Incidental Mutation 'IGL03188:Spata31g1'
ID 412520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31g1
Ensembl Gene ENSMUSG00000028451
Gene Name SPATA31 subfamily G member 1
Synonyms 1700022I11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03188
Quality Score
Status
Chromosome 4
Chromosomal Location 42969946-42974325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42971225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 186 (Y186C)
Ref Sequence ENSEMBL: ENSMUSP00000030163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030163] [ENSMUST00000139127] [ENSMUST00000185904] [ENSMUST00000190902]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030163
AA Change: Y186C

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: Y186C

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
low complexity region 85 93 N/A INTRINSIC
low complexity region 253 269 N/A INTRINSIC
internal_repeat_1 322 432 6.53e-5 PROSPERO
low complexity region 434 449 N/A INTRINSIC
low complexity region 507 521 N/A INTRINSIC
low complexity region 599 610 N/A INTRINSIC
internal_repeat_1 622 738 6.53e-5 PROSPERO
low complexity region 847 861 N/A INTRINSIC
low complexity region 897 908 N/A INTRINSIC
low complexity region 914 925 N/A INTRINSIC
low complexity region 944 958 N/A INTRINSIC
low complexity region 990 1001 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139127
SMART Domains Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185904
AA Change: Y126C

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
AA Change: Y126C

DomainStartEndE-ValueType
low complexity region 25 33 N/A INTRINSIC
Pfam:FAM75 99 149 2e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189414
Predicted Effect probably benign
Transcript: ENSMUST00000190902
AA Change: Y150C

