Incidental Mutation 'R7490:Atp9a'
| ID |
580658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
045564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 168517272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 354
(F354I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029060
AA Change: F296I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: F296I
| 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 benign
Transcript: ENSMUST00000109175
AA Change: F280I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: F280I
| 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 benign
Transcript: ENSMUST00000109176
AA Change: F354I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: F354I
| 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 benign
Transcript: ENSMUST00000109177
AA Change: F278I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: F278I
| 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 benign
Transcript: ENSMUST00000178504
AA Change: F296I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: F296I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,202,389 (GRCm39) |
D132G |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,168,437 (GRCm39) |
E1424G |
possibly damaging |
Het |
| Adamts4 |
C |
T |
1: 171,084,169 (GRCm39) |
Q549* |
probably null |
Het |
| Adcy4 |
A |
G |
14: 56,007,890 (GRCm39) |
I893T |
possibly damaging |
Het |
| Ago1 |
A |
T |
4: 126,333,298 (GRCm39) |
*858R |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,752,538 (GRCm39) |
I393L |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,687,459 (GRCm39) |
T987A |
probably benign |
Het |
| Ap2a1 |
G |
T |
7: 44,552,213 (GRCm39) |
N790K |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,989,349 (GRCm39) |
|
probably null |
Het |
| Arel1 |
G |
T |
12: 84,988,685 (GRCm39) |
F21L |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,686,895 (GRCm39) |
D743G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,359,818 (GRCm39) |
H259R |
unknown |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TGGTT |
TGGTTCTGTGGTCACGGGTT |
3: 95,795,498 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTG |
GTCACTGGTTCTGTGTTCACTGGTTCTGTG |
3: 95,795,478 (GRCm39) |
|
probably benign |
Het |
| Bckdk |
T |
A |
7: 127,504,145 (GRCm39) |
S15T |
unknown |
Het |
| C4b |
G |
T |
17: 34,950,054 (GRCm39) |
Y1405* |
probably null |
Het |
| Camk4 |
G |
A |
18: 33,072,598 (GRCm39) |
|
probably null |
Het |
| Car11 |
T |
A |
7: 45,349,742 (GRCm39) |
W16R |
probably benign |
Het |
| Ccdc80 |
A |
C |
16: 44,916,763 (GRCm39) |
E506D |
probably damaging |
Het |
| Chmp6 |
C |
T |
11: 119,806,269 (GRCm39) |
Q32* |
probably null |
Het |
| Colq |
G |
A |
14: 31,267,043 (GRCm39) |
P166S |
possibly damaging |
Het |
| Ctxn3 |
T |
C |
18: 57,610,357 (GRCm39) |
M58T |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,516 (GRCm39) |
I93L |
unknown |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,380 (GRCm39) |
Y227C |
probably damaging |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,954,204 (GRCm39) |
G792D |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,584,993 (GRCm39) |
|
probably null |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Fbxl13 |
T |
A |
5: 21,728,058 (GRCm39) |
R550* |
probably null |
Het |
| Gm4302 |
A |
T |
10: 100,177,445 (GRCm39) |
Q243L |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,169,275 (GRCm39) |
Y214F |
probably benign |
Het |
| Gtf3c1 |
C |
T |
7: 125,246,663 (GRCm39) |
D1549N |
probably damaging |
Het |
| Gtf3c5 |
A |
T |
2: 28,461,153 (GRCm39) |
D320E |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,126 (GRCm39) |
V1122D |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,600,987 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,264,985 (GRCm39) |
Q1077L |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,707,373 (GRCm39) |
M296L |
possibly damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,492 (GRCm39) |
D318G |
probably null |
Het |
| L3mbtl3 |
C |
T |
10: 26,215,129 (GRCm39) |
V194I |
unknown |
Het |
| Malt1 |
C |
A |
18: 65,581,282 (GRCm39) |
Q237K |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,311,187 (GRCm39) |
A221V |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,524 (GRCm39) |
I361M |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,308,682 (GRCm39) |
R493C |
probably damaging |
Het |
| Oga |
G |
A |
19: 45,755,886 (GRCm39) |
R586* |
probably null |
Het |
| Or10g9b |
T |
A |
9: 39,917,720 (GRCm39) |
H175L |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,739 (GRCm39) |
I256T |
probably damaging |
Het |
| Or4c107 |
A |
C |
2: 88,789,392 (GRCm39) |
Y194S |
probably benign |
Het |
| Or51g2 |
G |
A |
7: 102,623,017 (GRCm39) |
P61S |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,307 (GRCm39) |
V276E |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,727,229 (GRCm39) |
Y120* |
probably null |
Het |
| Orai3 |
C |
T |
7: 127,372,799 (GRCm39) |
A100V |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,241,066 (GRCm38) |
M328L |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,144,309 (GRCm39) |
V186A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,866,265 (GRCm39) |
D980V |
|
Het |
| Ppp1r16b |
T |
C |
2: 158,603,388 (GRCm39) |
Y438H |
probably damaging |
Het |
| Ppp4c |
A |
T |
7: 126,386,504 (GRCm39) |
H164Q |
probably damaging |
Het |
| Prl8a2 |
C |
A |
13: 27,536,753 (GRCm39) |
T125K |
possibly damaging |
Het |
| Rasa2 |
T |
C |
9: 96,448,175 (GRCm39) |
N494S |
possibly damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,150 (GRCm39) |
D147G |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,576,559 (GRCm39) |
D272G |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,077,818 (GRCm39) |
D184V |
probably benign |
Het |
| Simc1 |
T |
G |
13: 54,672,162 (GRCm39) |
L170R |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,797,995 (GRCm39) |
E1463G |
possibly damaging |
Het |
| Stk31 |
T |
A |
6: 49,416,166 (GRCm39) |
|
probably null |
Het |
| Tas1r3 |
A |
G |
4: 155,946,480 (GRCm39) |
I375T |
probably damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,401,494 (GRCm39) |
D405G |
probably damaging |
Het |
| Tcerg1l |
G |
A |
7: 137,861,557 (GRCm39) |
P391S |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,695,083 (GRCm39) |
S125G |
probably benign |
Het |
| Trim16 |
C |
A |
11: 62,724,949 (GRCm39) |
H246N |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,837,392 (GRCm39) |
N896I |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,451,286 (GRCm39) |
N395S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,203,589 (GRCm39) |
I1014V |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,214 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Washc5 |
T |
A |
15: 59,209,053 (GRCm39) |
N1057I |
probably benign |
Het |
| Xpo4 |
GGTATTAGCGGAGT |
GGT |
14: 57,840,078 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,331,756 (GRCm39) |
S536T |
unknown |
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 |
|
|
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 |
|
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'- CATGACTGGTCCTTGGACAG -3'
(R):5'- CGTGAGCTCTGTACCTGAGTTC -3'
Sequencing Primer
(F):5'- ACGCTCAGCATGCTGAC -3'
(R):5'- TGAGTTCTATCCCAGCCCCAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation