Incidental Mutation 'R3978:Spata31d1c'
ID 311147
Institutional Source Beutler Lab
Gene Symbol Spata31d1c
Ensembl Gene ENSMUSG00000074849
Gene Name spermatogenesis associated 31 subfamily D, member 1C
Synonyms 4932441B19Rik, Fam75d1c
MMRRC Submission 040941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3978 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 65180872-65185816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65182974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 172 (D172G)
Ref Sequence ENSEMBL: ENSMUSP00000097024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099427]
AlphaFold E9QAF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099427
AA Change: D172G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: D172G

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T 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
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
R6359:Spata31d1c UTSW 13 65,183,406 (GRCm39) missense possibly damaging 0.63
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'- TCCAGATCCCTACTGTGGTGTG -3'
(R):5'- CAGTTCTGTTTCCGGAGTGAC -3'

Sequencing Primer
(F):5'- GTGTGTAATGGAGCAACTGC -3'
(R):5'- CTGTTTCCGGAGTGACATATTG -3'
Posted On 2015-04-29