Incidental Mutation 'IGL02413:Spata31f3'
ID 292332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31f3
Ensembl Gene ENSMUSG00000050141
Gene Name spermatogenesis associated 31 subfamily F member 3
Synonyms BC049635, Fam205c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02413
Quality Score
Status
Chromosome 4
Chromosomal Location 42868004-42874234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42868549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 358 (D358G)
Ref Sequence ENSEMBL: ENSMUSP00000060318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]
AlphaFold Q80YD3
Predicted Effect probably damaging
Transcript: ENSMUST00000055944
AA Change: D358G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141
AA Change: D358G

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 damaging
Transcript: ENSMUST00000107978
AA Change: D359G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141
AA Change: D359G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144112
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,241,187 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,866,860 (GRCm39) L733P probably benign Het
Aqr G A 2: 113,949,261 (GRCm39) A979V possibly damaging Het
Axin1 A G 17: 26,407,153 (GRCm39) E582G probably benign Het
Catsper1 T C 19: 5,386,264 (GRCm39) S166P possibly damaging Het
Cd248 G T 19: 5,120,201 (GRCm39) G683V probably damaging Het
Celsr1 G T 15: 85,915,427 (GRCm39) Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 (GRCm39) V324F probably benign Het
Ctrc C A 4: 141,571,028 (GRCm39) V71L possibly damaging Het
Exoc3l C A 8: 106,019,070 (GRCm39) D465Y probably damaging Het
Flna T C X: 73,284,888 (GRCm39) E417G probably benign Het
Grm6 T A 11: 50,750,766 (GRCm39) V643D probably damaging Het
Inpp4b A G 8: 82,759,800 (GRCm39) Y615C probably benign Het
Itga3 T C 11: 94,959,597 (GRCm39) Y92C probably damaging Het
Jak3 T C 8: 72,138,763 (GRCm39) probably null Het
Kcnh6 T A 11: 105,918,460 (GRCm39) I823N possibly damaging Het
Klhl38 A T 15: 58,186,417 (GRCm39) V104D probably damaging Het
Lpo C T 11: 87,697,732 (GRCm39) V692M possibly damaging Het
Mnd1 T C 3: 84,023,786 (GRCm39) H100R probably benign Het
Mterf4 A G 1: 93,230,526 (GRCm39) F207L probably damaging Het
Oog3 C A 4: 143,884,721 (GRCm39) W405L probably benign Het
Or2t26 T C 11: 49,039,384 (GRCm39) L100P probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Steap3 T C 1: 120,169,502 (GRCm39) Y265C probably damaging Het
Tcl1 C A 12: 105,185,082 (GRCm39) E43* probably null Het
Terb1 A G 8: 105,221,500 (GRCm39) probably null Het
Tmprss11a T A 5: 86,570,507 (GRCm39) I151F possibly damaging Het
Trappc10 T C 10: 78,046,610 (GRCm39) R430G probably damaging Het
Usp17le T C 7: 104,418,933 (GRCm39) N70D probably benign Het
Vmn1r45 T C 6: 89,910,503 (GRCm39) S36G possibly damaging Het
Vsig8 A C 1: 172,387,943 (GRCm39) Y11S probably damaging Het
Vwa5b2 T A 16: 20,416,851 (GRCm39) L516Q probably damaging 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
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
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
Posted On 2015-04-16