Incidental Mutation 'R7472:Spata31h1'
ID 581313
Institutional Source Beutler Lab
Gene Symbol Spata31h1
Ensembl Gene ENSMUSG00000044581
Gene Name SPATA31 subfamily H member 1
Synonyms 4932415D10Rik
MMRRC Submission 045546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7472 (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 82119421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 4530 (I4530V)
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
AA Change: I560V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: I560V

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 probably benign
Transcript: ENSMUST00000217661
AA Change: I4530V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (99/100)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
4921524J17Rik G A 8: 86,159,438 (GRCm39) probably benign Het
4932438H23Rik T C 16: 90,852,744 (GRCm39) T131A probably benign Het
Acbd6 G T 1: 155,463,213 (GRCm39) E138* probably null Het
Ago3 A G 4: 126,239,310 (GRCm39) V847A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Als2cl C A 9: 110,727,174 (GRCm39) H913Q probably benign Het
Atf6 A C 1: 170,643,060 (GRCm39) S360R possibly damaging Het
Atm G C 9: 53,359,425 (GRCm39) N2789K possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifa6 A T 2: 153,831,249 (GRCm39) I272F possibly damaging Het
Cabin1 G T 10: 75,494,481 (GRCm39) P1633T probably damaging Het
Camsap2 A G 1: 136,209,131 (GRCm39) V119A probably damaging Het
Ccdc40 A G 11: 119,153,974 (GRCm39) E1082G probably benign Het
Cchcr1 C A 17: 35,839,248 (GRCm39) A479D probably damaging Het
Chpt1 C T 10: 88,312,230 (GRCm39) V349I probably benign Het
Cldn13 A T 5: 134,943,975 (GRCm39) I70K probably damaging Het
Col6a6 T A 9: 105,659,622 (GRCm39) D441V probably damaging Het
Cpne5 G T 17: 29,423,714 (GRCm39) T138K probably benign Het
Creb3l3 A T 10: 80,925,301 (GRCm39) probably null Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cyp19a1 A G 9: 54,074,277 (GRCm39) Y426H possibly damaging Het
Cyth4 T C 15: 78,490,094 (GRCm39) F72S probably damaging Het
D430041D05Rik G T 2: 104,240,484 (GRCm39) Q9K unknown Het
Dnah1 T A 14: 30,983,547 (GRCm39) I4099F probably damaging Het
Dnah1 T A 14: 31,022,748 (GRCm39) I1130F possibly damaging Het
Dnah12 A G 14: 26,578,592 (GRCm39) K3117R probably benign Het
Dpf3 A T 12: 83,319,159 (GRCm39) S275R probably benign Het
Dst A G 1: 34,257,578 (GRCm39) N2450S probably benign Het
Dync1h1 C T 12: 110,632,109 (GRCm39) R4460W probably damaging Het
Ecm1 A C 3: 95,642,632 (GRCm39) C414G possibly damaging Het
Eef2 G A 10: 81,015,384 (GRCm39) D302N probably benign Het
Egf T C 3: 129,479,912 (GRCm39) D1038G possibly damaging Het
Epm2aip1 T C 9: 111,101,467 (GRCm39) S147P probably damaging Het
Esam C A 9: 37,448,863 (GRCm39) P324T possibly damaging Het
Fbxo36 A G 1: 84,874,301 (GRCm39) D99G probably damaging Het
Fhad1 G A 4: 141,691,937 (GRCm39) R400C probably benign Het
Fhip2a A G 19: 57,357,017 (GRCm39) Y36C probably damaging Het
Fndc3b T C 3: 27,515,893 (GRCm39) T638A probably benign Het
Gba2 T C 4: 43,568,967 (GRCm39) T563A probably benign Het
Gm8180 T A 14: 44,021,094 (GRCm39) N38I possibly damaging Het
Hs3st4 A G 7: 123,996,249 (GRCm39) E305G probably damaging Het
Ireb2 T A 9: 54,791,338 (GRCm39) F191I probably benign Het
Irx3 T G 8: 92,526,625 (GRCm39) T360P probably benign Het
Itpr1 T A 6: 108,380,357 (GRCm39) I1375N probably benign Het
Klrh1 A T 6: 129,752,345 (GRCm39) F57I probably benign Het
Lama4 A T 10: 38,963,369 (GRCm39) I1314F possibly damaging Het
Lamb2 C A 9: 108,363,347 (GRCm39) A842D probably benign Het
Ldlrap1 A G 4: 134,486,307 (GRCm39) Y51H possibly damaging Het
Leo1 A G 9: 75,355,623 (GRCm39) D321G probably damaging Het
Lrrc14b A G 13: 74,511,226 (GRCm39) S285P probably damaging Het
Macf1 A G 4: 123,326,860 (GRCm39) V4881A probably benign Het
Mfsd2b A T 12: 4,916,481 (GRCm39) F333I probably damaging Het
Micall1 T C 15: 79,006,760 (GRCm39) S196P unknown Het
Mrps21 T C 3: 95,770,110 (GRCm39) N73S probably benign Het
Msantd5f5 G A 4: 73,542,736 (GRCm39) G79S probably damaging Het
Msln C T 17: 25,969,708 (GRCm39) V341M possibly damaging Het
Mybpc3 A T 2: 90,962,001 (GRCm39) M840L probably damaging Het
Myo7a A C 7: 97,714,000 (GRCm39) F1613V probably damaging Het
Naprt C T 15: 75,763,607 (GRCm39) probably null Het
Nbr1 T C 11: 101,462,765 (GRCm39) V572A probably damaging Het
Nfkbie A T 17: 45,870,233 (GRCm39) T193S probably damaging Het
Nlrp14 T G 7: 106,789,251 (GRCm39) N672K probably benign Het
Or11l3 A T 11: 58,516,260 (GRCm39) I204N probably damaging Het
Or4b1d A G 2: 89,968,668 (GRCm39) Y272H probably damaging Het
Or52ab2 A G 7: 102,969,656 (GRCm39) T13A Het
Or5b101 T C 19: 13,005,439 (GRCm39) T85A probably benign Het
Or6k14 A T 1: 173,927,299 (GRCm39) I92F probably damaging Het
Or8b49 A T 9: 38,506,200 (GRCm39) I228L probably benign Het
Oscar T C 7: 3,614,149 (GRCm39) T197A possibly damaging Het
P3h3 C A 6: 124,827,594 (GRCm39) A481S possibly damaging Het
Pcdh8 T C 14: 80,008,691 (GRCm39) probably null Het
Pcsk9 A T 4: 106,316,094 (GRCm39) H116Q probably benign Het
Ptcd1 A G 5: 145,091,540 (GRCm39) F520L possibly damaging Het
Rapgef2 T C 3: 78,976,580 (GRCm39) T1261A probably benign Het
Ribc2 T A 15: 85,019,446 (GRCm39) M76K probably benign Het
Sin3b A G 8: 73,479,853 (GRCm39) E853G probably damaging Het
Slit2 A G 5: 48,414,180 (GRCm39) D940G probably damaging Het
Smarcb1 T A 10: 75,733,373 (GRCm39) N342Y probably damaging Het
Smurf2 A T 11: 106,726,921 (GRCm39) I469N probably damaging Het
Spta1 T C 1: 174,074,065 (GRCm39) Y2335H probably damaging Het
Suz12 C T 11: 79,915,801 (GRCm39) R425C probably benign Het
Synpo G A 18: 60,762,895 (GRCm39) A4V probably benign Het
Tet1 A C 10: 62,649,129 (GRCm39) S157A possibly damaging Het
Themis A G 10: 28,637,415 (GRCm39) E173G possibly damaging Het
Timmdc1 A T 16: 38,325,780 (GRCm39) L197* probably null Het
Tmem63c T C 12: 87,115,932 (GRCm39) F191S possibly damaging Het
Tnn G A 1: 159,937,917 (GRCm39) T1200I probably benign Het
Traf6 A G 2: 101,527,537 (GRCm39) H429R probably benign Het
Trem3 T C 17: 48,556,873 (GRCm39) S115P probably benign Het
Trip11 A T 12: 101,851,639 (GRCm39) N808K probably benign Het
Trub2 A T 2: 29,673,385 (GRCm39) V106E probably damaging Het
Ugcg A G 4: 59,217,156 (GRCm39) I227V probably benign Het
Vat1l G A 8: 114,963,539 (GRCm39) probably null Het
Vmn1r184 T C 7: 25,966,824 (GRCm39) M190T possibly damaging Het
Vmn2r3 T C 3: 64,182,953 (GRCm39) T249A probably benign Het
Zfp729b A C 13: 67,742,002 (GRCm39) S88A probably benign Het
Zfp995 T C 17: 22,099,181 (GRCm39) Y351C probably 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
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
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'- TCTCTTCCACAAACCATGGTG -3'
(R):5'- ACCCAGATGAGCGATGTTTC -3'

Sequencing Primer
(F):5'- CCATGGTGGTCTGCAATTTCAAG -3'
(R):5'- GCGATGTTTCTGCCAAGAGAC -3'
Posted On 2019-10-17