Incidental Mutation 'R4512:Atp6v1h'
| ID |
331240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6v1h
|
| Ensembl Gene |
ENSMUSG00000033793 |
| Gene Name |
ATPase, H+ transporting, lysosomal V1 subunit H |
| Synonyms |
0710001F19Rik |
| MMRRC Submission |
041587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4512 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| 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 5168358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044369]
[ENSMUST00000192029]
[ENSMUST00000192698]
[ENSMUST00000192698]
[ENSMUST00000192847]
[ENSMUST00000194676]
|
| 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 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 |
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: 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194676
|
| SMART Domains |
Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_H_N
|
17 |
140 |
4.9e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,978,573 (GRCm39) |
D573V |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,120 (GRCm39) |
|
probably benign |
Het |
| Aopep |
A |
T |
13: 63,304,481 (GRCm39) |
T497S |
probably damaging |
Het |
| Aup1 |
C |
T |
6: 83,033,368 (GRCm39) |
R248* |
probably null |
Het |
| BC016579 |
C |
A |
16: 45,453,363 (GRCm39) |
A151S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,259 (GRCm39) |
D799G |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,155,399 (GRCm39) |
R739W |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,085,009 (GRCm39) |
C553* |
probably null |
Het |
| Fhl4 |
A |
G |
10: 84,934,578 (GRCm39) |
S68P |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,419,208 (GRCm39) |
E375G |
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Hspbap1 |
C |
T |
16: 35,607,611 (GRCm39) |
S39F |
probably damaging |
Het |
| Lmln |
G |
A |
16: 32,908,507 (GRCm39) |
R311Q |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,829,682 (GRCm39) |
V24D |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,996,871 (GRCm39) |
T225A |
probably damaging |
Het |
| Mark1 |
C |
A |
1: 184,639,286 (GRCm39) |
R577L |
probably benign |
Het |
| Mlxip |
G |
T |
5: 123,533,128 (GRCm39) |
V46L |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,308 (GRCm39) |
D134G |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,532,860 (GRCm39) |
Y1300C |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,315 (GRCm39) |
D219G |
probably damaging |
Het |
| Nfkbie |
C |
T |
17: 45,867,165 (GRCm39) |
S100L |
probably benign |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,109 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,453 (GRCm39) |
L104F |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,625 (GRCm39) |
F284L |
probably benign |
Het |
| Parg |
T |
C |
14: 31,984,693 (GRCm39) |
V241A |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,736,802 (GRCm39) |
|
probably null |
Het |
| Psd4 |
C |
T |
2: 24,292,901 (GRCm39) |
R684C |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,432,902 (GRCm39) |
|
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,936,060 (GRCm39) |
S250P |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,561,909 (GRCm39) |
Y272N |
unknown |
Het |
| Selplg |
A |
G |
5: 113,957,124 (GRCm39) |
V394A |
probably benign |
Het |
| Senp7 |
T |
G |
16: 55,986,246 (GRCm39) |
F559V |
probably damaging |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Smim3 |
A |
T |
18: 60,608,556 (GRCm39) |
V32D |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,109,270 (GRCm39) |
D47G |
probably damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,962,211 (GRCm39) |
|
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,329,491 (GRCm39) |
L646Q |
possibly damaging |
Het |
| Tmprss11a |
A |
G |
5: 86,576,437 (GRCm39) |
V138A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,728,969 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,814 (GRCm39) |
K15033E |
probably damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,755,749 (GRCm39) |
D173Y |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Vamp4 |
A |
T |
1: 162,405,457 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r78 |
C |
T |
7: 86,569,452 (GRCm39) |
S115F |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAGTGATTTACAAGAGCTGTC -3'
(R):5'- CAGAAGGTTTGAGTTGTAGCCAG -3'
Sequencing Primer
(F):5'- AGCTGTCTCTTAAAGTATAGGATGTG -3'
(R):5'- TTTGAGTTGTAGCCAGTGAAAGAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation