Incidental Mutation 'R6359:Spata31d1c'
ID 514201
Institutional Source Beutler Lab
Gene Symbol Spata31d1c
Ensembl Gene ENSMUSG00000074849
Gene Name spermatogenesis associated 31 subfamily D, member 1C
Synonyms 4932441B19Rik, Fam75d1c
MMRRC Submission 044509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6359 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 65180872-65185816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65183406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 316 (N316I)
Ref Sequence ENSEMBL: ENSMUSP00000097024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099427]
AlphaFold E9QAF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099427
AA Change: N316I

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: N316I

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:DUF4599 63 148 2.4e-31 PFAM
low complexity region 178 190 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
Pfam:FAM75 380 742 1.4e-120 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic5 A T 3: 81,911,803 (GRCm39) D133V possibly damaging Het
Atp11b A G 3: 35,832,210 (GRCm39) I22V probably benign Het
Ccdc18 C T 5: 108,283,391 (GRCm39) T34I probably damaging Het
Ces2a A G 8: 105,462,710 (GRCm39) I100V probably benign Het
Ddi2 T A 4: 141,411,899 (GRCm39) T338S probably damaging Het
Dync1li1 A G 9: 114,542,638 (GRCm39) I267V probably benign Het
Eif1ad14 G A 12: 87,886,275 (GRCm39) T118M probably benign Het
Fbxo10 A T 4: 45,041,796 (GRCm39) V637E possibly damaging Het
Gak T C 5: 108,719,766 (GRCm39) E458G probably damaging Het
Glp1r G T 17: 31,148,946 (GRCm39) V287F probably damaging Het
Gsdmc2 T C 15: 63,696,866 (GRCm39) E435G probably damaging Het
Hsd11b1 T A 1: 192,924,660 (GRCm39) probably benign Het
Igkv13-84 T G 6: 68,916,592 (GRCm39) F3V probably benign Het
Igsf9b C A 9: 27,220,895 (GRCm39) A87E probably benign Het
Ints1 G T 5: 139,741,972 (GRCm39) L1796I probably benign Het
Ipo8 A G 6: 148,678,748 (GRCm39) L950P probably benign Het
Lama5 T C 2: 179,837,775 (GRCm39) D931G probably benign Het
Lamb1 A G 12: 31,332,715 (GRCm39) E327G probably damaging Het
Lrp1b T C 2: 41,185,608 (GRCm39) Y1369C probably damaging Het
Mapk3 A G 7: 126,359,928 (GRCm39) T67A probably benign Het
Mrpl4 T A 9: 20,919,030 (GRCm39) V225E probably damaging Het
Ncln C T 10: 81,326,118 (GRCm39) G278S probably damaging Het
Nlrp3 G A 11: 59,439,392 (GRCm39) R323Q probably damaging Het
Nol8 A G 13: 49,817,546 (GRCm39) D774G probably benign Het
Or11i1 A T 3: 106,729,731 (GRCm39) I48N probably damaging Het
Or52p1 T C 7: 104,267,510 (GRCm39) V208A probably damaging Het
Plekha8 G T 6: 54,590,104 (GRCm39) C23F probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Spata31d1a A G 13: 59,850,920 (GRCm39) S403P probably benign Het
Tmem30c A T 16: 57,096,513 (GRCm39) S203T probably benign Het
Ttn T G 2: 76,569,300 (GRCm39) N18871H possibly damaging Het
Other mutations in Spata31d1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Spata31d1c APN 13 65,183,903 (GRCm39) missense probably damaging 1.00
IGL02830:Spata31d1c APN 13 65,183,180 (GRCm39) missense probably benign 0.25
IGL02947:Spata31d1c APN 13 65,182,759 (GRCm39) nonsense probably null
IGL03133:Spata31d1c APN 13 65,182,799 (GRCm39) missense probably benign 0.18
IGL03176:Spata31d1c APN 13 65,184,825 (GRCm39) missense probably benign 0.01
IGL03183:Spata31d1c APN 13 65,183,009 (GRCm39) missense possibly damaging 0.86
IGL03206:Spata31d1c APN 13 65,183,407 (GRCm39) missense probably benign 0.41
PIT4382001:Spata31d1c UTSW 13 65,183,985 (GRCm39) missense probably benign 0.01
R0054:Spata31d1c UTSW 13 65,180,876 (GRCm39) start gained probably benign
R0959:Spata31d1c UTSW 13 65,184,129 (GRCm39) missense probably damaging 1.00
R1232:Spata31d1c UTSW 13 65,184,428 (GRCm39) missense probably benign
R1347:Spata31d1c UTSW 13 65,183,202 (GRCm39) missense probably benign 0.00
R1347:Spata31d1c UTSW 13 65,183,202 (GRCm39) missense probably benign 0.00
R1381:Spata31d1c UTSW 13 65,184,368 (GRCm39) missense probably benign 0.08
R1573:Spata31d1c UTSW 13 65,182,883 (GRCm39) missense possibly damaging 0.92
