Incidental Mutation 'R7201:Spata31h1'
ID 560320
Institutional Source Beutler Lab
Gene Symbol Spata31h1
Ensembl Gene ENSMUSG00000044581
Gene Name SPATA31 subfamily H member 1
Synonyms 4932415D10Rik
MMRRC Submission 045279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7201 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 82117950-82152416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82127461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1850 (M1850V)
Ref Sequence ENSEMBL: ENSMUSP00000151425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217661]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000217661
AA Change: M1850V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,300 (GRCm39) T903A probably benign Het
Acin1 A T 14: 54,902,356 (GRCm39) S479T possibly damaging Het
Actr6 A T 10: 89,548,374 (GRCm39) D370E probably benign Het
Adgrl3 T C 5: 81,872,069 (GRCm39) F921S probably damaging Het
Ankmy1 A T 1: 92,814,546 (GRCm39) H320Q possibly damaging Het
Arhgef5 C T 6: 43,250,166 (GRCm39) Q306* probably null Het
Art4 A T 6: 136,831,547 (GRCm39) V198E probably benign Het
Asph G A 4: 9,474,917 (GRCm39) R686W probably damaging Het
Atg7 A G 6: 114,754,018 (GRCm39) H724R probably damaging Het
BC034090 A G 1: 155,117,680 (GRCm39) V146A probably damaging Het
Bcl2a1d T A 9: 88,613,639 (GRCm39) Q45L probably damaging Het
Bmal1 T A 7: 112,884,349 (GRCm39) M122K probably damaging Het
Cd28 G T 1: 60,802,332 (GRCm39) E84* probably null Het
Ceacam3 G A 7: 16,892,163 (GRCm39) W302* probably null Het
Cerkl T C 2: 79,163,934 (GRCm39) N462S probably benign Het
Cisd2 A T 3: 135,116,974 (GRCm39) L39H probably damaging Het
Col11a1 C A 3: 113,883,806 (GRCm39) T225K unknown Het
Col15a1 A T 4: 47,307,752 (GRCm39) Y1178F possibly damaging Het
Cul4a T C 8: 13,192,991 (GRCm39) S630P probably damaging Het
Cyp2c38 T A 19: 39,390,220 (GRCm39) I327F probably damaging Het
Cyp3a25 A C 5: 145,928,257 (GRCm39) S263A probably benign Het
Cyp3a25 T A 5: 145,939,868 (GRCm39) L46F probably benign Het
Dmrta1 T A 4: 89,580,408 (GRCm39) L456* probably null Het
Dnah12 T C 14: 26,536,579 (GRCm39) L2165P probably benign Het
Dsg1a C A 18: 20,461,368 (GRCm39) S253R probably damaging Het
Egln2 A C 7: 26,859,744 (GRCm39) I323S probably damaging Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fcgr2b G T 1: 170,790,966 (GRCm39) Q276K probably benign Het
Fcrl2 C T 3: 87,159,934 (GRCm39) C440Y probably damaging Het
Fmnl2 T C 2: 52,963,666 (GRCm39) V266A unknown Het
Glo1 A T 17: 30,816,828 (GRCm39) D109E probably benign Het
Grin3b A G 10: 79,809,912 (GRCm39) R473G possibly damaging Het
Ica1 G A 6: 8,644,015 (GRCm39) L425F probably damaging Het
Iho1 A T 9: 108,281,974 (GRCm39) D571E probably damaging Het
Ilrun A C 17: 28,013,044 (GRCm39) probably null Het
Kcnq5 T C 1: 21,473,099 (GRCm39) E716G possibly damaging Het
Klra17 A T 6: 129,850,306 (GRCm39) I48K possibly damaging Het
Lrrc66 G T 5: 73,787,240 (GRCm39) Q37K probably benign Het
Ly6a T A 15: 74,868,325 (GRCm39) T55S probably benign Het
Lyst T A 13: 13,883,885 (GRCm39) Y2924* probably null Het
Lyzl6 A G 11: 103,522,177 (GRCm39) Y140H probably benign Het
Mak T C 13: 41,204,916 (GRCm39) I141V possibly damaging Het
Mapk7 A G 11: 61,379,998 (GRCm39) I789T probably benign Het
Mgat4f A G 1: 134,318,206 (GRCm39) D326G possibly damaging Het
Mrpl4 T C 9: 20,918,634 (GRCm39) I123T probably benign Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Myef2 T C 2: 124,938,082 (GRCm39) probably null Het
Myh7 T C 14: 55,228,402 (GRCm39) T235A possibly damaging Het
Myo18b C T 5: 112,863,325 (GRCm39) C2171Y probably damaging Het
Nat8 A T 6: 85,807,877 (GRCm39) Y85* probably null Het
Nyap1 A T 5: 137,734,524 (GRCm39) S170T probably damaging Het
Ogfr AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,887 (GRCm39) probably benign Het
Or10ah1-ps1 A G 5: 143,123,553 (GRCm39) Y157H probably damaging Het
Or1e32 A G 11: 73,705,167 (GRCm39) V247A probably benign Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Papss1 T C 3: 131,305,687 (GRCm39) L244P probably damaging Het
Pibf1 A T 14: 99,433,844 (GRCm39) D597V probably damaging Het
Pmpcb T A 5: 21,942,177 (GRCm39) M1K probably null Het
Ppwd1 G A 13: 104,343,680 (GRCm39) P575L probably damaging Het
Pramel17 T A 4: 101,695,338 (GRCm39) probably null Het
Prc1 A G 7: 79,960,837 (GRCm39) Q457R possibly damaging Het
Prdm10 T C 9: 31,227,602 (GRCm39) V69A possibly damaging Het
Prkdc A G 16: 15,516,667 (GRCm39) I1014V probably benign Het
Rab3gap2 A G 1: 184,999,388 (GRCm39) Y999C probably damaging Het
Robo3 G A 9: 37,335,626 (GRCm39) Q539* probably null Het
Rps12 A G 10: 23,661,129 (GRCm39) Y127H probably benign Het
Sar1b A G 11: 51,679,079 (GRCm39) D116G probably benign Het
Selenbp2 C T 3: 94,609,664 (GRCm39) P294L probably benign Het
Slc6a2 T C 8: 93,722,300 (GRCm39) Y516H probably damaging Het
Slit2 A G 5: 48,394,627 (GRCm39) N673S probably null Het
Snap91 A T 9: 86,672,199 (GRCm39) probably null Het
Srpk2 A G 5: 23,712,626 (GRCm39) F653L possibly damaging Het
Supt5 A T 7: 28,016,213 (GRCm39) S824T probably benign Het
Taar7a A G 10: 23,868,358 (GRCm39) V341A probably benign Het
Tmem52 G A 4: 155,554,778 (GRCm39) G134R probably damaging Het
Ush2a A G 1: 188,606,951 (GRCm39) T3949A probably benign Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Vmn1r173 A T 7: 23,401,583 (GRCm39) probably benign Het
Vmn2r118 G A 17: 55,915,496 (GRCm39) R485* probably null Het
Vwce A G 19: 10,615,479 (GRCm39) E120G possibly damaging Het
Zfp143 T C 7: 109,692,287 (GRCm39) V566A possibly damaging Het
Other mutations in Spata31h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Spata31h1 APN 10 82,119,586 (GRCm39) missense probably benign 0.06
IGL01457:Spata31h1 APN 10 82,120,568 (GRCm39) missense probably damaging 1.00
IGL01540:Spata31h1 APN 10 82,120,016 (GRCm39) missense possibly damaging 0.87
IGL02693:Spata31h1 APN 10 82,121,092 (GRCm39) missense probably benign 0.06
IGL02867:Spata31h1 APN 10 82,119,654 (GRCm39) missense probably damaging 0.96
IGL02889:Spata31h1 APN 10 82,119,654 (GRCm39) missense probably damaging 0.96
IGL03080:Spata31h1 APN 10 82,119,816 (GRCm39) missense probably damaging 0.99
IGL03120:Spata31h1 APN 10 82,120,869 (GRCm39) missense possibly damaging 0.90
