Incidental Mutation 'R6646:Spata31h1'
ID 527979
Institutional Source Beutler Lab
Gene Symbol Spata31h1
Ensembl Gene ENSMUSG00000044581
Gene Name SPATA31 subfamily H member 1
Synonyms 4932415D10Rik
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6646 (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 A at 82132664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 115 (E115D)
Ref Sequence ENSEMBL: ENSMUSP00000151425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217661]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000217661
AA Change: E115D
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null 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
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
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'- GCACTATTGCTCTGGATTTGC -3'
(R):5'- GTGCACTTCACTGGCTCATC -3'

Sequencing Primer
(F):5'- ATTTGCCAAGTTGTACTTTCAGG -3'
(R):5'- GGGTTCTTTACGGAAATAACTGATGC -3'
Posted On 2018-07-24