R1582:Spata31d1c UTSW 13 65,181,038 (GRCm39) missense probably benign
R1639:Spata31d1c UTSW 13 65,183,853 (GRCm39) missense probably benign
R1716:Spata31d1c UTSW 13 65,181,030 (GRCm39) missense possibly damaging 0.86
R1781:Spata31d1c UTSW 13 65,183,985 (GRCm39) missense probably benign 0.01
R1907:Spata31d1c UTSW 13 65,183,690 (GRCm39) missense probably benign 0.03
R2012:Spata31d1c UTSW 13 65,183,041 (GRCm39) missense possibly damaging 0.91
R2152:Spata31d1c UTSW 13 65,181,779 (GRCm39) critical splice donor site probably null
R2211:Spata31d1c UTSW 13 65,183,753 (GRCm39) missense probably benign 0.04
R2571:Spata31d1c UTSW 13 65,184,198 (GRCm39) missense probably damaging 1.00
R2908:Spata31d1c UTSW 13 65,181,005 (GRCm39) missense possibly damaging 0.63
R3978:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3979:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3980:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3981:Spata31d1c UTSW 13 65,182,925 (GRCm39) missense possibly damaging 0.68
R4014:Spata31d1c UTSW 13 65,183,213 (GRCm39) missense probably damaging 0.99
R4255:Spata31d1c UTSW 13 65,183,531 (GRCm39) missense probably benign 0.04
R4255:Spata31d1c UTSW 13 65,183,502 (GRCm39) nonsense probably null
R4592:Spata31d1c UTSW 13 65,183,874 (GRCm39) missense probably damaging 0.99
R4597:Spata31d1c UTSW 13 65,183,427 (GRCm39) nonsense probably null
R4624:Spata31d1c UTSW 13 65,184,411 (GRCm39) missense probably benign
R4641:Spata31d1c UTSW 13 65,182,862 (GRCm39) missense probably benign 0.01
R4863:Spata31d1c UTSW 13 65,183,604 (GRCm39) nonsense probably null
R5084:Spata31d1c UTSW 13 65,182,944 (GRCm39) missense probably damaging 0.98
R5152:Spata31d1c UTSW 13 65,183,409 (GRCm39) missense probably damaging 1.00
R5230:Spata31d1c UTSW 13 65,183,248 (GRCm39) missense probably benign 0.41
R5267:Spata31d1c UTSW 13 65,183,718 (GRCm39) missense probably damaging 0.98
R5615:Spata31d1c UTSW 13 65,183,078 (GRCm39) missense possibly damaging 0.61
R5755:Spata31d1c UTSW 13 65,184,341 (GRCm39) missense probably benign 0.12
R5935:Spata31d1c UTSW 13 65,184,894 (GRCm39) missense possibly damaging 0.68
R6017:Spata31d1c UTSW 13 65,182,893 (GRCm39) missense possibly damaging 0.91
R6131:Spata31d1c UTSW 13 65,183,485 (GRCm39) missense probably benign 0.10
R6723:Spata31d1c UTSW 13 65,183,758 (GRCm39) missense probably benign 0.01
R7028:Spata31d1c UTSW 13 65,183,877 (GRCm39) missense probably damaging 0.98
R7336:Spata31d1c UTSW 13 65,183,942 (GRCm39) missense probably damaging 0.99
R7426:Spata31d1c UTSW 13 65,183,175 (GRCm39) missense probably benign
R7552:Spata31d1c UTSW 13 65,183,937 (GRCm39) missense probably damaging 0.98
R7605:Spata31d1c UTSW 13 65,183,654 (GRCm39) missense probably benign 0.00
R7666:Spata31d1c UTSW 13 65,183,814 (GRCm39) missense probably benign 0.01
R8403:Spata31d1c UTSW 13 65,184,044 (GRCm39) missense probably benign 0.42
R8445:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8513:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8515:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8523:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8799:Spata31d1c UTSW 13 65,184,140 (GRCm39) missense possibly damaging 0.92
R8817:Spata31d1c UTSW 13 65,182,376 (GRCm39) missense probably damaging 0.98
R8854:Spata31d1c UTSW 13 65,183,804 (GRCm39) missense possibly damaging 0.82
R8917:Spata31d1c UTSW 13 65,183,429 (GRCm39) missense probably benign 0.02
R9084:Spata31d1c UTSW 13 65,182,959 (GRCm39) missense probably benign
R9197:Spata31d1c UTSW 13 65,183,690 (GRCm39) missense probably benign 0.01
R9201:Spata31d1c UTSW 13 65,184,773 (GRCm39) missense possibly damaging 0.48
R9261:Spata31d1c UTSW 13 65,184,680 (GRCm39) missense probably damaging 0.99
R9516:Spata31d1c UTSW 13 65,184,040 (GRCm39) missense probably damaging 1.00
X0022:Spata31d1c UTSW 13 65,184,741 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AGCCCTATGGAGCTTTTCGC -3'
(R):5'- TGTGTAGAGAAGGGAGTCCC -3'

Sequencing Primer
(F):5'- CGCTAATGTTCCAATAAACAATGGC -3'
(R):5'- CAGAAGGACTGGGTATTTTTATCCTC -3'
Posted On 2018-04-27