IGL03351:Spata31h1 APN 10 82,119,401 (GRCm39) utr 3 prime probably benign
FR4449:Spata31h1 UTSW 10 82,121,303 (GRCm39) frame shift probably null
FR4548:Spata31h1 UTSW 10 82,126,830 (GRCm39) small insertion probably benign
FR4737:Spata31h1 UTSW 10 82,121,303 (GRCm39) small deletion probably benign
PIT4480001:Spata31h1 UTSW 10 82,119,586 (GRCm39) missense probably benign 0.06
R0102:Spata31h1 UTSW 10 82,119,390 (GRCm39) missense probably damaging 1.00
R0312:Spata31h1 UTSW 10 82,120,203 (GRCm39) missense probably damaging 1.00
R1303:Spata31h1 UTSW 10 82,120,390 (GRCm39) missense possibly damaging 0.94
R2039:Spata31h1 UTSW 10 82,120,510 (GRCm39) missense probably damaging 1.00
R2356:Spata31h1 UTSW 10 82,119,789 (GRCm39) missense possibly damaging 0.94
R4740:Spata31h1 UTSW 10 82,119,481 (GRCm39) missense possibly damaging 0.50
R4857:Spata31h1 UTSW 10 82,119,682 (GRCm39) missense possibly damaging 0.61
R5017:Spata31h1 UTSW 10 82,132,510 (GRCm39) missense unknown
R5095:Spata31h1 UTSW 10 82,119,501 (GRCm39) missense probably damaging 1.00
R5209:Spata31h1 UTSW 10 82,119,652 (GRCm39) missense possibly damaging 0.84
R5388:Spata31h1 UTSW 10 82,119,561 (GRCm39) missense probably damaging 0.99
R5642:Spata31h1 UTSW 10 82,120,317 (GRCm39) missense probably damaging 1.00
R5646:Spata31h1 UTSW 10 82,119,610 (GRCm39) missense probably damaging 0.99
R6188:Spata31h1 UTSW 10 82,121,091 (GRCm39) missense probably damaging 0.96
R6215:Spata31h1 UTSW 10 82,126,946 (GRCm39) missense probably benign 0.07
R6252:Spata31h1 UTSW 10 82,119,588 (GRCm39) missense probably benign 0.30
R6275:Spata31h1 UTSW 10 82,121,202 (GRCm39) missense probably damaging 1.00
R6303:Spata31h1 UTSW 10 82,126,202 (GRCm39) missense possibly damaging 0.79
R6304:Spata31h1 UTSW 10 82,126,202 (GRCm39) missense possibly damaging 0.79
R6313:Spata31h1 UTSW 10 82,129,470 (GRCm39) missense probably benign 0.00
R6323:Spata31h1 UTSW 10 82,118,916 (GRCm39) missense probably benign 0.27
R6374:Spata31h1 UTSW 10 82,124,731 (GRCm39) unclassified probably benign
R6407:Spata31h1 UTSW 10 82,129,645 (GRCm39) missense probably benign 0.16
R6468:Spata31h1 UTSW 10 82,131,150 (GRCm39) missense probably benign 0.01
R6490:Spata31h1 UTSW 10 82,125,138 (GRCm39) missense possibly damaging 0.90
R6605:Spata31h1 UTSW 10 82,131,871 (GRCm39) missense probably benign 0.27
R6614:Spata31h1 UTSW 10 82,127,482 (GRCm39) missense probably benign 0.31
R6626:Spata31h1 UTSW 10 82,128,667 (GRCm39) missense probably benign 0.03
R6630:Spata31h1 UTSW 10 82,122,906 (GRCm39) missense possibly damaging 0.81
R6646:Spata31h1 UTSW 10 82,132,664 (GRCm39) missense unknown
R6723:Spata31h1 UTSW 10 82,125,657 (GRCm39) missense possibly damaging 0.50
R6751:Spata31h1 UTSW 10 82,119,331 (GRCm39) missense probably benign 0.06
R6850:Spata31h1 UTSW 10 82,128,888 (GRCm39) missense possibly damaging 0.68
R6944:Spata31h1 UTSW 10 82,132,056 (GRCm39) missense probably benign 0.03
R6957:Spata31h1 UTSW 10 82,129,620 (GRCm39) missense probably benign 0.03
R6988:Spata31h1 UTSW 10 82,127,733 (GRCm39) missense possibly damaging 0.79
R7069:Spata31h1 UTSW 10 82,125,777 (GRCm39) missense probably damaging 0.99
