Incidental Mutation 'IGL02823:Atp6ap1l'
ID 361085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6ap1l
Ensembl Gene ENSMUSG00000078958
Gene Name ATPase, H+ transporting, lysosomal accessory protein 1-like
Synonyms EG435376
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02823
Quality Score
Status
Chromosome 13
Chromosomal Location 91031558-91053478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91047644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 56 (V56A)
Ref Sequence ENSEMBL: ENSMUSP00000105168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109541] [ENSMUST00000182446]
AlphaFold D3Z5W0
Predicted Effect probably benign
Transcript: ENSMUST00000109541
AA Change: V56A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: V56A

DomainStartEndE-ValueType
Pfam:Lamp 19 287 2.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182104
Predicted Effect probably benign
Transcript: ENSMUST00000182446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182932
Predicted Effect unknown
Transcript: ENSMUST00000183162
AA Change: V18A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,410,074 (GRCm39) S194P probably damaging Het
Abca7 T A 10: 79,844,656 (GRCm39) D1488E probably damaging Het
Abhd18 A G 3: 40,887,953 (GRCm39) probably benign Het
Atrip A G 9: 108,890,246 (GRCm39) Y631H probably damaging Het
C9orf72 A T 4: 35,213,031 (GRCm39) C215S probably damaging Het
Dst A T 1: 34,231,164 (GRCm39) H3097L possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eif2a G T 3: 58,456,092 (GRCm39) A364S probably benign Het
Eps8l2 A T 7: 140,921,988 (GRCm39) D22V probably damaging Het
Fndc7 A G 3: 108,776,487 (GRCm39) F432S probably damaging Het
Gemin5 T C 11: 58,058,531 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,125,046 (GRCm39) K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 (GRCm39) I713T possibly damaging Het
Hs3st1 A G 5: 39,772,100 (GRCm39) L181P probably damaging Het
Ksr1 C A 11: 78,912,229 (GRCm39) V627L probably benign Het
Lama2 T C 10: 26,877,141 (GRCm39) N2682D probably damaging Het
Lratd2 T C 15: 60,694,972 (GRCm39) D258G probably damaging Het
Map3k19 G T 1: 127,750,001 (GRCm39) H1117N probably benign Het
Mdc1 C T 17: 36,163,815 (GRCm39) A1121V probably damaging Het
Nlrp1a C T 11: 70,983,249 (GRCm39) S1239N probably damaging Het
Or2w3 T C 11: 58,556,793 (GRCm39) M136T possibly damaging Het
Prkra G T 2: 76,460,768 (GRCm39) A310E probably damaging Het
Prl2c1 T C 13: 28,040,416 (GRCm39) probably benign Het
Prl7a2 T C 13: 27,846,734 (GRCm39) Y93C possibly damaging Het
Prob1 A T 18: 35,785,800 (GRCm39) V818E possibly damaging Het
Rbbp8 A G 18: 11,865,270 (GRCm39) S720G possibly damaging Het
Rexo4 T C 2: 26,852,489 (GRCm39) T149A probably benign Het
Slc39a2 T A 14: 52,132,869 (GRCm39) Y271N probably damaging Het
Sprr2d T A 3: 92,247,734 (GRCm39) C58* probably null Het
Srebf2 G A 15: 82,083,975 (GRCm39) G965D possibly damaging Het
Tcof1 T C 18: 60,949,120 (GRCm39) E1265G probably benign Het
Terf2 T C 8: 107,799,257 (GRCm39) N389S possibly damaging Het
Vsig10l T C 7: 43,115,888 (GRCm39) S410P probably damaging Het
Vwa3b A T 1: 37,225,985 (GRCm39) probably benign Het
Other mutations in Atp6ap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0545:Atp6ap1l UTSW 13 91,031,782 (GRCm39) missense probably benign 0.03
R1224:Atp6ap1l UTSW 13 91,034,675 (GRCm39) nonsense probably null
R1425:Atp6ap1l UTSW 13 91,047,638 (GRCm39) missense possibly damaging 0.69
R1453:Atp6ap1l UTSW 13 91,046,866 (GRCm39) missense probably benign 0.36
R1784:Atp6ap1l UTSW 13 91,053,400 (GRCm39) missense probably damaging 0.96
R1853:Atp6ap1l UTSW 13 91,031,707 (GRCm39) missense probably damaging 1.00
R1854:Atp6ap1l UTSW 13 91,031,707 (GRCm39) missense probably damaging 1.00
R1932:Atp6ap1l UTSW 13 91,031,806 (GRCm39) missense probably damaging 1.00
R4127:Atp6ap1l UTSW 13 91,046,826 (GRCm39) missense probably damaging 0.98
R5123:Atp6ap1l UTSW 13 91,047,017 (GRCm39) intron probably benign
R5352:Atp6ap1l UTSW 13 91,031,875 (GRCm39) missense probably damaging 1.00
R5746:Atp6ap1l UTSW 13 91,031,698 (GRCm39) missense probably benign
R6492:Atp6ap1l UTSW 13 91,031,841 (GRCm39) missense probably damaging 1.00
R6687:Atp6ap1l UTSW 13 91,034,842 (GRCm39) missense probably benign 0.09
R7150:Atp6ap1l UTSW 13 91,031,848 (GRCm39) missense probably damaging 1.00
R7358:Atp6ap1l UTSW 13 91,031,926 (GRCm39) missense probably damaging 1.00
R7595:Atp6ap1l UTSW 13 91,039,135 (GRCm39) missense probably damaging 1.00
R8912:Atp6ap1l UTSW 13 91,046,979 (GRCm39) critical splice acceptor site probably null
Posted On 2015-12-18