Incidental Mutation 'IGL02737:Spata31f1a'
ID 305686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31f1a
Ensembl Gene ENSMUSG00000078721
Gene Name spermatogenesis associated 31 subfamily F member 1A
Synonyms Fam205a1, Gm12429
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02737
Quality Score
Status
Chromosome 4
Chromosomal Location 42848071-42853888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42849431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 908 (L908F)
Ref Sequence ENSEMBL: ENSMUSP00000103613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]
AlphaFold D3YZF6
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107979
AA Change: L908F

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: L908F

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 137 5e-26 PFAM
low complexity region 169 179 N/A INTRINSIC
internal_repeat_1 278 314 8.5e-5 PROSPERO
Pfam:FAM75 409 493 4.3e-10 PFAM
Pfam:FAM75 453 628 1.2e-12 PFAM
low complexity region 1160 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107981
SMART Domains Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

DomainStartEndE-ValueType
Pfam:DUF4599 1 56 1.4e-15 PFAM
low complexity region 87 104 N/A INTRINSIC
Pfam:FAM75 157 279 9.4e-9 PFAM
Pfam:FAM75 322 366 6.1e-10 PFAM
Pfam:FAM75 365 543 8.3e-11 PFAM
low complexity region 882 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,566,904 (GRCm39) H434Q possibly damaging Het
5430401F13Rik A T 6: 131,529,555 (GRCm39) I50L probably benign Het
Ahnak G A 19: 8,981,957 (GRCm39) M1080I probably benign Het
Aoc1 A G 6: 48,884,577 (GRCm39) K540R probably benign Het
Aplp2 T C 9: 31,064,712 (GRCm39) M585V probably benign Het
C3 A G 17: 57,511,281 (GRCm39) L1607P probably benign Het
C6 A G 15: 4,826,396 (GRCm39) K660E probably benign Het
Cabin1 T C 10: 75,549,419 (GRCm39) T1329A probably benign Het
Ccdc141 T A 2: 76,888,268 (GRCm39) N499I probably damaging Het
Cdh5 A G 8: 104,869,560 (GRCm39) D762G probably damaging Het
Cep152 T C 2: 125,428,394 (GRCm39) R746G possibly damaging Het
Cps1 A T 1: 67,187,933 (GRCm39) Q198L probably benign Het
Cstpp1 T A 2: 91,135,142 (GRCm39) Q9L probably damaging Het
Eri3 T C 4: 117,422,057 (GRCm39) F112L probably damaging Het
Fam180a C A 6: 35,290,488 (GRCm39) R165L probably benign Het
Fkbp10 A C 11: 100,313,481 (GRCm39) I252L probably benign Het
Gtf2f1 G T 17: 57,310,918 (GRCm39) Q410K possibly damaging Het
Hmcn1 T C 1: 150,439,579 (GRCm39) Y5535C probably damaging Het
Ifrd2 T A 9: 107,469,369 (GRCm39) D372E probably benign Het
Il3ra A G 14: 14,350,760 (GRCm38) N165S probably benign Het
Kntc1 A G 5: 123,957,183 (GRCm39) N2164S probably benign Het
Krtap19-9a A G 16: 88,721,099 (GRCm39) noncoding transcript Het
Nopchap1 T A 10: 83,200,309 (GRCm39) M90K probably damaging Het
Or12d13 T A 17: 37,647,664 (GRCm39) H153L possibly damaging Het
Pclo T C 5: 14,764,177 (GRCm39) S4217P unknown Het
Ppfibp1 G A 6: 146,928,806 (GRCm39) V798I probably damaging Het
Prune2 A T 19: 17,170,775 (GRCm39) R165* probably null Het
