Incidental Mutation 'IGL02657:Spata19'
ID 302407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata19
Ensembl Gene ENSMUSG00000031991
Gene Name spermatogenesis associated 19
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL02657
Quality Score
Chromosome 9
Chromosomal Location 27396800-27401785 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27397980 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000149525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034473] [ENSMUST00000214158] [ENSMUST00000214287]
AlphaFold Q9DAQ9
Predicted Effect probably benign
Transcript: ENSMUST00000034473
AA Change: V94A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034473
Gene: ENSMUSG00000031991
AA Change: V94A

Pfam:SPATA19 25 154 2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214158
AA Change: V37A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214240
Predicted Effect probably benign
Transcript: ENSMUST00000214287
AA Change: V59A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215658
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 (GRCm38) V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 (GRCm38) L680P probably damaging Het
Alox12 A T 11: 70,247,278 (GRCm38) D410E probably benign Het
Amt T A 9: 108,301,380 (GRCm38) V365E probably damaging Het
Ano9 A G 7: 141,107,440 (GRCm38) S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 (GRCm38) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm38) Y338N probably benign Het
Bcr T A 10: 75,154,964 (GRCm38) D767E probably benign Het
Chfr A T 5: 110,154,839 (GRCm38) Q350L probably damaging Het
Cops3 A T 11: 59,830,217 (GRCm38) L124H probably damaging Het
Ddx60 T C 8: 61,984,115 (GRCm38) Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 (GRCm38) probably benign Het
Dym C T 18: 75,082,456 (GRCm38) Q238* probably null Het
Fam126b A T 1: 58,535,402 (GRCm38) W327R probably damaging Het
Fbn1 A T 2: 125,352,025 (GRCm38) C1341S possibly damaging Het
Fryl G T 5: 73,054,860 (GRCm38) N2308K probably benign Het
Gbp2b G T 3: 142,604,112 (GRCm38) R221L probably damaging Het
Gm4070 T C 7: 105,896,765 (GRCm38) K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 (GRCm38) N8S probably benign Het
Ift52 A G 2: 163,045,215 (GRCm38) D379G probably damaging Het
Inhbe C A 10: 127,350,776 (GRCm38) L178F probably damaging Het
Ipo5 T C 14: 120,943,800 (GRCm38) Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 (GRCm38) D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 (GRCm38) V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 (GRCm38) F16L probably damaging Het
Magi2 A G 5: 19,227,583 (GRCm38) K99E probably damaging Het
Me3 A G 7: 89,846,253 (GRCm38) I357M probably benign Het
Med30 A G 15: 52,719,365 (GRCm38) Y66C probably benign Het
Mief2 A T 11: 60,730,957 (GRCm38) S118C probably damaging Het
Mylip A G 13: 45,391,246 (GRCm38) S49G probably benign Het
Ncoa7 T A 10: 30,652,976 (GRCm38) D107V probably damaging Het
Nvl C A 1: 181,106,976 (GRCm38) V655F probably damaging Het
Olfml2b C T 1: 170,681,076 (GRCm38) T501I probably benign Het
Ormdl2 T C 10: 128,820,317 (GRCm38) I40V probably benign Het
Pde6b G T 5: 108,420,276 (GRCm38) probably benign Het
Ralgapa1 A C 12: 55,673,507 (GRCm38) L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 (GRCm38) probably null Het
Sema3c A T 5: 17,576,868 (GRCm38) M1L possibly damaging Het
Sema3c T A 5: 17,662,974 (GRCm38) Y128N probably damaging Het
Sema4b G A 7: 80,217,041 (GRCm38) G255D probably damaging Het
Setd1a C T 7: 127,795,825 (GRCm38) probably benign Het
Sirpb1a A C 3: 15,417,051 (GRCm38) S72R possibly damaging Het
Slu7 T A 11: 43,442,022 (GRCm38) probably null Het
Srrm1 G A 4: 135,325,104 (GRCm38) P658L unknown Het
Suclg1 T A 6: 73,260,521 (GRCm38) V83E probably damaging Het
Syncrip G T 9: 88,456,404 (GRCm38) R536S probably benign Het
Tap2 T C 17: 34,205,458 (GRCm38) V55A probably damaging Het
Tekt4 T C 17: 25,473,758 (GRCm38) I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 (GRCm38) D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 (GRCm38) T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 (GRCm38) I272K probably benign Het
Xpr1 T C 1: 155,290,280 (GRCm38) T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 (GRCm38) T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 (GRCm38) H159L probably damaging Het
Other mutations in Spata19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02824:Spata19 APN 9 27,397,729 (GRCm38) missense possibly damaging 0.86
R4965:Spata19 UTSW 9 27,400,465 (GRCm38) missense probably benign 0.16
R6315:Spata19 UTSW 9 27,400,837 (GRCm38) missense possibly damaging 0.85
R6749:Spata19 UTSW 9 27,397,980 (GRCm38) missense probably benign 0.09
R7583:Spata19 UTSW 9 27,400,433 (GRCm38) missense possibly damaging 0.86
R8417:Spata19 UTSW 9 27,397,970 (GRCm38) missense probably benign
R9072:Spata19 UTSW 9 27,397,728 (GRCm38) missense possibly damaging 0.86
R9768:Spata19 UTSW 9 27,400,448 (GRCm38) missense probably damaging 0.97
Posted On 2015-04-16