Incidental Mutation 'IGL03119:Atp6v1h'
| ID |
409904 |
| 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 # |
IGL03119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
5153201-5233438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5165892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 121
(T121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044369]
[ENSMUST00000192029]
[ENSMUST00000192698]
[ENSMUST00000192847]
[ENSMUST00000194676]
|
| AlphaFold |
Q8BVE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044369
AA Change: T121A
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: T121A
| 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 benign
Transcript: ENSMUST00000192698
AA Change: T121A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: T121A
| 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: T121A
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: T121A
| 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: T121A
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793
AA Change: T121A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_H_N
|
17 |
140 |
4.9e-35 |
PFAM |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,764,887 (GRCm39) |
T626A |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,059,051 (GRCm39) |
T319I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,530,492 (GRCm39) |
S5861P |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,581,819 (GRCm39) |
C4742G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,079,057 (GRCm39) |
D93E |
probably damaging |
Het |
| Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
| Cep104 |
A |
C |
4: 154,066,181 (GRCm39) |
K126N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,167,545 (GRCm39) |
E708G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,200,143 (GRCm39) |
Y107C |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 30,169,348 (GRCm39) |
S102P |
probably benign |
Het |
| Eif3e |
A |
C |
15: 43,129,000 (GRCm39) |
S207A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Fyttd1 |
T |
C |
16: 32,721,065 (GRCm39) |
V121A |
probably benign |
Het |
| Gstk1 |
T |
C |
6: 42,226,833 (GRCm39) |
S200P |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,262,333 (GRCm39) |
F244L |
probably null |
Het |
| Ints7 |
T |
C |
1: 191,342,477 (GRCm39) |
V491A |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,216,508 (GRCm39) |
E71* |
probably null |
Het |
| Ltbp3 |
A |
T |
19: 5,807,471 (GRCm39) |
Q1123L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,573,041 (GRCm39) |
V720E |
probably null |
Het |
| Or52ab4 |
A |
G |
7: 102,987,929 (GRCm39) |
I223V |
probably damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,799 (GRCm39) |
I298T |
probably benign |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Peli1 |
T |
C |
11: 21,090,560 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,458 (GRCm39) |
V209A |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,287,825 (GRCm39) |
Y31C |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,794,336 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,119,386 (GRCm39) |
M457V |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,815,381 (GRCm39) |
E1156* |
probably null |
Het |
| Usp53 |
T |
A |
3: 122,755,064 (GRCm39) |
R130S |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,333,852 (GRCm39) |
S193P |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,884,792 (GRCm39) |
I626V |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,898 (GRCm39) |
A307T |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation