Incidental Mutation 'R9245:Spata31h1'
ID 701235
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 # R9245 (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 C at 82123554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3152 (D3152G)
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 probably benign
Transcript: ENSMUST00000217661
AA Change: D3152G

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,312 (GRCm39) H96Q possibly damaging Het
Ankhd1 A G 18: 36,788,653 (GRCm39) Q411R Het
Ankrd34c A T 9: 89,610,940 (GRCm39) V467E probably damaging Het
Apobr A T 7: 126,186,507 (GRCm39) R673* probably null Het
Arhgap18 T C 10: 26,722,107 (GRCm39) V98A possibly damaging Het
Arhgap30 G T 1: 171,235,957 (GRCm39) W777L possibly damaging Het
Atp8a1 A G 5: 67,779,977 (GRCm39) Y1154H unknown Het
B3gntl1 A G 11: 121,514,770 (GRCm39) F299S possibly damaging Het
Baz2a C T 10: 127,957,812 (GRCm39) T1055I probably benign Het
Baz2b T C 2: 59,743,331 (GRCm39) M1547V probably benign Het
Bsn T C 9: 107,993,292 (GRCm39) D820G probably damaging Het
Castor1 T A 11: 4,170,485 (GRCm39) N160K probably damaging Het
Ccdc57 A G 11: 120,812,578 (GRCm39) Y59H probably damaging Het
Crim1 T A 17: 78,651,871 (GRCm39) C532S probably damaging Het
Csmd2 A C 4: 128,200,168 (GRCm39) D451A Het
Cyp2d22 A T 15: 82,256,748 (GRCm39) I342K probably damaging Het
Des A T 1: 75,343,406 (GRCm39) T430S probably benign Het
Dnah17 C T 11: 118,016,503 (GRCm39) V283I probably benign Het
Dnah9 C T 11: 65,786,731 (GRCm39) G3634E probably benign Het
Dst A G 1: 34,228,943 (GRCm39) S2179G probably benign Het
Elp1 C A 4: 56,771,003 (GRCm39) R980L probably benign Het
Esrp2 T A 8: 106,858,775 (GRCm39) T621S possibly damaging Het
Ext2 C T 2: 93,534,836 (GRCm39) V643I probably benign Het
Fastk G A 5: 24,649,172 (GRCm39) P72S probably benign Het
Fbxo28 A G 1: 182,145,566 (GRCm39) I174T possibly damaging Het
Fstl3 C T 10: 79,614,411 (GRCm39) L38F probably damaging Het
Golgb1 C T 16: 36,739,181 (GRCm39) Q2548* probably null Het
Gstm3 T C 3: 107,874,956 (GRCm39) T99A probably benign Het
H2bc15 A G 13: 21,938,369 (GRCm39) D26G unknown Het
Hadh T C 3: 131,034,636 (GRCm39) N220S probably damaging Het
Hnrnpab T C 11: 51,497,240 (GRCm39) T51A probably benign Het
Immt G T 6: 71,823,350 (GRCm39) W67L probably benign Het
Ints8 T A 4: 11,213,811 (GRCm39) probably null Het
Ipo7 T C 7: 109,643,826 (GRCm39) V407A probably damaging Het
Kics2 A T 10: 121,586,273 (GRCm39) H196L probably damaging Het
Kif20b T C 19: 34,915,725 (GRCm39) S501P probably benign Het
Krt39 T G 11: 99,407,450 (GRCm39) Q348P probably damaging Het
Lrp1b T A 2: 40,488,456 (GRCm39) N4543I Het
Macrod2 T C 2: 141,652,534 (GRCm39) V199A probably benign Het
Mast2 A G 4: 116,167,701 (GRCm39) V1052A probably damaging Het
Mfap4 T C 11: 61,378,007 (GRCm39) F149S probably damaging Het
Moap1 A G 12: 102,708,526 (GRCm39) V341A unknown Het
Mprip G T 11: 59,628,403 (GRCm39) E283D possibly damaging Het
Mrgpra2a A G 7: 47,077,004 (GRCm39) F85L possibly damaging Het
Mx1 T A 16: 97,252,753 (GRCm39) probably null Het
Ndc80 A T 17: 71,807,294 (GRCm39) M554K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Or52j3 A T 7: 102,836,194 (GRCm39) I129F probably damaging Het
Or5k1b T A 16: 58,581,126 (GRCm39) K138* probably null Het
Or6c38 T A 10: 128,929,472 (GRCm39) I124F probably damaging Het
Pck1 C T 2: 172,996,569 (GRCm39) T161I probably damaging Het
Pclo T A 5: 14,726,959 (GRCm39) M1939K unknown Het
Pcm1 T A 8: 41,732,877 (GRCm39) N711K probably damaging Het
Pkd2l1 A G 19: 44,143,894 (GRCm39) V393A probably benign Het
Pla2g15 G T 8: 106,889,539 (GRCm39) A229S possibly damaging Het
Plekhg1 G A 10: 3,907,141 (GRCm39) R741Q Het
Plod1 A G 4: 148,010,626 (GRCm39) L275P possibly damaging Het
Plvap G T 8: 71,964,323 (GRCm39) T13K possibly damaging Het
Plxna1 A T 6: 89,314,320 (GRCm39) I707N probably damaging Het
Pnma8b A G 7: 16,680,843 (GRCm39) E609G probably benign Het
Ptger4 C T 15: 5,273,193 (GRCm39) probably benign Het
Qars1 G T 9: 108,386,132 (GRCm39) E108* probably null Het
Rfpl4 C A 7: 5,113,840 (GRCm39) D114Y probably damaging Het
Rint1 A G 5: 24,010,411 (GRCm39) T207A probably benign Het
Rxfp1 A G 3: 79,552,261 (GRCm39) I680T probably benign Het
Skint2 A T 4: 112,502,616 (GRCm39) K275N probably benign Het
Slc29a3 A G 10: 60,559,755 (GRCm39) V133A possibly damaging Het
Slc9a2 A G 1: 40,805,460 (GRCm39) K680E probably benign Het
Smc1b A T 15: 85,004,846 (GRCm39) F409L probably benign Het
Sos2 A T 12: 69,695,239 (GRCm39) M166K probably damaging Het
Tead1 A G 7: 112,358,723 (GRCm39) I12V probably benign Het
Tead3 C A 17: 28,551,709 (GRCm39) K461N probably benign Het
Tex12 C A 9: 50,468,772 (GRCm39) A83S probably damaging Het
Top6bl T G 19: 4,746,068 (GRCm39) K199Q possibly damaging Het
Ttc28 A G 5: 111,325,525 (GRCm39) T319A unknown Het
Ttn T C 2: 76,728,593 (GRCm39) I5496V unknown Het
Tubb4a T A 17: 57,387,959 (GRCm39) I356F possibly damaging Het
Txk A T 5: 72,891,610 (GRCm39) W119R probably damaging Het
Txnl4a A T 18: 80,261,937 (GRCm39) I58F probably benign Het
Uba6 A T 5: 86,318,418 (GRCm39) Y44N probably damaging Het
Usp40 T C 1: 87,878,009 (GRCm39) T1093A probably benign Het
Vmn1r194 T C 13: 22,428,731 (GRCm39) I116T probably benign Het
Vmn2r14 A G 5: 109,368,176 (GRCm39) M272T possibly damaging Het
Vmn2r85 C A 10: 130,255,033 (GRCm39) M550I possibly damaging Het
Vmn2r85 C A 10: 130,261,534 (GRCm39) V268F probably damaging Het
Vwa5b2 T A 16: 20,416,890 (GRCm39) V529E probably damaging Het
Zfp141 A T 7: 42,124,821 (GRCm39) Y550* probably null Het
Zik1 G A 7: 10,224,156 (GRCm39) L314F 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
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
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'- GATCCTATCCTCAGCTGCTTAGG -3'
(R):5'- AAAAGATCCCACTTTTGAAGAGCC -3'

Sequencing Primer
(F):5'- AGGGTTTGTATCTTGAAAACATGGC -3'
(R):5'- CCACTTTTGAAGAGCCAGCTTGG -3'
Posted On 2022-03-25