Incidental Mutation 'IGL02317:Atp6v1h'
| ID |
288070 |
| 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 # |
IGL02317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
5153201-5233438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5154693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 7
(R7L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044369]
[ENSMUST00000192029]
[ENSMUST00000192698]
[ENSMUST00000192847]
[ENSMUST00000194676]
|
| AlphaFold |
Q8BVE3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044369
AA Change: R7L
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: R7L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141440
Gene: ENSMUSG00000033793
| 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 |
possibly damaging
Transcript: ENSMUST00000192698
AA Change: R7L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: R7L
| 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 |
possibly damaging
Transcript: ENSMUST00000192847
AA Change: R7L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: R7L
| 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 |
possibly damaging
Transcript: ENSMUST00000194676
AA Change: R7L
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793
AA Change: R7L
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,780 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,408 (GRCm39) |
N294D |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,933,282 (GRCm39) |
P418S |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,218,587 (GRCm39) |
Q93L |
probably benign |
Het |
| Arhgap22 |
G |
T |
14: 33,081,230 (GRCm39) |
V209L |
probably damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,920,556 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Cep85 |
C |
T |
4: 133,883,122 (GRCm39) |
G256R |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
C |
5: 88,921,942 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,663,279 (GRCm39) |
E1434G |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,334,244 (GRCm39) |
T4824I |
probably damaging |
Het |
| Fam20c |
G |
A |
5: 138,792,115 (GRCm39) |
R404H |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,855 (GRCm39) |
A2611T |
probably benign |
Het |
| Fbxl13 |
C |
T |
5: 21,727,232 (GRCm39) |
C555Y |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,049 (GRCm39) |
R323L |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,298,711 (GRCm39) |
F50L |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,332 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,316,097 (GRCm39) |
H437L |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,074,147 (GRCm39) |
T624A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,833,112 (GRCm39) |
Y1574C |
probably damaging |
Het |
| Lrrc26 |
A |
G |
2: 25,180,314 (GRCm39) |
N105S |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,063,213 (GRCm39) |
T2523K |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,005 (GRCm39) |
I135V |
probably benign |
Het |
| Oma1 |
A |
G |
4: 103,176,234 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
G |
16: 29,433,984 (GRCm39) |
|
probably null |
Het |
| Or13j1 |
T |
C |
4: 43,706,172 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rab11b |
C |
T |
17: 33,968,790 (GRCm39) |
A43T |
probably damaging |
Het |
| Rabl2 |
A |
T |
15: 89,468,492 (GRCm39) |
N133K |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,467,621 (GRCm39) |
V840I |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,854 (GRCm39) |
S1001P |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,415,985 (GRCm39) |
E896G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,389 (GRCm39) |
E859G |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,765 (GRCm39) |
I710T |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,492 (GRCm39) |
T533A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation