Incidental Mutation 'IGL02679:Atp6v1h'
| ID |
303281 |
| 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 # |
IGL02679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
5153201-5233438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5194525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 235
(C235R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044369]
[ENSMUST00000192698]
[ENSMUST00000192847]
|
| AlphaFold |
Q8BVE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044369
AA Change: C235R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: C235R
| 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 damaging
Transcript: ENSMUST00000192698
AA Change: C217R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: C217R
| 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 damaging
Transcript: ENSMUST00000192847
AA Change: C235R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: C235R
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930442H23Rik |
T |
A |
10: 81,018,813 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,296,542 (GRCm39) |
Y302N |
probably damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,612,132 (GRCm39) |
Y70N |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,601,349 (GRCm39) |
P190S |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,804,023 (GRCm39) |
L2049P |
probably benign |
Het |
| Capn2 |
T |
A |
1: 182,300,149 (GRCm39) |
I614F |
probably benign |
Het |
| Ccdc126 |
T |
A |
6: 49,310,995 (GRCm39) |
M1K |
probably null |
Het |
| Cdh9 |
T |
C |
15: 16,832,316 (GRCm39) |
I401T |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,605,382 (GRCm39) |
E121G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,194,386 (GRCm39) |
I2276T |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,559,239 (GRCm39) |
S490P |
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,060,650 (GRCm39) |
V731I |
possibly damaging |
Het |
| Dynlt2b |
T |
C |
16: 32,244,125 (GRCm39) |
V107A |
possibly damaging |
Het |
| Fgf3 |
C |
A |
7: 144,394,487 (GRCm39) |
N100K |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,566,553 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
C |
T |
3: 67,382,100 (GRCm39) |
P725S |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,429 (GRCm39) |
C61* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,758,724 (GRCm39) |
R664Q |
probably damaging |
Het |
| Kpnb1 |
T |
A |
11: 97,068,086 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,835,410 (GRCm39) |
E1577G |
probably benign |
Het |
| Lrrk1 |
C |
T |
7: 65,924,620 (GRCm39) |
V235M |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,499,149 (GRCm39) |
D114E |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,352,829 (GRCm39) |
V56E |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,442,621 (GRCm39) |
I1927V |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,966,784 (GRCm39) |
N223K |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,325,037 (GRCm39) |
M2542T |
probably benign |
Het |
| Nolc1 |
C |
A |
19: 46,071,468 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
G |
A |
1: 172,784,743 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or51h1 |
A |
G |
7: 102,308,384 (GRCm39) |
M119V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,393,441 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,067,316 (GRCm39) |
C306S |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,717,320 (GRCm39) |
M1821L |
possibly damaging |
Het |
| Rabl3 |
C |
T |
16: 37,362,287 (GRCm39) |
S42L |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,827,137 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,356,098 (GRCm39) |
M312V |
possibly damaging |
Het |
| Slc10a2 |
T |
A |
8: 5,148,499 (GRCm39) |
T149S |
probably damaging |
Het |
| Spata21 |
T |
C |
4: 140,838,576 (GRCm39) |
|
probably benign |
Het |
| Stx8 |
G |
T |
11: 67,860,598 (GRCm39) |
W6C |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,877,504 (GRCm39) |
E48G |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
| Tmem255b |
G |
A |
8: 13,507,055 (GRCm39) |
M240I |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,186,445 (GRCm39) |
E651K |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,002,558 (GRCm39) |
T1498A |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,116 (GRCm39) |
C445Y |
probably damaging |
Het |
| Zfp429 |
T |
A |
13: 67,547,855 (GRCm39) |
|
probably benign |
Het |
| Zfp804b |
T |
G |
5: 6,821,392 (GRCm39) |
D557A |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation