Incidental Mutation 'R2404:Atp9a'
ID |
248849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp9a
|
Ensembl Gene |
ENSMUSG00000027546 |
Gene Name |
ATPase, class II, type 9A |
Synonyms |
IIa, Class II |
MMRRC Submission |
040370-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2404 (G1)
|
Quality Score |
115 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 168517283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000109177]
[ENSMUST00000178504]
[ENSMUST00000178504]
[ENSMUST00000178504]
[ENSMUST00000178504]
|
AlphaFold |
O70228 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029060
|
SMART Domains |
Protein: ENSMUSP00000029060 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000029060
|
SMART Domains |
Protein: ENSMUSP00000029060 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109175
|
SMART Domains |
Protein: ENSMUSP00000104804 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109175
|
SMART Domains |
Protein: ENSMUSP00000104804 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109176
|
SMART Domains |
Protein: ENSMUSP00000104805 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109176
|
SMART Domains |
Protein: ENSMUSP00000104805 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109177
|
SMART Domains |
Protein: ENSMUSP00000104806 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000109177
|
SMART Domains |
Protein: ENSMUSP00000104806 Gene: ENSMUSG00000027546
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 |
probably null
Transcript: ENSMUST00000178504
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000178504
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000178504
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546
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 null
Transcript: ENSMUST00000178504
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546
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 |
0.9498 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
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 |
|
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 |
|
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'- AGCTCACCTGATAGGAATGATG -3'
(R):5'- CGATTTGGCACACTTGTTGCG -3'
Sequencing Primer
(F):5'- CCTGATAGGAATGATGTTGGAAAAC -3'
(R):5'- ACACTTGTTGCGTTTTGAGACAC -3'
|
Posted On |
2014-11-11 |