Incidental Mutation 'IGL01545:Atp6v1h'
| ID |
90311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp6v1h
|
| Ensembl Gene |
ENSMUSG00000033793 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit H |
| Synonyms |
0710001F19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
5153201-5233438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5159282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BVE3 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
| Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
| D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
| Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
| Fcer2a |
G |
A |
8: 3,733,598 (GRCm39) |
R198* |
probably null |
Het |
| Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
| Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc6 |
T |
G |
14: 118,202,242 (GRCm39) |
L484R |
probably damaging |
Het |
| Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
T |
A |
1: 89,973,364 (GRCm39) |
M803L |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
| Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
| Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
| Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
| Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
| Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
| Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
| Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
| Tgm5 |
G |
T |
2: 120,883,289 (GRCm39) |
R351S |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
| Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
A |
2: 146,880,099 (GRCm39) |
I474K |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
probably damaging |
Het |
|
| Other mutations in Atp6v1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Atp6v1h
|
APN |
1 |
5,194,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00984:Atp6v1h
|
APN |
1 |
5,165,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Atp6v1h
|
APN |
1 |
5,220,206 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02317:Atp6v1h
|
APN |
1 |
5,154,693 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02679:Atp6v1h
|
APN |
1 |
5,194,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02944:Atp6v1h
|
APN |
1 |
5,163,578 (GRCm39) |
splice site |
probably benign |
|
|
IGL03119:Atp6v1h
|
APN |
1 |
5,165,892 (GRCm39) |
missense |
probably benign |
0.34 |
|
F5770:Atp6v1h
|
UTSW |
1 |
5,194,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0055:Atp6v1h
|
UTSW |
1 |
5,154,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0055:Atp6v1h
|
UTSW |
1 |
5,154,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0727:Atp6v1h
|
UTSW |
1 |
5,154,781 (GRCm39) |
nonsense |
probably null |
|
|
R1452:Atp6v1h
|
UTSW |
1 |
5,168,360 (GRCm39) |
unclassified |
probably benign |
|
|
R1465:Atp6v1h
|
UTSW |
1 |
5,165,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Atp6v1h
|
UTSW |
1 |
5,165,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Atp6v1h
|
UTSW |
1 |
5,187,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Atp6v1h
|
UTSW |
1 |
5,168,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4687:Atp6v1h
|
UTSW |
1 |
5,203,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Atp6v1h
|
UTSW |
1 |
5,165,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Atp6v1h
|
UTSW |
1 |
5,206,112 (GRCm39) |
nonsense |
probably null |
|
|
R5843:Atp6v1h
|
UTSW |
1 |
5,232,312 (GRCm39) |
splice site |
probably null |
|
|
R7037:Atp6v1h
|
UTSW |
1 |
5,220,215 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7505:Atp6v1h
|
UTSW |
1 |
5,194,561 (GRCm39) |
missense |
probably benign |
|
|
R9098:Atp6v1h
|
UTSW |
1 |
5,163,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Atp6v1h
|
UTSW |
1 |
5,220,284 (GRCm39) |
missense |
probably null |
0.40 |
|
R9348:Atp6v1h
|
UTSW |
1 |
5,187,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7580:Atp6v1h
|
UTSW |
1 |
5,194,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
V7581:Atp6v1h
|
UTSW |
1 |
5,194,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
V7582:Atp6v1h
|
UTSW |
1 |
5,194,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
V7583:Atp6v1h
|
UTSW |
1 |
5,194,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Atp6v1h
|
UTSW |
1 |
5,168,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Atp6v1h
|
UTSW |
1 |
5,165,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation