Incidental Mutation 'IGL02824:Spata19'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata19
Ensembl Gene ENSMUSG00000031991
Gene Namespermatogenesis associated 19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02824
Quality Score
Chromosomal Location27396800-27401785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27397729 bp
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

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