Incidental Mutation 'R2039:Spata31h1'
ID 225437
Institutional Source Beutler Lab
Gene Symbol Spata31h1
Ensembl Gene ENSMUSG00000044581
Gene Name SPATA31 subfamily H member 1
Synonyms 4932415D10Rik
MMRRC Submission 040046-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2039 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 82117950-82152416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82120510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 4167 (S4167P)
Ref Sequence ENSEMBL: ENSMUSP00000151425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171401] [ENSMUST00000217661]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000171401
AA Change: S197P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: S197P

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 damaging
Transcript: ENSMUST00000217661
AA Change: S4167P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2655 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,636,908 (GRCm39) T757K probably benign Het
Abca14 T C 7: 119,911,487 (GRCm39) V1357A probably damaging Het
Abca5 A G 11: 110,190,755 (GRCm39) F785S probably damaging Het
Bltp1 T A 3: 37,058,027 (GRCm39) F3206I possibly damaging Het
Bmal1 T G 7: 112,884,319 (GRCm39) L119R probably damaging Het
Cacna1h T C 17: 25,610,819 (GRCm39) I554V probably benign Het
Cuzd1 A T 7: 130,916,643 (GRCm39) probably benign Het
Cuzd1 T C 7: 130,911,345 (GRCm39) S545G probably benign Het
Edrf1 T A 7: 133,255,678 (GRCm39) Y574* probably null Het
Eef1d T C 15: 75,767,618 (GRCm39) D252G probably damaging Het
Efna5 T G 17: 63,188,061 (GRCm39) D22A probably benign Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Etl4 T C 2: 20,790,039 (GRCm39) S881P probably damaging Het
Exoc3 A G 13: 74,341,096 (GRCm39) I236T probably benign Het
Far2 T C 6: 148,067,075 (GRCm39) L320S probably benign Het
Fsd1l T A 4: 53,679,972 (GRCm39) D223E probably benign Het
Fut1 C T 7: 45,268,415 (GRCm39) A123V possibly damaging Het
Gap43 A T 16: 42,112,715 (GRCm39) D15E possibly damaging Het
Gm12789 T C 4: 101,846,183 (GRCm39) probably benign Het
Gm5114 T A 7: 39,058,612 (GRCm39) T336S probably damaging Het
Hhla1 G A 15: 65,808,226 (GRCm39) T273I possibly damaging Het
Hira A G 16: 18,770,451 (GRCm39) H812R probably benign Het
Hsp90aa1 T C 12: 110,660,216 (GRCm39) N360S probably damaging Het
Kmt2c A G 5: 25,534,038 (GRCm39) L1463S possibly damaging Het
Lman2l A G 1: 36,467,535 (GRCm39) F171S probably damaging Het
Lrfn5 T C 12: 61,887,109 (GRCm39) L299S possibly damaging Het
Msr1 A T 8: 40,042,418 (GRCm39) W386R probably damaging Het
Myo1e T C 9: 70,227,415 (GRCm39) V162A possibly damaging Het
Npy6r A G 18: 44,409,070 (GRCm39) T164A probably benign Het
Or52e4 T C 7: 104,705,597 (GRCm39) L48P possibly damaging Het
Rbak C A 5: 143,158,930 (GRCm39) V708L probably benign Het
Rev3l A G 10: 39,700,440 (GRCm39) I1646V probably damaging Het
Rsrc1 A G 3: 66,901,951 (GRCm39) T34A unknown Het
Septin9 G A 11: 117,242,443 (GRCm39) V53I probably damaging Het
Snrnp200 G A 2: 127,076,904 (GRCm39) A1646T probably benign Het
Sqor G A 2: 122,634,324 (GRCm39) probably null Het
St7 T C 6: 17,886,111 (GRCm39) Y358H probably damaging Het
Tafa1 C A 6: 96,631,725 (GRCm39) probably null Het
Tas2r126 T A 6: 42,411,557 (GRCm39) M30K probably benign Het
Thsd7a G A 6: 12,408,922 (GRCm39) T700I possibly damaging Het
Ttn T G 2: 76,698,810 (GRCm39) probably benign Het
Ugt1a10 T G 1: 87,983,703 (GRCm39) I167S probably benign Het
Uhmk1 T C 1: 170,039,836 (GRCm39) D88G probably damaging Het
Washc2 T A 6: 116,201,400 (GRCm39) F332Y probably damaging Het
Wdr48 T A 9: 119,738,453 (GRCm39) W38R probably damaging Het
Zfc3h1 A G 10: 115,242,388 (GRCm39) D622G 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
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
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'- ATCACTCTTGGACTGGGAGAG -3'
(R):5'- AGTTCCAAGGACCATTTCTCAG -3'

Sequencing Primer
(F):5'- CTCTTGGACTGGGAGAGAGAACTTG -3'
(R):5'- AGGACCATTTCTCAGACTTCAGTGG -3'
Posted On 2014-08-25