Incidental Mutation 'IGL03011:Atp9a'
| ID |
407777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168494552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 651
(V651A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029060
AA Change: V651A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: V651A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109175
AA Change: V635A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: V635A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
92 |
352 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
369 |
781 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
372 |
778 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
448 |
563 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109176
AA Change: V709A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: V709A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
97 |
163 |
1.9e-20 |
PFAM |
|
Pfam:E1-E2_ATPase
|
166 |
418 |
5.8e-13 |
PFAM |
|
Pfam:Hydrolase
|
443 |
855 |
2.8e-13 |
PFAM |
|
Pfam:HAD
|
446 |
852 |
2.4e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
522 |
635 |
1.5e-6 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
869 |
1098 |
1.7e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109177
AA Change: V633A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: V633A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
90 |
350 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
367 |
779 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
370 |
776 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
446 |
561 |
3.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178504
AA Change: V651A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: V651A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Apob |
C |
A |
12: 8,047,883 (GRCm39) |
P941Q |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,127,638 (GRCm39) |
|
probably null |
Het |
| Arpc5l |
T |
C |
2: 38,903,730 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
C |
A |
12: 105,592,621 (GRCm39) |
D1745Y |
probably damaging |
Het |
| Ccnyl1 |
T |
C |
1: 64,747,631 (GRCm39) |
I148T |
possibly damaging |
Het |
| Cfap95 |
T |
A |
19: 23,630,017 (GRCm39) |
D25V |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,903,682 (GRCm39) |
W17R |
possibly damaging |
Het |
| Cpne1 |
G |
A |
2: 155,919,917 (GRCm39) |
H244Y |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,650,807 (GRCm39) |
Y618H |
possibly damaging |
Het |
| Csf1r |
T |
C |
18: 61,243,473 (GRCm39) |
I163T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,606 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,370,806 (GRCm39) |
I6N |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,160,244 (GRCm39) |
N44S |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,976,112 (GRCm39) |
C2769Y |
probably benign |
Het |
| Efemp2 |
C |
A |
19: 5,530,093 (GRCm39) |
Q187K |
probably damaging |
Het |
| Elavl3 |
A |
T |
9: 21,947,612 (GRCm39) |
I109N |
probably damaging |
Het |
| Elovl5 |
G |
T |
9: 77,890,066 (GRCm39) |
K292N |
probably benign |
Het |
| Epb41 |
G |
T |
4: 131,731,105 (GRCm39) |
P1T |
probably damaging |
Het |
| Gm44865 |
G |
T |
7: 108,165,007 (GRCm39) |
|
probably benign |
Het |
| Gnat2 |
C |
A |
3: 108,007,368 (GRCm39) |
T262K |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,451,174 (GRCm39) |
C1102R |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,702,540 (GRCm39) |
I951F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,197,927 (GRCm39) |
H258R |
probably damaging |
Het |
| Lnx1 |
G |
A |
5: 74,846,420 (GRCm39) |
P10L |
probably benign |
Het |
| Lrp6 |
G |
A |
6: 134,497,380 (GRCm39) |
S209L |
possibly damaging |
Het |
| Mc3r |
A |
G |
2: 172,091,716 (GRCm39) |
I313V |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,051,859 (GRCm39) |
D468G |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,584,014 (GRCm39) |
S526P |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,400,357 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,525,503 (GRCm39) |
D602G |
possibly damaging |
Het |
| Nol7 |
C |
T |
13: 43,554,769 (GRCm39) |
|
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,364 (GRCm39) |
I174T |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,731 (GRCm39) |
D329G |
probably benign |
Het |
| Pkia |
G |
T |
3: 7,507,142 (GRCm39) |
E75* |
probably null |
Het |
| Pramel26 |
A |
C |
4: 143,538,330 (GRCm39) |
F214V |
possibly damaging |
Het |
| Ptpn14 |
A |
T |
1: 189,571,754 (GRCm39) |
T282S |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 12,219,029 (GRCm38) |
P408S |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,358 (GRCm39) |
I147V |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,997,397 (GRCm39) |
T375A |
possibly damaging |
Het |
| Serpinb11 |
T |
A |
1: 107,307,546 (GRCm39) |
S326T |
probably damaging |
Het |
| Slc18a1 |
T |
C |
8: 69,491,515 (GRCm39) |