R7164:Spata31h1 UTSW 10 82,122,063 (GRCm39) missense probably damaging 1.00
R7175:Spata31h1 UTSW 10 82,122,583 (GRCm39) missense probably damaging 1.00
R7203:Spata31h1 UTSW 10 82,129,248 (GRCm39) missense probably benign 0.00
R7205:Spata31h1 UTSW 10 82,125,161 (GRCm39) missense probably benign 0.35
R7241:Spata31h1 UTSW 10 82,122,876 (GRCm39) missense probably benign 0.01
R7283:Spata31h1 UTSW 10 82,127,131 (GRCm39) missense possibly damaging 0.90
R7305:Spata31h1 UTSW 10 82,120,953 (GRCm39) missense probably benign 0.06
R7358:Spata31h1 UTSW 10 82,127,847 (GRCm39) missense possibly damaging 0.79
R7360:Spata31h1 UTSW 10 82,132,341 (GRCm39) missense unknown
R7362:Spata31h1 UTSW 10 82,128,831 (GRCm39) missense possibly damaging 0.79
R7385:Spata31h1 UTSW 10 82,123,729 (GRCm39) missense probably benign 0.05
R7385:Spata31h1 UTSW 10 82,123,571 (GRCm39) missense probably benign 0.03
R7472:Spata31h1 UTSW 10 82,119,421 (GRCm39) missense probably benign 0.03
R7493:Spata31h1 UTSW 10 82,152,264 (GRCm39) missense unknown
R7493:Spata31h1 UTSW 10 82,124,798 (GRCm39) nonsense probably null
R7498:Spata31h1 UTSW 10 82,127,113 (GRCm39) missense probably benign 0.03
R7512:Spata31h1 UTSW 10 82,128,469 (GRCm39) missense probably benign 0.31
R7560:Spata31h1 UTSW 10 82,120,449 (GRCm39) missense probably damaging 1.00
R7591:Spata31h1 UTSW 10 82,128,046 (GRCm39) missense probably benign 0.16
R7636:Spata31h1 UTSW 10 82,130,973 (GRCm39) missense probably benign 0.01
R7640:Spata31h1 UTSW 10 82,130,490 (GRCm39) missense probably damaging 0.99
R7709:Spata31h1 UTSW 10 82,126,366 (GRCm39) missense possibly damaging 0.81
R7790:Spata31h1 UTSW 10 82,123,329 (GRCm39) missense probably benign 0.06
R7875:Spata31h1 UTSW 10 82,123,456 (GRCm39) missense possibly damaging 0.79
R7878:Spata31h1 UTSW 10 82,119,856 (GRCm39) missense probably benign 0.04
R7899:Spata31h1 UTSW 10 82,118,731 (GRCm39) missense unknown
R7905:Spata31h1 UTSW 10 82,131,936 (GRCm39) missense probably benign 0.03
R7975:Spata31h1 UTSW 10 82,119,823 (GRCm39) missense possibly damaging 0.95
R7988:Spata31h1 UTSW 10 82,131,934 (GRCm39) missense probably benign 0.03
R8076:Spata31h1 UTSW 10 82,132,520 (GRCm39) nonsense probably null
R8144:Spata31h1 UTSW 10 82,130,433 (GRCm39) nonsense probably null
R8429:Spata31h1 UTSW 10 82,125,301 (GRCm39) missense possibly damaging 0.62
R8465:Spata31h1 UTSW 10 82,152,298 (GRCm39) missense possibly damaging 0.52
R8470:Spata31h1 UTSW 10 82,126,314 (GRCm39) missense probably damaging 1.00
R8509:Spata31h1 UTSW 10 82,126,950 (GRCm39) missense probably benign 0.01
R8515:Spata31h1 UTSW 10 82,124,436 (GRCm39) missense probably benign 0.00
R8672:Spata31h1 UTSW 10 82,127,726 (GRCm39) missense probably benign 0.01
R8700:Spata31h1 UTSW 10 82,127,859 (GRCm39) missense possibly damaging 0.84
R8827:Spata31h1 UTSW 10 82,129,617 (GRCm39) missense probably benign 0.07
R8872:Spata31h1 UTSW 10 82,128,619 (GRCm39) missense probably benign 0.07
R8875:Spata31h1 UTSW 10 82,123,476 (GRCm39) missense probably benign 0.16
R8884:Spata31h1 UTSW 10 82,119,486 (GRCm39) missense probably damaging 0.96
