Incidental Mutation 'R2881:Atp9a'
ID |
260307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp9a
|
Ensembl Gene |
ENSMUSG00000027546 |
Gene Name |
ATPase, class II, type 9A |
Synonyms |
IIa, Class II |
MMRRC Submission |
040469-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2881 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 168548134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 7
(Y7C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000123156]
[ENSMUST00000151610]
[ENSMUST00000156555]
[ENSMUST00000156397]
[ENSMUST00000178504]
|
AlphaFold |
O70228 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029060
AA Change: Y103C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029060 Gene: ENSMUSG00000027546 AA Change: Y103C
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: Y87C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104804 Gene: ENSMUSG00000027546 AA Change: Y87C
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: Y161C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104805 Gene: ENSMUSG00000027546 AA Change: Y161C
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: Y85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104806 Gene: ENSMUSG00000027546 AA Change: Y85C
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: ENSMUST00000123156
AA Change: Y82C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114868 Gene: ENSMUSG00000027546 AA Change: Y82C
Domain | Start | End | E-Value | Type |
SCOP:d1eula_
|
29 |
112 |
8e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140188
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151610
AA Change: Y7C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121364 Gene: ENSMUSG00000027546 AA Change: Y7C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156555
AA Change: Y81C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119315 Gene: ENSMUSG00000027546 AA Change: Y81C
Domain | Start | End | E-Value | Type |
SCOP:d1eula_
|
28 |
87 |
4e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156397
AA Change: Y136C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119732 Gene: ENSMUSG00000027546 AA Change: Y136C
Domain | Start | End | E-Value | Type |
SCOP:d1eula_
|
83 |
189 |
6e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178504
AA Change: Y103C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546 AA Change: Y103C
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Camta2 |
A |
T |
11: 70,570,490 (GRCm39) |
|
probably null |
Het |
Ces1d |
C |
A |
8: 93,921,659 (GRCm39) |
G35W |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
Coasy |
G |
A |
11: 100,976,675 (GRCm39) |
V482I |
possibly damaging |
Het |
Cyp2j9 |
A |
T |
4: 96,462,249 (GRCm39) |
V344E |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,927,913 (GRCm39) |
Y73* |
probably null |
Het |
Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,185 (GRCm39) |
T564A |
probably damaging |
Het |
Galc |
A |
G |
12: 98,179,355 (GRCm39) |
M518T |
probably benign |
Het |
Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
Hace1 |
T |
A |
10: 45,547,230 (GRCm39) |
M471K |
probably benign |
Het |
Irf2bpl |
T |
A |
12: 86,929,551 (GRCm39) |
D374V |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,571,488 (GRCm39) |
E227G |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,675,328 (GRCm39) |
|
probably null |
Het |
Or5ac24 |
A |
T |
16: 59,165,215 (GRCm39) |
L283Q |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
Pira13 |
T |
A |
7: 3,828,640 (GRCm39) |
M1L |
probably null |
Het |
Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,380,570 (GRCm39) |
Y754C |
probably damaging |
Het |
She |
T |
A |
3: 89,739,231 (GRCm39) |
C141S |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
Vmn2r88 |
G |
T |
14: 51,656,146 (GRCm39) |
C794F |
probably damaging |
Het |
Zfp871 |
T |
C |
17: 32,994,407 (GRCm39) |
K256R |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,579,329 (GRCm39) |
C385S |
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 |
|
R2404:Atp9a
|
UTSW |
2 |
168,517,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
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'- TGATACCTGAACTGCAGCC -3'
(R):5'- AACTGTTTAGAGTCTGCGAGGAG -3'
Sequencing Primer
(F):5'- TGATACCTGAACTGCAGCCTGAAG -3'
(R):5'- GCACTCTCTGCTGGAGTG -3'
|
Posted On |
2015-01-23 |