Ptges T C 2: 30,782,698 (GRCm39) Y118C probably damaging Het
Rab11fip5 C A 6: 85,325,540 (GRCm39) G289W probably damaging Het
Rfc1 T C 5: 65,468,506 (GRCm39) D69G possibly damaging Het
Scube1 A G 15: 83,606,044 (GRCm39) probably benign Het
Slc5a6 G A 5: 31,194,511 (GRCm39) P565L probably benign Het
Sncaip C A 18: 53,040,128 (GRCm39) T774K probably benign Het
Specc1l G A 10: 75,082,158 (GRCm39) S535N probably damaging Het
Tbk1 C T 10: 121,395,767 (GRCm39) G442E probably null Het
Thoc7 A T 14: 13,953,443 (GRCm38) M78K possibly damaging Het
Usp15 A G 10: 122,966,937 (GRCm39) F461S probably damaging Het
Vmn2r6 T A 3: 64,463,911 (GRCm39) I308L possibly damaging Het
Zhx2 C A 15: 57,685,663 (GRCm39) T344N probably damaging Het
Other mutations in Spata31f1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Spata31f1a APN 4 42,850,963 (GRCm39) missense probably benign 0.04
IGL01369:Spata31f1a APN 4 42,852,548 (GRCm39) splice site probably null
IGL02951:Spata31f1a APN 4 42,850,696 (GRCm39) missense probably benign 0.03
IGL03190:Spata31f1a APN 4 42,848,362 (GRCm39) missense probably benign 0.20
IGL03407:Spata31f1a APN 4 42,850,528 (GRCm39) missense probably benign 0.00
R0285:Spata31f1a UTSW 4 42,850,236 (GRCm39) missense probably benign 0.00
R0345:Spata31f1a UTSW 4 42,851,116 (GRCm39) missense probably benign 0.00
R0373:Spata31f1a UTSW 4 42,851,161 (GRCm39) missense probably benign 0.00
R0763:Spata31f1a UTSW 4 42,851,238 (GRCm39) missense probably damaging 1.00
R1668:Spata31f1a UTSW 4 42,848,424 (GRCm39) missense probably damaging 0.99
R2406:Spata31f1a UTSW 4 42,851,696 (GRCm39) missense probably benign
R3722:Spata31f1a UTSW 4 42,851,472 (GRCm39) missense probably benign 0.01
R4820:Spata31f1a UTSW 4 42,851,815 (GRCm39) missense probably damaging 1.00
R5168:Spata31f1a UTSW 4 42,851,488 (GRCm39) missense probably damaging 0.99
R6170:Spata31f1a UTSW 4 42,849,345 (GRCm39) missense probably benign 0.00
R6249:Spata31f1a UTSW 4 42,850,528 (GRCm39) missense probably benign 0.00
R6357:Spata31f1a UTSW 4 42,850,393 (GRCm39) missense probably damaging 1.00
R6496:Spata31f1a UTSW 4 42,848,424 (GRCm39) missense probably damaging 0.99
R6894:Spata31f1a UTSW 4 42,850,291 (GRCm39) missense probably benign 0.33
R7079:Spata31f1a UTSW 4 42,851,718 (GRCm39) missense probably benign 0.17
R7881:Spata31f1a UTSW 4 42,851,586 (GRCm39) missense probably benign 0.00
R7904:Spata31f1a UTSW 4 42,850,765 (GRCm39) missense possibly damaging 0.53
R7938:Spata31f1a UTSW 4 42,850,765 (GRCm39) missense possibly damaging 0.53
R8017:Spata31f1a UTSW 4 42,850,840 (GRCm39) missense probably damaging 1.00
R8210:Spata31f1a UTSW 4 42,848,542 (GRCm39) missense probably benign 0.00
R8385:Spata31f1a UTSW 4 42,850,509 (GRCm39) missense possibly damaging 0.80
R8894:Spata31f1a UTSW 4 42,853,688 (GRCm39) missense possibly damaging 0.87
R8981:Spata31f1a UTSW 4 42,849,354 (GRCm39) missense probably benign 0.00
R9448:Spata31f1a UTSW 4 42,850,250 (GRCm39) nonsense probably null
R9488:Spata31f1a UTSW 4 42,850,560 (GRCm39) missense probably benign
Posted On 2015-04-16