Incidental Mutation 'IGL02824:Spata19'
ID361119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata19
Ensembl Gene ENSMUSG00000031991
Gene Namespermatogenesis associated 19
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02824
Quality Score
Status
Chromosome9
Chromosomal Location27396800-27401785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27397729 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 54 (I54M)
Ref Sequence ENSEMBL: ENSMUSP00000034473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034473] [ENSMUST00000214158] [ENSMUST00000214287]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034473
AA Change: I54M

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034473
Gene: ENSMUSG00000031991
AA Change: I54M

DomainStartEndE-ValueType
Pfam:SPATA19 25 154 2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214240
Predicted Effect possibly damaging
Transcript: ENSMUST00000214287
AA Change: I19M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215658
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,702,319 probably benign Het
Aadat A T 8: 60,516,022 K93N probably benign Het
Abcb5 A G 12: 118,890,685 F832L probably benign Het
Abl1 A T 2: 31,800,819 K783N probably damaging Het
Agxt2 A G 15: 10,393,805 E423G probably null Het
Alkbh8 T C 9: 3,368,021 probably null Het
Ankrd36 T C 11: 5,574,246 I171T possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Cd19 T C 7: 126,410,654 D446G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cyp4f39 T C 17: 32,468,685 probably null Het
Ehbp1l1 T C 19: 5,719,298 D659G probably benign Het
Eif3l A G 15: 79,075,823 probably null Het
F5 T C 1: 164,194,347 S1464P probably benign Het
Fut9 T C 4: 25,620,037 N259S probably damaging Het
Glb1l3 A T 9: 26,850,109 I209N probably damaging Het
Gpd2 A G 2: 57,364,327 E671G probably null Het
Heatr5b T C 17: 78,773,680 D1381G probably damaging Het
Ifi206 A T 1: 173,481,872 I186K possibly damaging Het
Izumo1 A G 7: 45,625,648 D236G probably benign Het
Klhl32 T A 4: 24,682,237 R149* probably null Het
Lrrn1 T C 6: 107,568,534 F431S possibly damaging Het
Man2b2 C T 5: 36,821,851 V282I probably benign Het
Mboat2 A G 12: 24,946,586 K164R probably benign Het
Mgarp T C 3: 51,389,087 T165A probably damaging Het
Midn T G 10: 80,153,652 I43S possibly damaging Het
Ndn A G 7: 62,348,834 I143V possibly damaging Het
Olfr1099 T C 2: 86,958,993 D155G probably benign Het
Olfr816 T C 10: 129,911,696 E194G probably damaging Het
Pcnx4 T C 12: 72,555,571 V278A probably benign Het
Prr30 A G 14: 101,198,518 F203L probably benign Het
Scd4 T C 19: 44,341,259 L223P probably damaging Het
Setdb1 T C 3: 95,339,904 probably benign Het
Smtn A G 11: 3,532,658 Y105H probably damaging Het
Syk A T 13: 52,623,283 probably benign Het
Trim44 A G 2: 102,400,195 F164L possibly damaging Het
Zfp503 C T 14: 21,985,094 G585S possibly damaging Het
Other mutations in Spata19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Spata19 APN 9 27397980 missense probably benign 0.09
R4965:Spata19 UTSW 9 27400465 missense probably benign 0.16
R6315:Spata19 UTSW 9 27400837 missense possibly damaging 0.85
R6749:Spata19 UTSW 9 27397980 missense probably benign 0.09
R7583:Spata19 UTSW 9 27400433 missense possibly damaging 0.86
Posted On2015-12-18