Incidental Mutation 'R1611:Atp9a'
| ID |
176775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
039648-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1611 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 168515489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 401
(M401V)
|
| 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: M401V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: M401V
| 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: M385V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: M385V
| 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: M459V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: M459V
| 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 |
possibly damaging
Transcript: ENSMUST00000109177
AA Change: M383V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: M383V
| 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 |
noncoding transcript
Transcript: ENSMUST00000140188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147757
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178504
AA Change: M401V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: M401V
| 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 |
|
| Meta Mutation Damage Score |
0.8924 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,216,390 (GRCm39) |
I186F |
possibly damaging |
Het |
| Actr6 |
T |
A |
10: 89,568,064 (GRCm39) |
K14* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,707,236 (GRCm39) |
V1390E |
probably damaging |
Het |
| Akap1 |
C |
T |
11: 88,736,104 (GRCm39) |
R186K |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,109,984 (GRCm39) |
V99D |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,051 (GRCm39) |
G407S |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,198,998 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
A |
10: 74,961,034 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
C |
1: 44,165,907 (GRCm39) |
I119T |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,600,445 (GRCm39) |
I1632T |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,338,251 (GRCm39) |
V537M |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,726,032 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
A |
1: 132,050,113 (GRCm39) |
I21F |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,224,777 (GRCm39) |
T271A |
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,309,532 (GRCm39) |
N528S |
possibly damaging |
Het |
| Cpsf6 |
T |
A |
10: 117,197,733 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
T |
C |
7: 44,609,536 (GRCm39) |
T689A |
probably benign |
Het |
| D030068K23Rik |
T |
C |
8: 109,975,935 (GRCm39) |
Y64C |
unknown |
Het |
| Ddb1 |
T |
A |
19: 10,604,128 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
A |
19: 10,590,252 (GRCm39) |
C260S |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,148,297 (GRCm39) |
Q1478K |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,033,755 (GRCm39) |
M247R |
unknown |
Het |
| Dnai3 |
T |
C |
3: 145,801,113 (GRCm39) |
Y115C |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,694 (GRCm39) |
S299G |
probably benign |
Het |
| Erbb4 |
C |
A |
1: 68,079,547 (GRCm39) |
G1178C |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,186,091 (GRCm39) |
I370N |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gm12353 |
T |
A |
4: 19,631,843 (GRCm39) |
Y27* |
probably null |
Het |
| Gnl1 |
C |
T |
17: 36,298,441 (GRCm39) |
T395I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,504 (GRCm39) |
T554I |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,157,765 (GRCm39) |
I116V |
probably benign |
Het |
| Inava |
G |
A |
1: 136,143,855 (GRCm39) |
P527L |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,423,552 (GRCm39) |
V233E |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,321,992 (GRCm39) |
T673A |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,564,309 (GRCm39) |
|
probably null |
Het |
| Lipg |
T |
C |
18: 75,081,130 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,627,219 (GRCm39) |
L109Q |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,671 (GRCm39) |
I105N |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Naa35 |
G |
T |
13: 59,776,747 (GRCm39) |
R574L |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,084 (GRCm39) |
|
probably benign |
Het |
| Nedd9 |
T |
A |
13: 41,470,406 (GRCm39) |
D249V |
probably benign |
Het |
| Nsg1 |
T |
A |
5: 38,296,060 (GRCm39) |
K38* |
probably null |
Het |
| Nup155 |
T |
A |
15: 8,159,644 (GRCm39) |
D518E |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,968 (GRCm39) |
I28N |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,601,098 (GRCm39) |
H231L |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,960,527 (GRCm39) |
I586V |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,310,236 (GRCm39) |
N242S |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,607,013 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
A |
T |
4: 144,119,382 (GRCm39) |
V395E |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,430 (GRCm39) |
V404A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,223,862 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,442,625 (GRCm39) |
L259P |
probably damaging |
Het |
| Rps6ka5 |
C |
G |
12: 100,537,111 (GRCm39) |
V540L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,850 (GRCm39) |
D3966N |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,771 (GRCm39) |
S1163R |
probably benign |
Het |
| Serpinb9g |
T |
C |
13: 33,676,857 (GRCm39) |
I213T |
possibly damaging |
Het |
| Sil1 |
A |
T |
18: 35,402,141 (GRCm39) |
V331E |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,244,395 (GRCm39) |
F410S |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Slfnl1 |
A |
G |
4: 120,390,574 (GRCm39) |
E75G |
probably benign |
Het |
| Sp1 |
T |
A |
15: 102,339,370 (GRCm39) |
I436N |
probably damaging |
Het |
| Taf4b |
A |
T |
18: 14,977,526 (GRCm39) |
E766V |
probably null |
Het |
| Tgfbr1 |
A |
G |
4: 47,396,526 (GRCm39) |
Y180C |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,868,035 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,011,958 (GRCm39) |
C606* |
probably null |
Het |
| Zfp341 |
C |
A |
2: 154,487,623 (GRCm39) |
H702Q |
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 |
|
IGL02639:Atp9a
|
APN |
2 |
168,491,540 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATTTCTGGTGACTCACAAGC -3'
(R):5'- TCAGGGAATCGGTACAGTCCTGTC -3'
Sequencing Primer
(F):5'- tcagcagaggcaggcag -3'
(R):5'- GTCCCCATGACTGTAGGATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation