Incidental Mutation 'IGL00671:Atp6v1h'
| ID |
13311 |
| 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 # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
5153201-5233438 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 5194694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044369]
[ENSMUST00000044369]
[ENSMUST00000192698]
[ENSMUST00000192847]
|
| AlphaFold |
Q8BVE3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044369
|
| SMART Domains |
Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
| 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 null
Transcript: ENSMUST00000044369
|
| SMART Domains |
Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
| 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 null
Transcript: ENSMUST00000192698
|
| SMART Domains |
Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
| 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 null
Transcript: ENSMUST00000192847
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
| 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
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp6v1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Atp6v1h
|
APN |
1 |
5,165,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01545:Atp6v1h
|
APN |
1 |
5,159,282 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation