Incidental Mutation 'IGL02496:Spats2'
ID 295849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spats2
Ensembl Gene ENSMUSG00000051934
Gene Name spermatogenesis associated, serine-rich 2
Synonyms p59, 59kDa, 2700012F11Rik, Scr59
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # IGL02496
Quality Score
Status
Chromosome 15
Chromosomal Location 99023797-99111096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99071329 bp (GRCm39)
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] [ENSMUST00000230628] [ENSMUST00000229663]
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

DomainStartEndE-ValueType
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: ENSMUST00000230628
AA Change: I51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229663
AA Change: I20N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Spats2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Spats2 APN 15 99,078,474 (GRCm39) missense possibly damaging 0.88
IGL00696:Spats2 APN 15 99,108,775 (GRCm39) missense probably damaging 1.00
IGL01524:Spats2 APN 15 99,110,127 (GRCm39) missense probably benign 0.00
IGL03031:Spats2 APN 15 99,078,569 (GRCm39) missense probably benign 0.00
R0067:Spats2 UTSW 15 99,110,168 (GRCm39) missense possibly damaging 0.64
R0067:Spats2 UTSW 15 99,110,168 (GRCm39) missense possibly damaging 0.64
R0630:Spats2 UTSW 15 99,083,909 (GRCm39) splice site probably null
R1577:Spats2 UTSW 15 99,076,333 (GRCm39) missense possibly damaging 0.94
R2012:Spats2 UTSW 15 99,076,375 (GRCm39) missense probably damaging 0.97
R2229:Spats2 UTSW 15 99,072,334 (GRCm39) critical splice donor site probably null
R2982:Spats2 UTSW 15 99,108,927 (GRCm39) missense probably benign
R3743:Spats2 UTSW 15 99,108,795 (GRCm39) missense probably benign 0.09
R4679:Spats2 UTSW 15 99,078,603 (GRCm39) missense possibly damaging 0.62
R4857:Spats2 UTSW 15 99,072,301 (GRCm39) missense probably damaging 1.00
R4962:Spats2 UTSW 15 99,110,157 (GRCm39) missense probably benign 0.00
R5291:Spats2 UTSW 15 99,076,422 (GRCm39) missense probably benign 0.16
R6879:Spats2 UTSW 15 99,071,293 (GRCm39) missense probably damaging 1.00
R7187:Spats2 UTSW 15 99,110,054 (GRCm39) missense probably benign 0.02
R7476:Spats2 UTSW 15 99,110,022 (GRCm39) missense probably benign 0.00
R8084:Spats2 UTSW 15 99,064,961 (GRCm39) missense possibly damaging 0.94
R8239:Spats2 UTSW 15 99,106,776 (GRCm39) missense probably damaging 1.00
R8338:Spats2 UTSW 15 99,076,340 (GRCm39) missense probably damaging 1.00
R8979:Spats2 UTSW 15 99,110,123 (GRCm39) missense possibly damaging 0.92
R9013:Spats2 UTSW 15 99,097,128 (GRCm39) missense probably damaging 1.00
R9050:Spats2 UTSW 15 99,110,010 (GRCm39) missense possibly damaging 0.78
R9433:Spats2 UTSW 15 99,076,446 (GRCm39) nonsense probably null
X0062:Spats2 UTSW 15 99,076,413 (GRCm39) nonsense probably null
Posted On 2015-04-16