Incidental Mutation 'IGL02639:Atp9a'
| ID |
301648 |
| 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 # |
IGL02639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168491540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 675
(M675T)
|
| 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: M675T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: M675T
| 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: M659T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: M659T
| 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: M733T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: M733T
| 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: M657T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: M657T
| 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: M675T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: M675T
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
T |
15: 37,430,048 (GRCm39) |
R71* |
probably null |
Het |
| Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,733 (GRCm39) |
D241G |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,584 (GRCm39) |
N566D |
probably benign |
Het |
| Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,581,544 (GRCm39) |
D394G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
| Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
| Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,187,453 (GRCm39) |
Y304N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
| Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
| Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
| Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
| Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably 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 |
|
IGL03011:Atp9a
|
APN |
2 |
168,494,552 (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 |
2015-04-16 |
Incidental Mutation