Incidental Mutation 'R8206:Spata31d1d'
ID 635932
Institutional Source Beutler Lab
Gene Symbol Spata31d1d
Ensembl Gene ENSMUSG00000043986
Gene Name spermatogenesis associated 31 subfamily D, member 1D
Synonyms 4932411G14Rik, Fam75d1d
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 59873739-59879566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59879344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 64 (V64G)
Ref Sequence ENSEMBL: ENSMUSP00000128200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052978]
AlphaFold E9Q5W2
Predicted Effect probably benign
Transcript: ENSMUST00000052978
AA Change: V64G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: V64G

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:DUF4599 70 155 5.4e-28 PFAM
low complexity region 228 238 N/A INTRINSIC
low complexity region 284 298 N/A INTRINSIC
Pfam:FAM75 383 733 2.6e-93 PFAM
low complexity region 1017 1030 N/A INTRINSIC
low complexity region 1111 1129 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Spata31d1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Spata31d1d APN 13 59,878,029 (GRCm39) splice site probably benign
IGL02399:Spata31d1d APN 13 59,877,954 (GRCm39) splice site probably benign
IGL02531:Spata31d1d APN 13 59,875,748 (GRCm39) missense possibly damaging 0.86
IGL02687:Spata31d1d APN 13 59,875,678 (GRCm39) missense possibly damaging 0.71
IGL02815:Spata31d1d APN 13 59,874,678 (GRCm39) missense possibly damaging 0.72
IGL02893:Spata31d1d APN 13 59,873,793 (GRCm39) missense possibly damaging 0.72
IGL03037:Spata31d1d APN 13 59,873,947 (GRCm39) missense possibly damaging 0.86
IGL02796:Spata31d1d UTSW 13 59,876,057 (GRCm39) missense possibly damaging 0.93
R0612:Spata31d1d UTSW 13 59,875,787 (GRCm39) missense probably benign 0.06
R1345:Spata31d1d UTSW 13 59,873,838 (GRCm39) missense possibly damaging 0.72
R1572:Spata31d1d UTSW 13 59,876,005 (GRCm39) missense probably benign 0.01
R1736:Spata31d1d UTSW 13 59,874,311 (GRCm39) missense probably benign 0.02
R1750:Spata31d1d UTSW 13 59,876,509 (GRCm39) missense probably benign 0.33
R1894:Spata31d1d UTSW 13 59,875,936 (GRCm39) missense probably benign 0.09
R2202:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2203:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2204:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2913:Spata31d1d UTSW 13 59,874,769 (GRCm39) missense possibly damaging 0.72
R3942:Spata31d1d UTSW 13 59,875,276 (GRCm39) missense probably benign 0.18
R4513:Spata31d1d UTSW 13 59,876,368 (GRCm39) missense probably benign 0.32
R4824:Spata31d1d UTSW 13 59,877,055 (GRCm39) missense possibly damaging 0.86
R4959:Spata31d1d UTSW 13 59,875,102 (GRCm39) missense probably damaging 1.00
R4970:Spata31d1d UTSW 13 59,875,334 (GRCm39) missense probably benign 0.33
R5406:Spata31d1d UTSW 13 59,876,592 (GRCm39) missense probably benign 0.33
R5618:Spata31d1d UTSW 13 59,874,214 (GRCm39) missense probably benign 0.01
R5688:Spata31d1d UTSW 13 59,874,322 (GRCm39) missense probably damaging 0.98
R5741:Spata31d1d UTSW 13 59,876,500 (GRCm39) missense possibly damaging 0.86
R5867:Spata31d1d UTSW 13 59,875,054 (GRCm39) missense possibly damaging 0.53
R5930:Spata31d1d UTSW 13 59,874,829 (GRCm39) missense probably benign
R6263:Spata31d1d UTSW 13 59,873,797 (GRCm39) missense probably benign 0.18
R6267:Spata31d1d UTSW 13 59,876,278 (GRCm39) missense possibly damaging 0.93
R6296:Spata31d1d UTSW 13 59,876,278 (GRCm39) missense possibly damaging 0.93
R6597:Spata31d1d UTSW 13 59,873,871 (GRCm39) missense probably benign 0.01
R6985:Spata31d1d UTSW 13 59,879,429 (GRCm39) missense probably benign 0.00
R7032:Spata31d1d UTSW 13 59,876,046 (GRCm39) missense probably benign
R7174:Spata31d1d UTSW 13 59,876,394 (GRCm39) missense possibly damaging 0.72
R7322:Spata31d1d UTSW 13 59,874,790 (GRCm39) missense probably benign
R7444:Spata31d1d UTSW 13 59,875,007 (GRCm39) missense probably benign 0.33
R7946:Spata31d1d UTSW 13 59,878,606 (GRCm39) missense probably benign 0.02
R8912:Spata31d1d UTSW 13 59,875,136 (GRCm39) missense possibly damaging 0.53
R8995:Spata31d1d UTSW 13 59,874,421 (GRCm39) missense probably benign 0.33
R9215:Spata31d1d UTSW 13 59,875,823 (GRCm39) missense probably benign 0.32
R9800:Spata31d1d UTSW 13 59,874,637 (GRCm39) missense possibly damaging 0.53
Z1176:Spata31d1d UTSW 13 59,873,981 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- CAGATGAAACTAATGCCTTCCATC -3'
(R):5'- GCCCCTGAGATTCACACTATG -3'

Sequencing Primer
(F):5'- TGAAACTAATGCCTTCCATCCCAGG -3'
(R):5'- AAAGGTTCTCTCCATTCTCAATAGC -3'
Posted On 2020-07-13