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
AA Change: Y150C

DomainStartEndE-ValueType
low complexity region 49 57 N/A INTRINSIC
low complexity region 217 233 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,425,656 (GRCm39) C1202F probably damaging Het
Ago2 C T 15: 72,995,182 (GRCm39) V466I probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aptx A T 4: 40,695,143 (GRCm39) probably null Het
Aurka A T 2: 172,205,688 (GRCm39) D123E possibly damaging Het
Btaf1 T C 19: 36,926,508 (GRCm39) I60T possibly damaging Het
Ccdc154 A T 17: 25,383,067 (GRCm39) probably null Het
Cct5 T C 15: 31,598,148 (GRCm39) N55S probably benign Het
Cntnap3 A G 13: 64,929,559 (GRCm39) S547P probably damaging Het
Efl1 T A 7: 82,320,909 (GRCm39) I114N probably damaging Het
Gprin1 T C 13: 54,886,465 (GRCm39) D603G probably benign Het
Il16 A G 7: 83,337,371 (GRCm39) S115P probably benign Het
Kalrn C A 16: 34,134,562 (GRCm39) V401L probably benign Het
Kcnq4 T A 4: 120,561,623 (GRCm39) K482I possibly damaging Het
L3mbtl3 C T 10: 26,218,515 (GRCm39) A114T unknown Het
Lig1 G A 7: 13,045,032 (GRCm39) probably benign Het
Lnx1 G A 5: 74,780,924 (GRCm39) T199M probably damaging Het
Mapk13 A G 17: 28,995,557 (GRCm39) probably benign Het
Mfsd2b A T 12: 4,916,538 (GRCm39) probably null Het
Mrpl3 A G 9: 104,934,264 (GRCm39) D137G probably benign Het
Muc15 A G 2: 110,562,044 (GRCm39) D160G probably benign Het
Myh4 T C 11: 67,137,369 (GRCm39) probably null Het
Nipa2 T G 7: 55,582,680 (GRCm39) N355T probably benign Het
Or11h4 A T 14: 50,974,315 (GRCm39) Y101* probably null Het
Or2v2 T C 11: 49,004,536 (GRCm39) N6D probably damaging Het
Or51a43 A G 7: 103,717,945 (GRCm39) S98P possibly damaging Het
Or5p60 T C 7: 107,723,841 (GRCm39) T210A probably benign Het
Pfkm G T 15: 98,021,124 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,157,327 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,857 (GRCm39) D244G possibly damaging Het
Rimoc1 A G 15: 4,018,187 (GRCm39) Y163H probably damaging Het
Scn2a T C 2: 65,501,997 (GRCm39) S107P probably damaging Het
Scn5a A T 9: 119,351,632 (GRCm39) I783N probably damaging Het
Snx1 A G 9: 66,001,734 (GRCm39) W307R probably damaging Het
Stk11ip G A 1: 75,511,079 (GRCm39) V928M probably benign Het
Tgm4 A G 9: 122,874,101 (GRCm39) M114V probably null Het
Trpm2 G A 10: 77,754,743 (GRCm39) R1248C probably benign Het
Txnrd1 T C 10: 82,720,880 (GRCm39) I347T possibly damaging Het
Unc5a A G 13: 55,147,316 (GRCm39) S106G probably damaging Het
Vmn2r85 T C 10: 130,254,612 (GRCm39) M691V probably benign Het
Zfp58 T A 13: 67,639,528 (GRCm39) Q321L probably benign Het
Other mutations in Spata31g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Spata31g1 APN 4 42,973,982 (GRCm39) missense probably benign 0.40
IGL01340:Spata31g1 APN 4 42,971,984 (GRCm39) missense possibly damaging 0.94
IGL02078:Spata31g1 APN 4 42,972,685 (GRCm39) missense possibly damaging 0.71
IGL02082:Spata31g1 APN 4 42,970,198 (GRCm39) missense probably benign 0.00
IGL02993:Spata31g1 APN 4 42,971,719 (GRCm39) missense probably damaging 0.99
IGL03174:Spata31g1 APN 4 42,970,975 (GRCm39) missense probably benign 0.00
R0031:Spata31g1 UTSW 4 42,973,712 (GRCm39) missense probably damaging 0.99
R0179:Spata31g1 UTSW 4 42,972,214 (GRCm39) missense probably benign 0.00
R0409:Spata31g1 UTSW 4 42,972,203 (GRCm39) missense probably damaging 0.98
R0422:Spata31g1 UTSW 4 42,972,199 (GRCm39) missense possibly damaging 0.95
R0462:Spata31g1 UTSW 4 42,973,429 (GRCm39) missense probably benign
R0467:Spata31g1 UTSW 4 42,972,715 (GRCm39) missense probably benign
R0677:Spata31g1 UTSW 4 42,970,952 (GRCm39) nonsense probably null
R0723:Spata31g1 UTSW 4 42,971,691 (GRCm39) missense probably damaging 0.98
R1479:Spata31g1 UTSW 4 42,972,543 (GRCm39) missense possibly damaging 0.55
R1586:Spata31g1 UTSW 4 42,971,512 (GRCm39) missense probably benign 0.03
R1956:Spata31g1 UTSW 4 42,970,105 (GRCm39) splice site probably null
R2030:Spata31g1 UTSW 4 42,974,131 (GRCm39) nonsense probably null
R2074:Spata31g1 UTSW 4 42,974,171 (GRCm39) missense probably benign 0.38
R2162:Spata31g1 UTSW 4 42,972,238 (GRCm39) missense possibly damaging 0.59
R2419:Spata31g1 UTSW 4 42,974,146 (GRCm39) missense possibly damaging 0.94
R2939:Spata31g1 UTSW 4 42,972,946 (GRCm39) missense probably benign 0.04
R3615:Spata31g1 UTSW 4 42,971,864 (GRCm39) missense probably benign 0.10
R3616:Spata31g1 UTSW 4 42,971,864 (GRCm39) missense probably benign 0.10
R3981:Spata31g1 UTSW 4 42,971,534 (GRCm39) missense probably damaging 0.99
R5037:Spata31g1 UTSW 4 42,972,195 (GRCm39) missense probably benign
R5252:Spata31g1 UTSW 4 42,971,706 (GRCm39) missense probably benign 0.00
R5526:Spata31g1 UTSW 4 42,972,125 (GRCm39) missense possibly damaging 0.90
R5642:Spata31g1 UTSW 4 42,971,831 (GRCm39) missense possibly damaging 0.61
R5935:Spata31g1 UTSW 4 42,971,465 (GRCm39) missense probably benign
R6082:Spata31g1 UTSW 4 42,972,511 (GRCm39) missense probably benign 0.27
R6136:Spata31g1 UTSW 4 42,972,853 (GRCm39) missense probably damaging 0.96
R6361:Spata31g1 UTSW 4 42,972,695 (GRCm39) missense probably benign 0.05
R6494:Spata31g1 UTSW 4 42,971,924 (GRCm39) missense possibly damaging 0.94
R6641:Spata31g1 UTSW 4 42,971,245 (GRCm39) missense possibly damaging 0.90
R7289:Spata31g1 UTSW 4 42,973,252 (GRCm39) missense possibly damaging 0.66
R7289:Spata31g1 UTSW 4 42,972,379 (GRCm39) missense probably benign 0.00
R7777:Spata31g1 UTSW 4 42,971,095 (GRCm39) missense probably benign
R7777:Spata31g1 UTSW 4 42,970,171 (GRCm39) nonsense probably null
R7893:Spata31g1 UTSW 4 42,971,539 (GRCm39) missense probably damaging 0.99
R8066:Spata31g1 UTSW 4 42,971,929 (GRCm39) missense possibly damaging 0.66
R8311:Spata31g1 UTSW 4 42,973,169 (GRCm39) missense probably benign 0.19
R8706:Spata31g1 UTSW 4 42,971,776 (GRCm39) missense probably benign 0.02
R8743:Spata31g1 UTSW 4 42,971,030 (GRCm39) missense probably benign 0.00
R8774:Spata31g1 UTSW 4 42,971,087 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Spata31g1 UTSW 4 42,971,087 (GRCm39) missense probably damaging 1.00
R8806:Spata31g1 UTSW 4 42,971,261 (GRCm39) missense probably benign 0.37
R8916:Spata31g1 UTSW 4 42,973,034 (GRCm39) missense probably damaging 1.00
R8927:Spata31g1 UTSW 4 42,972,251 (GRCm39) missense probably benign 0.00
R8928:Spata31g1 UTSW 4 42,972,251 (GRCm39) missense probably benign 0.00
R8947:Spata31g1 UTSW 4 42,972,097 (GRCm39) missense probably benign 0.17
R9193:Spata31g1 UTSW 4 42,971,519 (GRCm39) missense probably benign 0.01
R9569:Spata31g1 UTSW 4 42,971,740 (GRCm39) missense probably benign 0.10
Posted On 2016-08-02