T500A |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,350,529 (GRCm39) |
F247L |
possibly damaging |
Het |
| Trav8d-2 |
A |
G |
14: 53,280,218 (GRCm39) |
I69M |
possibly damaging |
Het |
|
| Other mutations in Atp9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Atp9a
|
APN |
2 |
168,482,600 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01594:Atp9a
|
APN |
2 |
168,532,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Atp9a
|
APN |
2 |
168,495,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Atp9a
|
APN |
2 |
168,494,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Atp9a
|
APN |
2 |
168,491,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Atp9a
|
APN |
2 |
168,531,225 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03310:Atp9a
|
APN |
2 |
168,481,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Atp9a
|
UTSW |
2 |
168,552,776 (GRCm39) |
nonsense |
probably null |
|
|
R0194:Atp9a
|
UTSW |
2 |
168,485,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Atp9a
|
UTSW |
2 |
168,482,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0508:Atp9a
|
UTSW |
2 |
168,491,446 (GRCm39) |
splice site |
probably null |
|
|
R1611:Atp9a
|
UTSW |
2 |
168,515,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Atp9a
|
UTSW |
2 |
168,495,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Atp9a
|
UTSW |
2 |
168,481,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Atp9a
|
UTSW |
2 |
168,552,746 (GRCm39) |
splice site |
probably benign |
|
|
R2404:Atp9a
|
UTSW |
2 |
168,517,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2881:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Atp9a
|
UTSW |
2 |
168,531,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Atp9a
|
UTSW |
2 |
168,491,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Atp9a
|
UTSW |
2 |
168,503,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Atp9a
|
UTSW |
2 |
168,523,917 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4583:Atp9a
|
UTSW |
2 |
168,531,280 (GRCm39) |
splice site |
probably null |
|
|
R4626:Atp9a
|
UTSW |
2 |
168,481,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Atp9a
|
UTSW |
2 |
168,479,592 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4679:Atp9a
|
UTSW |
2 |
168,503,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4738:Atp9a
|
UTSW |
2 |
168,510,101 (GRCm39) |
missense |
probably benign |
|
|
R5191:Atp9a
|
UTSW |
2 |
168,503,983 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5216:Atp9a
|
UTSW |
2 |
168,516,808 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5280:Atp9a
|
UTSW |
2 |
168,481,908 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5509:Atp9a
|
UTSW |
2 |
168,481,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Atp9a
|
UTSW |
2 |
168,532,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5807:Atp9a
|
UTSW |
2 |
168,495,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5926:Atp9a
|
UTSW |
2 |
168,548,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Atp9a
|
UTSW |
2 |
168,476,790 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6244:Atp9a
|
UTSW |
2 |
168,531,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6307:Atp9a
|
UTSW |
2 |
168,510,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6345:Atp9a
|
UTSW |
2 |
168,518,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6442:Atp9a
|
UTSW |
2 |
168,491,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6459:Atp9a
|
UTSW |
2 |
168,509,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Atp9a
|
UTSW |
2 |
168,496,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7271:Atp9a
|
UTSW |
2 |
168,576,047 (GRCm39) |
|
|
|
|
R7422:Atp9a
|
UTSW |
2 |
168,490,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Atp9a
|
UTSW |
2 |
168,517,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Atp9a
|
UTSW |
2 |
168,547,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7833:Atp9a
|
UTSW |
2 |
168,516,777 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7854:Atp9a
|
UTSW |
2 |
168,490,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7963:Atp9a
|
UTSW |
2 |
168,516,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Atp9a
|
UTSW |
2 |
168,517,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8904:Atp9a
|
UTSW |
2 |
168,547,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8914:Atp9a
|
UTSW |
2 |
168,479,420 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9129:Atp9a
|
UTSW |
2 |
168,517,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Atp9a
|
UTSW |
2 |
168,575,988 (GRCm39) |
intron |
probably benign |
|
|
R9171:Atp9a
|
UTSW |
2 |
168,485,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9189:Atp9a
|
UTSW |
2 |
168,518,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9299:Atp9a
|
UTSW |
2 |
168,554,666 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9303:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9305:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2016-08-02 |
Incidental Mutation