Incidental Mutation 'IGL01545:Atp6v1h'
ID90311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1h
Ensembl Gene ENSMUSG00000033793
Gene NameATPase, H+ transporting, lysosomal V1 subunit H
Synonyms0710001F19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01545
Quality Score
Status
Chromosome1
Chromosomal Location5070018-5162529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5089059 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 55 (M55K)
Ref Sequence ENSEMBL: ENSMUSP00000141264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192029] [ENSMUST00000192698] [ENSMUST00000192847] [ENSMUST00000194676]
Predicted Effect probably benign
Transcript: ENSMUST00000044369
AA Change: M55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: M55K

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 342 3e-106 PFAM
Pfam:V-ATPase_H_C 348 464 1.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192029
AA Change: M15K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141440
Gene: ENSMUSG00000033793
AA Change: M15K

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 1 77 3.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192142
Predicted Effect probably benign
Transcript: ENSMUST00000192698
AA Change: M55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: M55K

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 324 4.4e-104 PFAM
Pfam:V-ATPase_H_C 329 447 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192847
AA Change: M55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: M55K

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 342 1e-102 PFAM
Pfam:V-ATPase_H_C 332 423 2.7e-25 PFAM
Pfam:Arm_2 339 427 4.6e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194301
Predicted Effect probably benign
Transcript: ENSMUST00000194676
AA Change: M55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793
AA Change: M55K

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 140 4.9e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194978
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Dusp2 A G 2: 127,337,775 T313A probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Myod1 A T 7: 46,377,115 E148V probably damaging Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd1 T A 5: 145,159,536 H249L probably damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Rad21l A T 2: 151,655,164 D340E probably benign Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tbx19 T A 1: 165,139,156 N383I possibly damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R probably damaging Het
Other mutations in Atp6v1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Atp6v1h APN 1 5124471 critical splice donor site probably null
IGL00984:Atp6v1h APN 1 5095682 missense probably damaging 1.00
IGL01788:Atp6v1h APN 1 5149983 missense possibly damaging 0.81
IGL02317:Atp6v1h APN 1 5084470 missense possibly damaging 0.95
IGL02679:Atp6v1h APN 1 5124302 missense probably damaging 1.00
IGL02944:Atp6v1h APN 1 5093355 splice site probably benign
IGL03119:Atp6v1h APN 1 5095669 missense probably benign 0.34
F5770:Atp6v1h UTSW 1 5124443 missense possibly damaging 0.94
R0055:Atp6v1h UTSW 1 5084454 missense probably benign 0.01
R0055:Atp6v1h UTSW 1 5084454 missense probably benign 0.01
R0727:Atp6v1h UTSW 1 5084558 nonsense probably null
R1452:Atp6v1h UTSW 1 5098137 unclassified probably benign
R1465:Atp6v1h UTSW 1 5095688 missense probably damaging 1.00
R1465:Atp6v1h UTSW 1 5095688 missense probably damaging 1.00
R2273:Atp6v1h UTSW 1 5117476 missense probably damaging 1.00
R4512:Atp6v1h UTSW 1 5098135 critical splice donor site probably null
R4687:Atp6v1h UTSW 1 5133085 missense probably damaging 1.00
R5185:Atp6v1h UTSW 1 5095642 missense probably damaging 1.00
R5628:Atp6v1h UTSW 1 5135889 nonsense probably null
R5843:Atp6v1h UTSW 1 5162089 intron probably null
R7037:Atp6v1h UTSW 1 5149992 missense possibly damaging 0.77
R7505:Atp6v1h UTSW 1 5124338 missense probably benign
V7580:Atp6v1h UTSW 1 5124443 missense possibly damaging 0.94
V7581:Atp6v1h UTSW 1 5124443 missense possibly damaging 0.94
V7582:Atp6v1h UTSW 1 5124443 missense possibly damaging 0.94
V7583:Atp6v1h UTSW 1 5124443 missense possibly damaging 0.94
Z1088:Atp6v1h UTSW 1 5098048 missense probably damaging 1.00
Z1176:Atp6v1h UTSW 1 5095628 missense probably damaging 1.00
Posted On2013-12-03