Incidental Mutation 'R5171:Spata31e4'
ID 398741
Institutional Source Beutler Lab
Gene Symbol Spata31e4
Ensembl Gene ENSMUSG00000094918
Gene Name spermatogenesis associated 31 subfamily E member 4
Synonyms Gm8765
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 50852348-50857471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50854414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 91 (T91S)
Ref Sequence ENSEMBL: ENSMUSP00000097118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099518]
AlphaFold B7ZWJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099518
AA Change: T91S

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: T91S

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
Pfam:FAM75 95 418 1.1e-15 PFAM
SCOP:d1i5pa1 811 874 9e-3 SMART
Meta Mutation Damage Score 0.3138 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (GRCm39) probably null Het
Other mutations in Spata31e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Spata31e4 APN 13 50,854,414 (GRCm39) missense probably benign 0.18
IGL02452:Spata31e4 APN 13 50,857,113 (GRCm39) missense probably damaging 0.99
IGL02610:Spata31e4 APN 13 50,855,748 (GRCm39) missense possibly damaging 0.91
IGL03171:Spata31e4 APN 13 50,856,388 (GRCm39) missense probably benign 0.23
IGL03369:Spata31e4 APN 13 50,857,200 (GRCm39) missense possibly damaging 0.74
PIT4382001:Spata31e4 UTSW 13 50,855,007 (GRCm39) missense probably damaging 0.99
R0346:Spata31e4 UTSW 13 50,857,346 (GRCm39) missense probably benign 0.12
R1015:Spata31e4 UTSW 13 50,855,664 (GRCm39) missense possibly damaging 0.92
R1054:Spata31e4 UTSW 13 50,856,432 (GRCm39) missense probably benign 0.01
R1102:Spata31e4 UTSW 13 50,857,118 (GRCm39) missense probably benign 0.00
R1519:Spata31e4 UTSW 13 50,854,443 (GRCm39) critical splice donor site probably null
R1628:Spata31e4 UTSW 13 50,856,324 (GRCm39) missense probably benign 0.25
R1754:Spata31e4 UTSW 13 50,855,123 (GRCm39) missense probably damaging 0.98
R4212:Spata31e4 UTSW 13 50,854,388 (GRCm39) missense possibly damaging 0.94
R4672:Spata31e4 UTSW 13 50,857,208 (GRCm39) missense probably benign
R4780:Spata31e4 UTSW 13 50,855,116 (GRCm39) missense probably damaging 0.97
R4794:Spata31e4 UTSW 13 50,857,275 (GRCm39) missense probably benign 0.07
R6240:Spata31e4 UTSW 13 50,855,453 (GRCm39) missense probably damaging 0.97
R6366:Spata31e4 UTSW 13 50,855,972 (GRCm39) missense probably benign 0.01
R6421:Spata31e4 UTSW 13 50,855,987 (GRCm39) missense probably benign 0.35
R6644:Spata31e4 UTSW 13 50,856,071 (GRCm39) missense possibly damaging 0.54
R6678:Spata31e4 UTSW 13 50,855,946 (GRCm39) missense probably benign 0.14
R6788:Spata31e4 UTSW 13 50,857,131 (GRCm39) missense probably damaging 0.99
R7030:Spata31e4 UTSW 13 50,857,019 (GRCm39) missense possibly damaging 0.52
R7513:Spata31e4 UTSW 13 50,856,909 (GRCm39) missense probably benign 0.01
R7681:Spata31e4 UTSW 13 50,856,290 (GRCm39) missense possibly damaging 0.70
R7753:Spata31e4 UTSW 13 50,855,817 (GRCm39) missense probably damaging 1.00
R7794:Spata31e4 UTSW 13 50,856,344 (GRCm39) missense probably damaging 0.98
R7994:Spata31e4 UTSW 13 50,856,900 (GRCm39) missense probably benign 0.04
R8021:Spata31e4 UTSW 13 50,855,130 (GRCm39) missense possibly damaging 0.50
R8858:Spata31e4 UTSW 13 50,855,423 (GRCm39) missense probably benign 0.07
R9027:Spata31e4 UTSW 13 50,857,007 (GRCm39) nonsense probably null
R9037:Spata31e4 UTSW 13 50,856,944 (GRCm39) missense probably benign 0.09
R9047:Spata31e4 UTSW 13 50,856,128 (GRCm39) nonsense probably null
R9065:Spata31e4 UTSW 13 50,856,276 (GRCm39) missense probably benign 0.01
R9476:Spata31e4 UTSW 13 50,856,149 (GRCm39) missense possibly damaging 0.70
R9495:Spata31e4 UTSW 13 50,855,465 (GRCm39) missense possibly damaging 0.82
R9510:Spata31e4 UTSW 13 50,856,149 (GRCm39) missense possibly damaging 0.70
Z1177:Spata31e4 UTSW 13 50,856,180 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGAGATGAGGCCCCTTCATTC -3'
(R):5'- AGGATCAAGAGGCCCATCCATC -3'

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