Incidental Mutation 'R8530:Spata31d1b'
ID 659014
Institutional Source Beutler Lab
Gene Symbol Spata31d1b
Ensembl Gene ENSMUSG00000091311
Gene Name spermatogenesis associated 31 subfamily D, member 1B
Synonyms Gm4934, Fam75d1b
MMRRC Submission 068500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59860098-59867103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59864964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 704 (N704I)
Ref Sequence ENSEMBL: ENSMUSP00000130813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165133]
AlphaFold E9QA57
Predicted Effect unknown
Transcript: ENSMUST00000165133
AA Change: N704I
SMART Domains Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: N704I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G C 3: 137,774,586 (GRCm39) E1258D probably damaging Het
4930407I10Rik T A 15: 81,949,587 (GRCm39) H1161Q probably damaging Het
Adam20 A G 8: 41,249,071 (GRCm39) S394G probably damaging Het
Akr1c12 A T 13: 4,320,160 (GRCm39) F310Y probably benign Het
Ank G A 15: 27,544,490 (GRCm39) A84T probably benign Het
Bcas1 A T 2: 170,229,868 (GRCm39) I244K probably damaging Het
Cacna1a T C 8: 85,339,043 (GRCm39) probably null Het
Car14 T C 3: 95,807,670 (GRCm39) H79R probably benign Het
Cd163 T C 6: 124,295,860 (GRCm39) Y735H probably damaging Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Cfi C T 3: 129,644,382 (GRCm39) T126I possibly damaging Het
Col6a4 T A 9: 105,957,704 (GRCm39) H40L probably benign Het
Dbh A G 2: 27,058,318 (GRCm39) D162G probably damaging Het
Dnah14 A G 1: 181,492,511 (GRCm39) K1657R probably damaging Het
E2f7 T A 10: 110,614,859 (GRCm39) V521D probably benign Het
Eif3g A C 9: 20,809,026 (GRCm39) S93A possibly damaging Het
Fa2h T C 8: 112,082,788 (GRCm39) E143G probably benign Het
Foxc1 C A 13: 31,991,771 (GRCm39) P194Q probably benign Het
Fyco1 A G 9: 123,669,605 (GRCm39) probably null Het
Gabrb3 T C 7: 57,461,819 (GRCm39) S256P probably damaging Het
Gcc1 C A 6: 28,420,730 (GRCm39) D196Y probably damaging Het
Herc1 T A 9: 66,325,910 (GRCm39) D1461E probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hps6 A T 19: 45,991,959 (GRCm39) probably benign Het
Macc1 A T 12: 119,409,474 (GRCm39) I81F probably damaging Het
Man2c1 G T 9: 57,038,922 (GRCm39) D111Y probably damaging Het
Mast3 A T 8: 71,240,877 (GRCm39) I240N possibly damaging Het
Matn1 A T 4: 130,677,447 (GRCm39) K219* probably null Het
Nup210 C G 6: 91,053,627 (GRCm39) A297P possibly damaging Het
Or5d43 A T 2: 88,105,154 (GRCm39) L80I probably damaging Het
Or6d12 T A 6: 116,493,530 (GRCm39) I264K probably damaging Het
Pcare T C 17: 72,059,101 (GRCm39) Y192C probably damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Phactr3 A G 2: 177,925,819 (GRCm39) N360D probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Potefam3a T C 8: 20,356,984 (GRCm38) N242S probably benign Het
Qtrt2 C A 16: 43,689,407 (GRCm39) G197V probably damaging Het
Rabep1 A T 11: 70,810,068 (GRCm39) L500F probably damaging Het
Rhof T A 5: 123,257,581 (GRCm39) D183V probably damaging Het
Shprh T C 10: 11,027,678 (GRCm39) V95A probably benign Het
Tas1r2 A T 4: 139,389,460 (GRCm39) Y452F probably benign Het
Tc2n A T 12: 101,617,444 (GRCm39) F325Y possibly damaging Het
Tiam2 G T 17: 3,501,087 (GRCm39) V909L probably benign Het
Tlx1 A T 19: 45,139,524 (GRCm39) Y57F probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn2r58 A T 7: 41,513,576 (GRCm39) W356R probably damaging Het
Wars1 G A 12: 108,848,818 (GRCm39) A43V probably damaging Het
Wrn A T 8: 33,770,852 (GRCm39) I694N possibly damaging Het
Zfp120 A G 2: 149,959,168 (GRCm39) Y385H probably benign 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
R5169:Spata31d1b UTSW 13 59,864,309 (GRCm39) missense probably damaging 1.00
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
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'- AAAGAACCGGGGACTCTCTTG -3'
(R):5'- ATGTTCACAGAATGCCTCGAC -3'

Sequencing Primer
(F):5'- GGATCACTTTCTTTAAGTACCAAGGC -3'
(R):5'- ACCTATCCACTGTGGTAGGGATC -3'
Posted On 2021-01-18