Incidental Mutation 'R7675:Spata31f3'
ID 592413
Institutional Source Beutler Lab
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
MMRRC Submission 045706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7675 (G1)
Quality Score 112.474
Status Not validated
Chromosome 4
Chromosomal Location 42868004-42874234 bp(-) (GRCm39)
Type of Mutation small deletion (11 aa in frame mutation)
DNA Base Change (assembly) TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG to TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG at 42871823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]
AlphaFold Q80YD3
Predicted Effect probably benign
Transcript: ENSMUST00000055944
SMART Domains Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 51 139 2.7e-31 PFAM
internal_repeat_1 147 168 5.83e-10 PROSPERO
internal_repeat_1 180 201 5.83e-10 PROSPERO
low complexity region 278 289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107978
SMART Domains Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 138 3.4e-28 PFAM
internal_repeat_1 147 168 5.79e-10 PROSPERO
internal_repeat_1 180 201 5.79e-10 PROSPERO
low complexity region 278 289 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (28/29)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik T C 5: 93,361,233 (GRCm39) S96P unknown Het
Acaca A G 11: 84,206,742 (GRCm39) E1534G probably benign Het
Adam7 A T 14: 68,737,302 (GRCm39) D773E probably benign Het
Cacna1s T A 1: 136,038,612 (GRCm39) I1398N probably damaging Het
Calu C T 6: 29,356,516 (GRCm39) T14I probably benign Het
Casp8 A G 1: 58,863,106 (GRCm39) D2G possibly damaging Het
Cldn1 T C 16: 26,190,261 (GRCm39) N39S probably benign Het
Clspn T C 4: 126,460,113 (GRCm39) S447P probably benign Het
Eef2k A G 7: 120,457,727 (GRCm39) T29A probably benign Het
Gm5519 G C 19: 33,802,428 (GRCm39) G157A probably benign Het
Gucy2c A G 6: 136,693,030 (GRCm39) V723A possibly damaging Het
Ighv1-69 A T 12: 115,587,209 (GRCm39) W3R probably damaging Het
Inava G T 1: 136,143,741 (GRCm39) A565E probably benign Het
Krtap16-1 A G 11: 99,876,259 (GRCm39) C382R possibly damaging Het
Lrrc8a G A 2: 30,145,680 (GRCm39) D165N probably damaging Het
Mideas G T 12: 84,220,574 (GRCm39) P127T probably damaging Het
Naaladl2 T A 3: 24,605,816 (GRCm39) M148L probably benign Het
Nphp3 A T 9: 103,893,287 (GRCm39) E424D probably benign Het
Prpf40a T C 2: 53,035,648 (GRCm39) K714R possibly damaging Het
Ptpn23 A T 9: 110,216,094 (GRCm39) L1254* probably null Het
Sap30l A G 11: 57,700,867 (GRCm39) K174E probably damaging Het
Serpinb9d C T 13: 33,386,759 (GRCm39) Q276* probably null Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Tex14 A G 11: 87,400,504 (GRCm39) D432G probably damaging Het
Tmsb10b A T 7: 24,561,784 (GRCm39) T28S probably benign Het
Unc119 G A 11: 78,234,423 (GRCm39) G11R probably damaging Het
Usp36 A G 11: 118,154,522 (GRCm39) V965A probably benign Het
Vmn2r4 A T 3: 64,322,657 (GRCm39) Y21N probably benign Het
Zbtb38 G T 9: 96,567,594 (GRCm39) D1163E probably benign Het
Zfp62 A G 11: 49,106,847 (GRCm39) I313V possibly damaging Het
Zfp980 C T 4: 145,428,164 (GRCm39) Q298* probably null Het
Other mutations in Spata31f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Spata31f3 APN 4 42,868,564 (GRCm39) missense probably benign 0.40
IGL01697:Spata31f3 APN 4 42,874,163 (GRCm39) missense probably benign
IGL02413:Spata31f3 APN 4 42,868,549 (GRCm39) missense probably damaging 0.99
IGL02450:Spata31f3 APN 4 42,874,127 (GRCm39) missense probably benign
R0433:Spata31f3 UTSW 4 42,874,013 (GRCm39) splice site probably benign
R1580:Spata31f3 UTSW 4 42,874,020 (GRCm39) splice site probably null
R2042:Spata31f3 UTSW 4 42,874,030 (GRCm39) missense possibly damaging 0.96
R2102:Spata31f3 UTSW 4 42,868,558 (GRCm39) missense probably benign 0.00
R3824:Spata31f3 UTSW 4 42,873,492 (GRCm39) critical splice donor site probably null
R4192:Spata31f3 UTSW 4 42,874,185 (GRCm39) utr 5 prime probably benign
R4668:Spata31f3 UTSW 4 42,871,608 (GRCm39) missense probably benign 0.00
R4690:Spata31f3 UTSW 4 42,873,032 (GRCm39) splice site probably null
R5743:Spata31f3 UTSW 4 42,873,087 (GRCm39) missense probably damaging 0.99
R5868:Spata31f3 UTSW 4 42,871,711 (GRCm39) missense probably damaging 0.96
R6186:Spata31f3 UTSW 4 42,872,000 (GRCm39) missense possibly damaging 0.95
R6778:Spata31f3 UTSW 4 42,868,522 (GRCm39) missense possibly damaging 0.94
R6986:Spata31f3 UTSW 4 42,868,696 (GRCm39) missense possibly damaging 0.90
R7318:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7413:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7785:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R7842:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R8125:Spata31f3 UTSW 4 42,873,051 (GRCm39) missense probably damaging 0.99
R8808:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R8954:Spata31f3 UTSW 4 42,871,753 (GRCm39) missense probably damaging 0.98
R9343:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
R9620:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
RF040:Spata31f3 UTSW 4 42,871,823 (GRCm39) small deletion probably benign
X0052:Spata31f3 UTSW 4 42,874,047 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TCCTGGAACGCATTTGACCC -3'
(R):5'- AGACCTCTTCCAGTCTACTGAG -3'

Sequencing Primer
(F):5'- AACGCATTTGACCCTTGAGG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'
Posted On 2019-11-12