Incidental Mutation 'R5169:Spata31d1b'
ID 397467
Institutional Source Beutler Lab
Gene Symbol Spata31d1b
Ensembl Gene ENSMUSG00000091311
Gene Name spermatogenesis associated 31 subfamily D, member 1B
Synonyms Gm4934, Fam75d1b
MMRRC Submission 042749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5169 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 59860098-59867103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59864309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 486 (S486P)
Ref Sequence ENSEMBL: ENSMUSP00000130813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165133]
AlphaFold E9QA57
Predicted Effect probably damaging
Transcript: ENSMUST00000165133
AA Change: S486P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S486P

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:DUF4599 65 149 3.9e-10 PFAM
low complexity region 170 188 N/A INTRINSIC
low complexity region 206 229 N/A INTRINSIC
low complexity region 352 360 N/A INTRINSIC
Pfam:FAM75 402 774 1.1e-116 PFAM
low complexity region 883 895 N/A INTRINSIC
low complexity region 983 1001 N/A INTRINSIC
low complexity region 1152 1162 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,841,552 (GRCm39) Y964* probably null Het
Acsbg2 T C 17: 57,156,913 (GRCm39) K375R probably benign Het
Ago4 C A 4: 126,405,520 (GRCm39) R415L probably benign Het
Alpk1 A T 3: 127,464,750 (GRCm39) I1176N probably damaging Het
Arhgap25 A T 6: 87,440,252 (GRCm39) I465N possibly damaging Het
Arhgef10 A G 8: 14,980,051 (GRCm39) D97G possibly damaging Het
Cdc37 T A 9: 21,052,413 (GRCm39) M299L probably benign Het
Ddx54 C A 5: 120,761,328 (GRCm39) H453Q probably damaging Het
Dip2b T C 15: 100,102,994 (GRCm39) Y1102H probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dop1a T C 9: 86,415,074 (GRCm39) F1939L probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ints7 T C 1: 191,345,202 (GRCm39) F631L probably benign Het
Itih1 A T 14: 30,655,403 (GRCm39) Y597* probably null Het
Kctd1 T C 18: 15,195,822 (GRCm39) E267G possibly damaging Het
Lrrc8e A G 8: 4,284,329 (GRCm39) T185A probably benign Het
Maco1 T C 4: 134,555,774 (GRCm39) H233R probably benign Het
Masp2 T C 4: 148,690,571 (GRCm39) I276T probably damaging Het
Med17 A T 9: 15,188,900 (GRCm39) F122I probably benign Het
Milr1 C T 11: 106,645,754 (GRCm39) R99* probably null Het
Mpp4 T C 1: 59,169,256 (GRCm39) probably null Het
Ms4a4d C T 19: 11,535,340 (GRCm39) P213S possibly damaging Het
Mtcl1 T C 17: 66,650,818 (GRCm39) N1100S probably benign Het
Myom3 T C 4: 135,502,889 (GRCm39) I322T probably benign Het
Nav2 C T 7: 49,198,231 (GRCm39) Q1287* probably null Het
Nr3c2 A T 8: 77,635,666 (GRCm39) N256Y probably damaging Het
Nrde2 A G 12: 100,095,552 (GRCm39) probably null Het
Otog G T 7: 45,947,572 (GRCm39) A2242S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 T C 3: 49,710,415 (GRCm39) D300G possibly damaging Het
Pcdh8 G A 14: 80,005,095 (GRCm39) P880S probably benign Het
Pcid2 A G 8: 13,129,632 (GRCm39) probably null Het
Phkb A G 8: 86,623,120 (GRCm39) H148R probably benign Het
Pik3r4 T C 9: 105,555,360 (GRCm39) S1106P probably benign Het
Pnpla7 A T 2: 24,940,321 (GRCm39) M1067L probably benign Het
Pp2d1 C A 17: 53,814,930 (GRCm39) G598V possibly damaging Het
Ppm1d C T 11: 85,223,196 (GRCm39) A267V probably damaging Het
Psg29 C T 7: 16,945,578 (GRCm39) P383S probably damaging Het
Rc3h2 A T 2: 37,295,324 (GRCm39) F231I probably damaging Het
Rpl14 T A 9: 120,401,254 (GRCm39) D32E possibly damaging Het
Rpl32 G T 6: 115,783,949 (GRCm39) N92K probably benign Het
Rragc A G 4: 123,829,457 (GRCm39) N391S probably damaging Het
Ryr3 C T 2: 112,501,005 (GRCm39) E3563K possibly damaging Het
Sh3rf2 A G 18: 42,286,126 (GRCm39) M508V probably benign Het
Shoc1 T A 4: 59,059,618 (GRCm39) Y1014F possibly damaging Het
Slc24a3 G A 2: 145,482,184 (GRCm39) C614Y probably benign Het
Spi1 A T 2: 90,945,428 (GRCm39) K170* probably null Het
Srgn C A 10: 62,330,866 (GRCm39) D80Y probably damaging Het
St6galnac6 A G 2: 32,504,857 (GRCm39) K87R possibly damaging Het
Sytl3 A T 17: 6,982,945 (GRCm39) K134* probably null Het
Szt2 T C 4: 118,247,027 (GRCm39) T863A probably benign Het
Tcea3 A T 4: 135,992,181 (GRCm39) probably null Het
Tg T A 15: 66,550,629 (GRCm39) L253* probably null Het
Timm8a2 T A 14: 122,272,138 (GRCm39) S14T probably benign Het
Tppp3 G C 8: 106,194,501 (GRCm39) N166K probably benign Het
Trav2 G A 14: 52,804,759 (GRCm39) V4M probably benign Het
Trmt5 T C 12: 73,329,495 (GRCm39) D221G probably damaging Het
Ttc27 T A 17: 75,054,690 (GRCm39) L332* probably null Het
V1rd19 A G 7: 23,703,209 (GRCm39) N225S possibly damaging Het
Wdr20rt A T 12: 65,274,184 (GRCm39) Q448L probably damaging Het
Zc3h7b A T 15: 81,657,515 (GRCm39) N185I probably benign Het
Zmpste24 A T 4: 120,925,914 (GRCm39) I351N probably damaging Het
Other mutations in Spata31d1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Spata31d1b APN 13 59,860,280 (GRCm39) missense probably benign 0.06
IGL02317:Spata31d1b APN 13 59,865,854 (GRCm39) missense probably damaging 0.99
IGL02885:Spata31d1b APN 13 59,866,941 (GRCm39) utr 3 prime probably benign
R0017:Spata31d1b UTSW 13 59,863,883 (GRCm39) missense probably benign
R0071:Spata31d1b UTSW 13 59,863,163 (GRCm39) missense probably benign 0.26
R0071:Spata31d1b UTSW 13 59,863,163 (GRCm39) missense probably benign 0.26
R0595:Spata31d1b UTSW 13 59,864,091 (GRCm39) missense probably benign 0.09
R0961:Spata31d1b UTSW 13 59,865,618 (GRCm39) missense possibly damaging 0.91
R1054:Spata31d1b UTSW 13 59,865,332 (GRCm39) missense probably damaging 0.96
R1124:Spata31d1b UTSW 13 59,864,468 (GRCm39) missense probably benign
R1338:Spata31d1b UTSW 13 59,865,975 (GRCm39) frame shift probably null
R1539:Spata31d1b UTSW 13 59,863,733 (GRCm39) missense possibly damaging 0.46
R1662:Spata31d1b UTSW 13 59,864,442 (GRCm39) missense probably benign 0.00
R1688:Spata31d1b UTSW 13 59,863,274 (GRCm39) missense possibly damaging 0.61
R1776:Spata31d1b UTSW 13 59,864,381 (GRCm39) missense probably benign
R1793:Spata31d1b UTSW 13 59,863,779 (GRCm39) missense probably benign
R1838:Spata31d1b UTSW 13 59,865,279 (GRCm39) missense probably benign 0.00
R1838:Spata31d1b UTSW 13 59,863,671 (GRCm39) missense probably benign
R1861:Spata31d1b UTSW 13 59,865,150 (GRCm39) missense possibly damaging 0.64
R1903:Spata31d1b UTSW 13 59,865,882 (GRCm39) missense probably damaging 0.99
R1940:Spata31d1b UTSW 13 59,865,835 (GRCm39) missense possibly damaging 0.91
R1994:Spata31d1b UTSW 13 59,864,194 (GRCm39) missense probably benign
R1995:Spata31d1b UTSW 13 59,864,194 (GRCm39) missense probably benign
R2407:Spata31d1b UTSW 13 59,864,660 (GRCm39) missense possibly damaging 0.64
R3692:Spata31d1b UTSW 13 59,865,705 (GRCm39) missense probably benign 0.03
R4576:Spata31d1b UTSW 13 59,864,675 (GRCm39) missense probably damaging 0.98
R4734:Spata31d1b UTSW 13 59,866,172 (GRCm39) missense probably damaging 1.00
R4742:Spata31d1b UTSW 13 59,864,426 (GRCm39) missense probably damaging 0.98
R4749:Spata31d1b UTSW 13 59,866,172 (GRCm39) missense probably damaging 1.00
R4806:Spata31d1b UTSW 13 59,863,535 (GRCm39) missense probably benign 0.32
R4808:Spata31d1b UTSW 13 59,863,535 (GRCm39) missense probably benign 0.32
R4844:Spata31d1b UTSW 13 59,866,169 (GRCm39) missense possibly damaging 0.85
R4942:Spata31d1b UTSW 13 59,864,917 (GRCm39) missense possibly damaging 0.70
R4953:Spata31d1b UTSW 13 59,864,097 (GRCm39) missense probably damaging 0.96
R5093:Spata31d1b UTSW 13 59,863,838 (GRCm39) missense possibly damaging 0.84
R5384:Spata31d1b UTSW 13 59,866,032 (GRCm39) missense possibly damaging 0.68
R5386:Spata31d1b UTSW 13 59,866,866 (GRCm39) missense possibly damaging 0.95
R5502:Spata31d1b UTSW 13 59,864,486 (GRCm39) missense probably damaging 1.00
R5751:Spata31d1b UTSW 13 59,866,787 (GRCm39) missense probably benign 0.03
R6054:Spata31d1b UTSW 13 59,863,464 (GRCm39) missense probably benign
R6433:Spata31d1b UTSW 13 59,864,999 (GRCm39) missense probably damaging 0.99
R6571:Spata31d1b UTSW 13 59,865,269 (GRCm39) missense probably benign
R6980:Spata31d1b UTSW 13 59,863,236 (GRCm39) missense probably benign 0.26
R7047:Spata31d1b UTSW 13 59,860,249 (GRCm39) missense probably damaging 1.00
R7064:Spata31d1b UTSW 13 59,863,955 (GRCm39) missense probably benign
R7147:Spata31d1b UTSW 13 59,866,028 (GRCm39) missense probably benign 0.28
R7273:Spata31d1b UTSW 13 59,865,446 (GRCm39) missense probably benign
R7359:Spata31d1b UTSW 13 59,860,304 (GRCm39) missense probably damaging 1.00
R7457:Spata31d1b UTSW 13 59,864,723 (GRCm39) missense probably damaging 0.99
R7469:Spata31d1b UTSW 13 59,863,278 (GRCm39) missense probably benign 0.04
R7519:Spata31d1b UTSW 13 59,864,726 (GRCm39) missense probably benign 0.43
R7548:Spata31d1b UTSW 13 59,864,468 (GRCm39) missense probably benign
R7586:Spata31d1b UTSW 13 59,866,194 (GRCm39) missense probably damaging 1.00
R7657:Spata31d1b UTSW 13 59,863,577 (GRCm39) missense possibly damaging 0.46
R7778:Spata31d1b UTSW 13 59,865,047 (GRCm39) missense possibly damaging 0.65
R7824:Spata31d1b UTSW 13 59,865,047 (GRCm39) missense possibly damaging 0.65
R7989:Spata31d1b UTSW 13 59,866,182 (GRCm39) missense possibly damaging 0.94
R8078:Spata31d1b UTSW 13 59,863,263 (GRCm39) missense probably damaging 0.99
R8176:Spata31d1b UTSW 13 59,865,117 (GRCm39) missense probably benign
R8530:Spata31d1b UTSW 13 59,864,964 (GRCm39) missense unknown
R8776:Spata31d1b UTSW 13 59,863,283 (GRCm39) missense probably benign 0.00
R8776-TAIL:Spata31d1b UTSW 13 59,863,283 (GRCm39) missense probably benign 0.00
R9385:Spata31d1b UTSW 13 59,863,403 (GRCm39) missense probably damaging 0.99
R9476:Spata31d1b UTSW 13 59,863,467 (GRCm39) missense probably benign 0.08
R9522:Spata31d1b UTSW 13 59,864,780 (GRCm39) missense probably benign 0.00
R9786:Spata31d1b UTSW 13 59,866,155 (GRCm39) missense possibly damaging 0.56
R9789:Spata31d1b UTSW 13 59,860,196 (GRCm39) missense probably benign 0.03
Z1177:Spata31d1b UTSW 13 59,866,674 (GRCm39) missense probably benign 0.17
Z1177:Spata31d1b UTSW 13 59,863,265 (GRCm39) missense probably benign 0.44
Z1177:Spata31d1b UTSW 13 59,860,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCATGAGGAGCTTCAGTC -3'
(R):5'- TGTATTCCAAGCACTGCATCTC -3'

Sequencing Primer
(F):5'- ATGAGGAGCTTCAGTCTTCCCTG -3'
(R):5'- GTATTCCAAGCACTGCATCTCAGAAG -3'
Posted On 2016-07-06