Incidental Mutation 'R9612:Spata31h1'
ID 724322
Institutional Source Beutler Lab
Gene Symbol Spata31h1
Ensembl Gene ENSMUSG00000044581
Gene Name SPATA31 subfamily H member 1
Synonyms 4932415D10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9612 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 82117950-82152416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82125453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 2519 (N2519I)
Ref Sequence ENSEMBL: ENSMUSP00000151425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171401] [ENSMUST00000217661]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000171401
SMART Domains Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 241 263 N/A INTRINSIC
low complexity region 387 405 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000217661
AA Change: N2519I

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,327 (GRCm39) S677P possibly damaging Het
5730480H06Rik A G 5: 48,531,872 (GRCm39) I67V probably benign Het
Adam15 T A 3: 89,249,247 (GRCm39) Y736F probably damaging Het
Adam29 A T 8: 56,325,118 (GRCm39) F445L possibly damaging Het
Adgrv1 A G 13: 81,641,082 (GRCm39) Y3318H probably damaging Het
Akap6 A G 12: 52,958,690 (GRCm39) Y815C probably damaging Het
Ankar T A 1: 72,704,294 (GRCm39) D876V possibly damaging Het
Atp6v1g2 G A 17: 35,456,733 (GRCm39) V106I probably benign Het
Bdp1 A G 13: 100,214,370 (GRCm39) S490P probably benign Het
Bet1 A T 6: 4,077,918 (GRCm39) V107D probably damaging Het
Bri3bp T C 5: 125,531,390 (GRCm39) V112A probably damaging Het
Cage1 T A 13: 38,216,351 (GRCm39) D33V probably damaging Het
Ccdc146 G T 5: 21,535,577 (GRCm39) A159E probably damaging Het
Ccnl1 C A 3: 65,865,404 (GRCm39) G49V probably damaging Het
Cdk13 A C 13: 17,926,440 (GRCm39) F787V Het
Cdk5r1 T C 11: 80,368,480 (GRCm39) V49A probably benign Het
Cdon G A 9: 35,398,201 (GRCm39) V973I probably damaging Het
Cfap298 A T 16: 90,724,275 (GRCm39) M166K probably benign Het
Chd1l T A 3: 97,488,463 (GRCm39) K518* probably null Het
Col24a1 A G 3: 145,250,960 (GRCm39) D1653G probably benign Het
Cstf3 G T 2: 104,483,370 (GRCm39) V359F possibly damaging Het
Dchs2 T C 3: 83,178,193 (GRCm39) I1082T probably damaging Het
Dlec1 A T 9: 118,956,533 (GRCm39) I736F probably damaging Het
Dnah9 T C 11: 65,818,475 (GRCm39) N3288D probably benign Het
Dpcd G T 19: 45,560,422 (GRCm39) E82* probably null Het
Ehbp1 T C 11: 22,119,124 (GRCm39) D182G probably damaging Het
Eif1ad13 A G 12: 87,762,507 (GRCm39) I76V probably benign Het
Evc2 G T 5: 37,544,130 (GRCm39) E626D probably benign Het
Evi5 T C 5: 107,943,578 (GRCm39) E589G probably benign Het
Exoc4 T C 6: 33,226,161 (GRCm39) I25T probably benign Het
Extl2 T A 3: 115,821,145 (GRCm39) *331R probably null Het
Fkbp8 G A 8: 70,984,324 (GRCm39) R225H probably damaging Het
Foxred2 A T 15: 77,836,206 (GRCm39) S384T probably damaging Het
Garre1 A T 7: 33,947,656 (GRCm39) C451S probably damaging Het
Glmn T C 5: 107,741,731 (GRCm39) E18G probably damaging Het
Gm7489 A C 15: 53,749,369 (GRCm39) Q147P unknown Het
Gm7489 C A 15: 53,749,368 (GRCm39) Q147K unknown Het
Gm8005 T A 14: 42,260,355 (GRCm39) I94F Het
Golgb1 G A 16: 36,739,967 (GRCm39) V2810M probably benign Het
Gpr21 T C 2: 37,408,399 (GRCm39) L315P probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc6 T G 6: 57,629,017 (GRCm39) S643A probably benign Het
Igkv14-100 T A 6: 68,496,317 (GRCm39) I70N probably damaging Het
