Incidental Mutation 'R5615:Spata31d1c'
ID 438210
Institutional Source Beutler Lab
Gene Symbol Spata31d1c
Ensembl Gene ENSMUSG00000074849
Gene Name spermatogenesis associated 31 subfamily D, member 1C
Synonyms 4932441B19Rik, Fam75d1c
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 65180872-65185816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65183078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 207 (L207I)
Ref Sequence ENSEMBL: ENSMUSP00000097024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099427]
AlphaFold E9QAF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099427
AA Change: L207I

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: L207I

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably 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
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'- CCAGTCTGGACTCCACAGTTTC -3'
(R):5'- GCATGACTTGAACTGCAAATGC -3'

Sequencing Primer
(F):5'- CAGTTTCTGTGACGGAGACAGC -3'
(R):5'- GACTTGAACTGCAAATGCCATTG -3'
Posted On 2016-10-26