging Het
Ppp1r12a G T 10: 108,069,882 (GRCm39) D224Y probably damaging Het
Ppp2r2d T A 7: 138,478,364 (GRCm39) Y169N probably damaging Het
Prcp A C 7: 92,559,421 (GRCm39) T162P probably benign Het
Prkd1 A G 12: 50,388,925 (GRCm39) S873P probably benign Het
Ptpn2 T C 18: 67,814,623 (GRCm39) T129A probably benign Het
Rtkn G A 6: 83,123,042 (GRCm39) R68H probably damaging Het
Sall4 C T 2: 168,597,776 (GRCm39) D355N probably damaging Het
Scn7a A G 2: 66,534,196 (GRCm39) V493A probably benign Het
Sema4b G A 7: 79,865,444 (GRCm39) A140T probably damaging Het
Shisa6 C A 11: 66,108,654 (GRCm39) G408C possibly damaging Het
Slc7a9 G T 7: 35,153,589 (GRCm39) V197F probably damaging Het
Stk36 T A 1: 74,672,797 (GRCm39) V1013E probably benign Het
Tcp10a T C 17: 7,610,899 (GRCm39) V336A probably damaging Het
Tfb2m A T 1: 179,365,409 (GRCm39) V185D possibly damaging Het
Tgm7 T A 2: 120,937,396 (GRCm39) Y76F probably benign Het
Tph1 T C 7: 46,303,177 (GRCm39) Y267C probably damaging Het
Trgv1 G A 13: 19,520,740 (GRCm39) probably benign Het
Ube2d1 A G 10: 71,091,656 (GRCm39) probably benign Het
Vmn2r12 C A 5: 109,239,716 (GRCm39) R282S probably damaging Het
Vps4a A G 8: 107,763,556 (GRCm39) D72G probably benign Het
Wipf2 T A 11: 98,781,629 (GRCm39) V56D possibly damaging Het
Zfp750 C A 11: 121,402,991 (GRCm39) V586L probably benign Het
Zfp831 A G 2: 174,486,399 (GRCm39) E358G possibly damaging Het
Other mutations in Spata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Spata2 APN 2 167,326,214 (GRCm39) missense probably damaging 0.96
IGL02661:Spata2 APN 2 167,325,281 (GRCm39) missense probably damaging 1.00
R0402:Spata2 UTSW 2 167,325,580 (GRCm39) missense probably benign
R1023:Spata2 UTSW 2 167,327,142 (GRCm39) missense probably benign
R1672:Spata2 UTSW 2 167,325,439 (GRCm39) missense probably damaging 1.00
R1989:Spata2 UTSW 2 167,326,234 (GRCm39) missense possibly damaging 0.93
R2343:Spata2 UTSW 2 167,325,280 (GRCm39) missense probably damaging 1.00
R2422:Spata2 UTSW 2 167,326,126 (GRCm39) missense probably damaging 1.00
R5156:Spata2 UTSW 2 167,325,494 (GRCm39) missense probably damaging 0.96
R5476:Spata2 UTSW 2 167,326,079 (GRCm39) missense probably damaging 0.99
R6326:Spata2 UTSW 2 167,326,094 (GRCm39) missense possibly damaging 0.47
R7038:Spata2 UTSW 2 167,327,283 (GRCm39) missense possibly damaging 0.56
R7954:Spata2 UTSW 2 167,325,857 (GRCm39) missense probably benign 0.00
R8557:Spata2 UTSW 2 167,326,227 (GRCm39) missense probably damaging 1.00
R9459:Spata2 UTSW 2 167,327,205 (GRCm39) missense probably benign 0.35
X0024:Spata2 UTSW 2 167,326,366 (GRCm39) missense possibly damaging 0.62
Z1177:Spata2 UTSW 2 167,325,503 (GRCm39) missense probably benign 0.01
Z1177:Spata2 UTSW 2 167,325,451 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03