Incidental Mutation 'R9343:Spata31f3'
ID 707615
Institutional Source Beutler Lab
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9343 (G1)
Quality Score 115.465
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat2 T C 17: 13,167,538 (GRCm39) N166S probably damaging Het
Atp8b2 A T 3: 89,855,811 (GRCm39) F446I possibly damaging Het
Cacna2d3 A T 14: 28,704,315 (GRCm39) M822K possibly damaging Het
Caskin1 A G 17: 24,723,447 (GRCm39) E745G probably damaging Het
Clec4a2 G T 6: 123,104,955 (GRCm39) A82S probably benign Het
Col5a3 T C 9: 20,704,909 (GRCm39) N749S unknown Het
Col9a2 T A 4: 120,911,483 (GRCm39) M608K probably benign Het
Cope T C 8: 70,761,228 (GRCm39) probably null Het
Dennd2d T A 3: 106,397,730 (GRCm39) probably null Het
Dpys T C 15: 39,656,748 (GRCm39) T440A possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln5 G A 12: 101,737,551 (GRCm39) T152I probably damaging Het
Gm16503 A T 4: 147,625,508 (GRCm39) M1L unknown Het
Gm9195 A G 14: 72,717,500 (GRCm39) S278P probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Klhl33 A G 14: 51,133,903 (GRCm39) probably null Het
Lrrk2 A G 15: 91,584,618 (GRCm39) D345G probably benign Het
Man2b2 A G 5: 36,975,951 (GRCm39) L368P probably damaging Het
Med23 T A 10: 24,788,705 (GRCm39) S1371T probably benign Het
Mllt3 T A 4: 87,792,168 (GRCm39) E109D possibly damaging Het
Myom2 G A 8: 15,134,633 (GRCm39) D479N probably damaging Het
Or52r1c A T 7: 102,735,324 (GRCm39) R195* probably null Het
Pcdhga10 G T 18: 37,880,532 (GRCm39) A98S probably benign Het
Pde8a A T 7: 80,950,427 (GRCm39) Q221H probably benign Het
Pkd1l1 T C 11: 8,786,399 (GRCm39) H2335R Het
Pkd1l1 T A 11: 8,911,305 (GRCm39) D324V Het
Pou2f2 G A 7: 24,794,277 (GRCm39) T363I possibly damaging Het
Prlr A G 15: 10,328,988 (GRCm39) I488V probably benign Het
Psmd2 T C 16: 20,475,441 (GRCm39) probably null Het
Rbm7 T C 9: 48,400,969 (GRCm39) D253G probably damaging Het
Ros1 A G 10: 51,972,116 (GRCm39) probably null Het
S1pr3 G T 13: 51,573,553 (GRCm39) V245L probably damaging Het
Sacs A G 14: 61,446,219 (GRCm39) D2755G probably benign Het
Scgn T A 13: 24,173,829 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,966,802 (GRCm39) K715E probably damaging Het
Sox18 T C 2: 181,312,231 (GRCm39) E300G probably damaging Het
Spef2 T A 15: 9,713,190 (GRCm39) N394I probably damaging Het
Strn4 T C 7: 16,573,827 (GRCm39) F759L probably damaging Het
Tas2r144 A T 6: 42,193,066 (GRCm39) I269F probably benign Het
Tpcn1 T C 5: 120,678,737 (GRCm39) D606G possibly damaging Het
Trh A G 6: 92,220,823 (GRCm39) I13T probably benign Het
Umodl1 T C 17: 31,217,701 (GRCm39) I1169T possibly damaging Het
Vwa3b G A 1: 37,153,615 (GRCm39) D486N probably damaging Het
Wars2 T C 3: 99,094,846 (GRCm39) L47P probably benign Het
Zbtb14 A G 17: 69,695,576 (GRCm39) S425G probably damaging Het
Zdhhc16 T C 19: 41,926,549 (GRCm39) S111P probably benign 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
R7675: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
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'- ATCCTGGAACGCATTTGACCC -3'
(R):5'- AGACCTCTTCCAGTCTACTGAGG -3'

Sequencing Primer
(F):5'- AACGCATTTGACCCTTGAGG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'
Posted On 2022-04-18