R8906:Spata31h1 UTSW 10 82,122,379 (GRCm39) missense probably benign 0.02
R8924:Spata31h1 UTSW 10 82,131,295 (GRCm39) missense probably benign 0.03
R8949:Spata31h1 UTSW 10 82,123,753 (GRCm39) missense probably benign 0.00
R8957:Spata31h1 UTSW 10 82,124,908 (GRCm39) missense probably benign 0.07
R9042:Spata31h1 UTSW 10 82,123,185 (GRCm39) missense probably benign 0.08
R9056:Spata31h1 UTSW 10 82,127,101 (GRCm39) missense probably benign 0.01
R9062:Spata31h1 UTSW 10 82,126,945 (GRCm39) missense probably benign 0.03
R9074:Spata31h1 UTSW 10 82,123,894 (GRCm39) missense possibly damaging 0.90
R9086:Spata31h1 UTSW 10 82,124,577 (GRCm39) missense probably benign 0.07
R9113:Spata31h1 UTSW 10 82,131,352 (GRCm39) nonsense probably null
R9119:Spata31h1 UTSW 10 82,131,553 (GRCm39) missense probably benign 0.03
R9132:Spata31h1 UTSW 10 82,127,896 (GRCm39) missense possibly damaging 0.85
R9141:Spata31h1 UTSW 10 82,126,610 (GRCm39) missense probably damaging 0.98
R9151:Spata31h1 UTSW 10 82,120,928 (GRCm39) missense probably damaging 0.99
R9155:Spata31h1 UTSW 10 82,120,203 (GRCm39) missense probably damaging 1.00
R9159:Spata31h1 UTSW 10 82,118,524 (GRCm39) nonsense probably null
R9197:Spata31h1 UTSW 10 82,120,401 (GRCm39) missense possibly damaging 0.88
R9212:Spata31h1 UTSW 10 82,118,979 (GRCm39) missense possibly damaging 0.88
R9245:Spata31h1 UTSW 10 82,123,554 (GRCm39) missense probably benign 0.10
R9304:Spata31h1 UTSW 10 82,131,930 (GRCm39) missense probably benign 0.07
R9309:Spata31h1 UTSW 10 82,130,986 (GRCm39) missense probably benign 0.00
R9329:Spata31h1 UTSW 10 82,121,439 (GRCm39) missense probably benign 0.06
R9356:Spata31h1 UTSW 10 82,125,157 (GRCm39) missense possibly damaging 0.54
R9423:Spata31h1 UTSW 10 82,123,459 (GRCm39) missense possibly damaging 0.62
R9426:Spata31h1 UTSW 10 82,126,610 (GRCm39) missense probably damaging 0.98
R9457:Spata31h1 UTSW 10 82,122,573 (GRCm39) missense probably benign 0.02
R9509:Spata31h1 UTSW 10 82,132,229 (GRCm39) missense probably benign 0.03
R9612:Spata31h1 UTSW 10 82,125,453 (GRCm39) missense possibly damaging 0.55
R9674:Spata31h1 UTSW 10 82,120,030 (GRCm39) missense possibly damaging 0.69
R9726:Spata31h1 UTSW 10 82,118,605 (GRCm39) missense unknown
RF017:Spata31h1 UTSW 10 82,126,826 (GRCm39) small insertion probably benign
RF055:Spata31h1 UTSW 10 82,126,827 (GRCm39) small insertion probably benign
Z1176:Spata31h1 UTSW 10 82,129,062 (GRCm39) missense probably benign 0.03
Z1176:Spata31h1 UTSW 10 82,125,730 (GRCm39) missense possibly damaging 0.94
Z1176:Spata31h1 UTSW 10 82,118,371 (GRCm39) missense unknown
Z1177:Spata31h1 UTSW 10 82,123,251 (GRCm39) missense probably damaging 0.99
Z1177:Spata31h1 UTSW 10 82,122,960 (GRCm39) missense possibly damaging 0.85
Z1177:Spata31h1 UTSW 10 82,121,632 (GRCm39) missense possibly damaging 0.46
Z1177:Spata31h1 UTSW 10 82,125,520 (GRCm39) nonsense probably null
Z1187:Spata31h1 UTSW 10 82,124,390 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TAGCACAGGTGGCTTCAGTTC -3'
(R):5'- ATTGCCCATGGAGTCAGATC -3'

Sequencing Primer
(F):5'- AGACTGTGACTTTGAGTTTGACCC -3'
(R):5'- TGCCCATGGAGTCAGATCAAGAAC -3'
Posted On 2019-06-26