Incidental Mutation 'R8414:Spata31e1'
ID 652850
Institutional Source Beutler Lab
Gene Symbol Spata31e1
Ensembl Gene ENSMUSG00000114073
Gene Name spermatogenesis associated 31 subfamily E member 1
Synonyms Gm30302
MMRRC Submission 067768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R8414 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49938173-49943728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49941273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 56 (S56P)
Ref Sequence ENSEMBL: ENSMUSP00000152580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000220773] [ENSMUST00000223497]
AlphaFold A0A1Y7VN40
Predicted Effect probably damaging
Transcript: ENSMUST00000220773
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223497
AA Change: S56P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 T C 2: 122,480,237 (GRCm39) Y33H probably damaging Het
Abcc10 T C 17: 46,623,273 (GRCm39) R880G probably benign Het
Abcg2 T A 6: 58,646,221 (GRCm39) Y246N probably benign Het
Abhd18 A G 3: 40,888,061 (GRCm39) M302V probably benign Het
Ablim2 A G 5: 36,032,235 (GRCm39) D568G possibly damaging Het
Alpk2 T C 18: 65,440,542 (GRCm39) R284G possibly damaging Het
AU021092 T C 16: 5,034,649 (GRCm39) Y191C probably damaging Het
Bdp1 T A 13: 100,200,985 (GRCm39) T751S probably benign Het
Brme1 A T 8: 84,893,952 (GRCm39) E373V probably damaging Het
Ccdc136 A G 6: 29,412,929 (GRCm39) E438G probably damaging Het
Cul2 C A 18: 3,399,912 (GRCm39) N15K probably benign Het
Eml2 C A 7: 18,913,220 (GRCm39) Q73K probably damaging Het
Epha6 C A 16: 59,826,030 (GRCm39) R588S probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxw28 C T 9: 109,155,604 (GRCm39) W389* probably null Het
Fcgbpl1 T A 7: 27,842,158 (GRCm39) C698S probably damaging Het
Gbp4 A T 5: 105,284,703 (GRCm39) V62E probably benign Het
Gtf2h1 C A 7: 46,464,768 (GRCm39) T401K possibly damaging Het
Hif1a G T 12: 73,984,428 (GRCm39) M294I probably benign Het
Irak2 A G 6: 113,663,903 (GRCm39) N484S probably benign Het
Kcnj16 A G 11: 110,916,441 (GRCm39) T368A probably benign Het
Kcnq1 G A 7: 142,917,403 (GRCm39) G588D probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Nckap5 T G 1: 125,942,357 (GRCm39) E1582D probably damaging Het
Nrip3 A G 7: 109,362,735 (GRCm39) I183T possibly damaging Het
Or10g9 T A 9: 39,912,241 (GRCm39) H94L probably benign Het
Or4c117 A G 2: 88,956,058 (GRCm39) F6L probably benign Het
Pcdha2 C T 18: 37,074,619 (GRCm39) S750L probably damaging Het
Pik3r2 T C 8: 71,223,079 (GRCm39) Y447C probably damaging Het
Poteg T C 8: 27,938,068 (GRCm39) Y75H probably benign Het
Proser1 G C 3: 53,385,977 (GRCm39) G620R probably damaging Het
Prpsap1 A T 11: 116,369,439 (GRCm39) L164H probably damaging Het
Rfc3 A T 5: 151,568,381 (GRCm39) V195E possibly damaging Het
Sarm1 A T 11: 78,378,794 (GRCm39) V417D probably damaging Het
She A G 3: 89,739,174 (GRCm39) T122A probably benign Het
Srpra A G 9: 35,126,133 (GRCm39) E442G probably benign Het
Sult2a6 T A 7: 13,984,357 (GRCm39) R124S probably damaging Het
Synm T C 7: 67,383,511 (GRCm39) T1384A probably benign Het
Tenm3 A G 8: 48,746,544 (GRCm39) V1087A probably damaging Het
Ticam1 T A 17: 56,578,340 (GRCm39) I252L probably benign Het
Trbv31 C A 6: 41,534,697 (GRCm39) D89Y possibly damaging Het
Trpc7 G A 13: 56,970,282 (GRCm39) T434I probably benign Het
Tubgcp4 T A 2: 121,024,634 (GRCm39) I603N probably benign Het
Ugt3a1 A G 15: 9,310,669 (GRCm39) N317S possibly damaging Het
Vdac1 C T 11: 52,267,330 (GRCm39) T77I possibly damaging Het
Vmn2r113 A T 17: 23,177,753 (GRCm39) R846* probably null Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zranb2 G T 3: 157,252,312 (GRCm39) R310S unknown Het
Other mutations in Spata31e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6813:Spata31e1 UTSW 13 49,940,872 (GRCm39) missense probably benign 0.03
R7638:Spata31e1 UTSW 13 49,940,451 (GRCm39) missense probably benign 0.02
R7881:Spata31e1 UTSW 13 49,943,547 (GRCm39) missense possibly damaging 0.83
R8097:Spata31e1 UTSW 13 49,943,676 (GRCm39) start codon destroyed probably benign 0.02
R8113:Spata31e1 UTSW 13 49,939,548 (GRCm39) missense probably benign 0.18
R8537:Spata31e1 UTSW 13 49,940,108 (GRCm39) missense possibly damaging 0.62
R8787:Spata31e1 UTSW 13 49,938,704 (GRCm39) missense probably damaging 0.97
R8864:Spata31e1 UTSW 13 49,940,988 (GRCm39) missense probably benign 0.18
R8973:Spata31e1 UTSW 13 49,941,715 (GRCm39) missense probably benign 0.00
R8974:Spata31e1 UTSW 13 49,939,556 (GRCm39) missense probably benign 0.00
R9060:Spata31e1 UTSW 13 49,940,087 (GRCm39) missense probably damaging 0.97
R9162:Spata31e1 UTSW 13 49,939,310 (GRCm39) missense possibly damaging 0.66
R9371:Spata31e1 UTSW 13 49,939,052 (GRCm39) missense unknown
R9399:Spata31e1 UTSW 13 49,940,175 (GRCm39) missense possibly damaging 0.89
R9778:Spata31e1 UTSW 13 49,939,542 (GRCm39) missense possibly damaging 0.59
R9782:Spata31e1 UTSW 13 49,939,542 (GRCm39) missense possibly damaging 0.59
Z1176:Spata31e1 UTSW 13 49,941,324 (GRCm39) missense probably damaging 1.00
Z1176:Spata31e1 UTSW 13 49,939,938 (GRCm39) missense possibly damaging 0.79
Z1176:Spata31e1 UTSW 13 49,938,860 (GRCm39) missense possibly damaging 0.90
Z1177:Spata31e1 UTSW 13 49,940,651 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CCAAGTTGATGGGGTAATGGC -3'
(R):5'- GCCATGTTCATGCAGACGAATG -3'

Sequencing Primer
(F):5'- GGCTGGGCCTGGGAAAG -3'
(R):5'- GAACCTCTGCTTGGGTCTGAC -3'
Posted On 2020-10-20