Incidental Mutation 'R5123:Atp6ap1l'
ID393414
Institutional Source Beutler Lab
Gene Symbol Atp6ap1l
Ensembl Gene ENSMUSG00000078958
Gene NameATPase, H+ transporting, lysosomal accessory protein 1-like
SynonymsEG435376
MMRRC Submission 042711-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R5123 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location90883433-90905355 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 90898898 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000109541] [ENSMUST00000182446]
Predicted Effect probably benign
Transcript: ENSMUST00000109541
SMART Domains Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958

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 probably benign
Transcript: ENSMUST00000183162
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,384,460 G542D possibly damaging Het
Adh6b A G 3: 138,357,689 Y343C probably damaging Het
Adsl T A 15: 80,952,294 probably null Het
Apob T A 12: 8,007,630 probably null Het
Cacnb3 A G 15: 98,639,869 D74G probably damaging Het
Clca3a2 T A 3: 144,806,343 D544V probably damaging Het
Col3a1 G A 1: 45,333,596 probably benign Het
D7Ertd443e A G 7: 134,349,668 probably null Het
Dscam T C 16: 96,772,437 D775G probably damaging Het
Eif2b3 T A 4: 117,022,211 M16K probably damaging Het
Eml5 T C 12: 98,874,512 Y281C probably damaging Het
Epha2 T A 4: 141,308,865 L204Q possibly damaging Het
Filip1l A C 16: 57,570,662 I538L possibly damaging Het
Gcnt2 T A 13: 40,918,355 V158D probably damaging Het
Gnaq A G 19: 16,332,085 N162S probably benign Het
Haus5 A T 7: 30,654,226 N575K probably benign Het
Hjurp A T 1: 88,275,050 Y71N possibly damaging Het
Igsf5 A G 16: 96,373,079 D103G probably damaging Het
Myo10 A G 15: 25,726,483 D297G possibly damaging Het
Net1 C T 13: 3,886,623 R314H probably damaging Het
Olfr1273-ps C A 2: 90,296,168 R231L probably benign Het
Olfr1301 T A 2: 111,754,552 V101D probably damaging Het
Pcsk4 C A 10: 80,322,145 Q586H probably null Het
Pramef6 A T 4: 143,897,136 M156K probably benign Het
Prss1 A G 6: 41,463,197 D156G possibly damaging Het
Rnf133 A T 6: 23,649,260 N266K probably damaging Het
Setd2 G T 9: 110,617,527 A2482S possibly damaging Het
Sgo2a A T 1: 58,016,567 S637C probably damaging Het
Slc2a5 C A 4: 150,139,805 S290* probably null Het
Spata6 T G 4: 111,768,795 H120Q possibly damaging Het
Stk11 G A 10: 80,127,941 V194I probably damaging Het
Tkt T C 14: 30,565,646 V199A probably benign Het
Traf3 G A 12: 111,243,518 V183M possibly damaging Het
Trappc11 T C 8: 47,513,402 Y483C probably damaging Het
Trappc9 T C 15: 72,913,366 probably benign Het
Trim59 T C 3: 69,037,734 H91R probably benign Het
Ttc21a A G 9: 119,952,212 S484G probably benign Het
Usp13 A T 3: 32,915,798 H691L probably benign Het
Vmn1r238 T C 18: 3,123,243 Y57C probably benign Het
Vmn2r111 T A 17: 22,571,143 Q294L possibly damaging Het
Vmn2r17 A G 5: 109,427,908 D215G possibly damaging Het
Wdr66 A G 5: 123,273,633 probably benign Het
Zfp280b A G 10: 76,039,349 D354G probably benign Het
Zfp607a A G 7: 27,879,098 H531R probably damaging Het
Zfp74 A T 7: 29,934,733 C517S probably damaging Het
Other mutations in Atp6ap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Atp6ap1l APN 13 90899525 missense probably benign 0.00
R0545:Atp6ap1l UTSW 13 90883663 missense probably benign 0.03
R1224:Atp6ap1l UTSW 13 90886556 nonsense probably null
R1425:Atp6ap1l UTSW 13 90899519 missense possibly damaging 0.69
R1453:Atp6ap1l UTSW 13 90898747 missense probably benign 0.36
R1784:Atp6ap1l UTSW 13 90905281 missense probably damaging 0.96
R1853:Atp6ap1l UTSW 13 90883588 missense probably damaging 1.00
R1854:Atp6ap1l UTSW 13 90883588 missense probably damaging 1.00
R1932:Atp6ap1l UTSW 13 90883687 missense probably damaging 1.00
R4127:Atp6ap1l UTSW 13 90898707 missense probably damaging 0.98
R5352:Atp6ap1l UTSW 13 90883756 missense probably damaging 1.00
R5746:Atp6ap1l UTSW 13 90883579 missense probably benign
R6492:Atp6ap1l UTSW 13 90883722 missense probably damaging 1.00
R6687:Atp6ap1l UTSW 13 90886723 missense probably benign 0.09
R7150:Atp6ap1l UTSW 13 90883729 missense probably damaging 1.00
R7358:Atp6ap1l UTSW 13 90883807 missense probably damaging 1.00
R7595:Atp6ap1l UTSW 13 90891016 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTAGAGTTGCCAGTGTCC -3'
(R):5'- ATTATCTGGGAACTCACTGCTC -3'

Sequencing Primer
(F):5'- GTCCACTGTAGTATTCTGACCAAGTG -3'
(R):5'- GGGAACTCACTGCTCTCTCCTG -3'
Posted On2016-06-15