Kcnn3 A G 3: 89,516,703 (GRCm39) M371V probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Klhdc4 A G 8: 122,527,917 (GRCm39) S266P possibly damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Lefty2 T A 1: 180,722,286 (GRCm39) L208Q probably damaging Het
Lingo2 T C 4: 35,708,450 (GRCm39) Y510C probably damaging Het
Lrif1 T A 3: 106,639,200 (GRCm39) V70D probably damaging Het
Lrrc74a A T 12: 86,805,345 (GRCm39) K389I possibly damaging Het
Megf8 A T 7: 25,054,488 (GRCm39) E1868V probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp8 A G 9: 7,560,608 (GRCm39) D95G probably damaging Het
Mmrn1 T A 6: 60,953,408 (GRCm39) I563N probably damaging Het
Mroh3 T C 1: 136,118,713 (GRCm39) T535A probably benign Het
Mroh9 A G 1: 162,866,498 (GRCm39) L715P probably damaging Het
Myh6 G T 14: 55,201,054 (GRCm39) A136E probably benign Het
Myom1 G T 17: 71,412,475 (GRCm39) E1231* probably null Het
Nod2 G T 8: 89,397,101 (GRCm39) C837F probably benign Het
Nos2 T A 11: 78,839,984 (GRCm39) W698R probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Oas1a A T 5: 121,040,028 (GRCm39) S188T possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 T C 16: 29,430,255 (GRCm39) M394T Het
Or1e1d-ps1 T A 11: 73,819,375 (GRCm39) D108E possibly damaging Het
Or5an6 A T 19: 12,371,983 (GRCm39) M119L probably damaging Het
Or5p66 A G 7: 107,885,487 (GRCm39) M282T probably benign Het
Or7g21 T A 9: 19,032,760 (GRCm39) S167T probably benign Het
Or7g29 A G 9: 19,286,677 (GRCm39) S167P possibly damaging Het
Oxct2a T A 4: 123,217,129 (GRCm39) D84V probably damaging Het
Oxct2b A C 4: 123,011,019 (GRCm39) D313A probably damaging Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Plppr4 T A 3: 117,115,610 (GRCm39) N749I probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pofut2 A T 10: 77,101,763 (GRCm39) M267L probably benign Het
Ppp1r42 T A 1: 10,039,067 (GRCm39) N351I possibly damaging Het
Prl2b1 T C 13: 27,572,479 (GRCm39) E37G probably benign Het
Ptpro G T 6: 137,391,318 (GRCm39) V813F probably benign Het
Rnaseh2c T C 19: 5,652,343 (GRCm39) F99L probably benign Het
Scn9a T A 2: 66,363,708 (GRCm39) I857F probably damaging Het
Slf1 A G 13: 77,197,204 (GRCm39) probably null Het
Smyd2 T C 1: 189,612,983 (GRCm39) *434W probably null Het
Stk40 A G 4: 126,030,650 (GRCm39) D290G probably damaging Het
Tdo2 C A 3: 81,879,001 (GRCm39) W82C probably damaging Het
Tmem101 A G 11: 102,044,194 (GRCm39) V231A probably damaging Het
Tns2 G A 15: 102,015,577 (GRCm39) E160K probably damaging Het
Trim31 A T 17: 37,212,551 (GRCm39) D174V probably benign Het
Unc13d A T 11: 115,961,144 (GRCm39) Y404* probably null Het
Ush2a C A 1: 188,092,063 (GRCm39) Y531* probably null Het
Vapa G A 17: 65,889,736 (GRCm39) P144S probably benign Het
Vmn1r212 C T 13: 23,067,443 (GRCm39) V297M possibly damaging Het
Vmn2r80 A C 10: 79,030,712 (GRCm39) N846T probably damaging Het
Zfp811 A G 17: 33,017,740 (GRCm39) V100A probably benign Het
Zfp958 T A 8: 4,678,298 (GRCm39) C108S probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown 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
R7201:Spata31h1 UTSW 10 82,127,461 (GRCm39) missense probably benign 0.03
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
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'- CAGATGTGGCTCATGATTGAACAC -3'
(R):5'- ACTGGGGCAAGATGTTGAATC -3'

Sequencing Primer
(F):5'- GGCTCATGATTGAACACTGTTG -3'
(R):5'- CCTCTGAGTTACAGGACA -3'
Posted On 2022-09-12