Incidental Mutation 'R5746:Atp6ap1l'
ID 445794
Institutional Source Beutler Lab
Gene Symbol Atp6ap1l
Ensembl Gene ENSMUSG00000078958
Gene Name ATPase, H+ transporting, lysosomal accessory protein 1-like
Synonyms EG435376
MMRRC Submission 043199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5746 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 91031558-91053478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91031698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 328 (N328S)
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: N328S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: N328S

DomainStartEndE-ValueType
Pfam:Lamp 19 287 2.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182104
Predicted Effect probably benign
Transcript: ENSMUST00000182446
Predicted Effect probably benign
Transcript: ENSMUST00000183162
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 A G 3: 105,815,126 (GRCm39) E292G possibly damaging Het
Ank1 C T 8: 23,606,612 (GRCm39) T1187I probably damaging Het
Ankrd16 T A 2: 11,789,178 (GRCm39) I255K probably damaging Het
Cbln3 A G 14: 56,120,601 (GRCm39) S144P probably damaging Het
Cdh12 T A 15: 21,358,810 (GRCm39) L78Q probably null Het
Cpsf1 C T 15: 76,484,037 (GRCm39) R761H probably benign Het
Cyp2d10 T G 15: 82,289,472 (GRCm39) E213D probably benign Het
Gba2 T C 4: 43,568,465 (GRCm39) probably null Het
Glb1l2 G A 9: 26,708,086 (GRCm39) A29V probably benign Het
Gm11149 C T 9: 49,457,494 (GRCm39) G393S probably damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Kcnma1 T C 14: 23,544,635 (GRCm39) N574S probably damaging Het
Kdm2b A G 5: 123,017,427 (GRCm39) V1099A probably damaging Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Ly6g A T 15: 75,028,596 (GRCm39) N19Y possibly damaging Het
Nexn TCTTCCTTC TCTTC 3: 151,948,513 (GRCm39) probably benign Het
Nod2 T C 8: 89,390,970 (GRCm39) S411P probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ptpn14 G A 1: 189,578,610 (GRCm39) probably null Het
Smg6 G A 11: 75,030,113 (GRCm39) G211E probably damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d15 T C 10: 115,046,184 (GRCm39) S440G probably damaging Het
Tpm2 A G 4: 43,519,731 (GRCm39) V85A possibly damaging Het
Ttf1 G T 2: 28,955,754 (GRCm39) A373S probably damaging Het
Vmn2r11 T A 5: 109,201,560 (GRCm39) T315S probably benign Het
Zcchc14 T C 8: 122,331,378 (GRCm39) probably benign Het
Zfp146 T C 7: 29,861,818 (GRCm39) S75G probably benign Het
Zfp994 A G 17: 22,420,254 (GRCm39) Y232H probably damaging Het
Other mutations in Atp6ap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Atp6ap1l APN 13 91,047,644 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCACTGCCCTAGACCTACCTAG -3'
(R):5'- GCTATTCTGATCGGTCTGGC -3'

Sequencing Primer
(F):5'- TGCCCTAGACCTACCTAGCAAAG -3'
(R):5'- GATCGGTCTGGCCATGTCTC -3'
Posted On 2016-11-21