Incidental Mutation 'R5807:Atp9a'
| ID |
448569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
043393-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 168495454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 660
(A660V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029060
AA Change: A602V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: A602V
| 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 |
possibly damaging
Transcript: ENSMUST00000109175
AA Change: A586V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: A586V
| 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: A660V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: A660V
| 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: A584V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: A584V
| 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 |
possibly damaging
Transcript: ENSMUST00000178504
AA Change: A602V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: A602V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,651 (GRCm39) |
L943P |
probably damaging |
Het |
| Abcg5 |
C |
A |
17: 84,979,719 (GRCm39) |
V214F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,338,886 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,523,546 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,846,696 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,866,428 (GRCm39) |
I409T |
probably damaging |
Het |
| Atp5f1b |
G |
A |
10: 127,924,431 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,376 (GRCm39) |
T223A |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,211,353 (GRCm39) |
M507T |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,243,828 (GRCm39) |
S287P |
probably damaging |
Het |
| Chrna7 |
T |
A |
7: 62,798,349 (GRCm39) |
D111V |
probably damaging |
Het |
| Clxn |
A |
T |
16: 14,734,836 (GRCm39) |
I69F |
probably benign |
Het |
| Cnr2 |
A |
G |
4: 135,644,747 (GRCm39) |
D275G |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,158,144 (GRCm39) |
M305L |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,317,906 (GRCm39) |
D206V |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,101,944 (GRCm39) |
L453S |
probably damaging |
Het |
| Ddx52 |
T |
G |
11: 83,840,508 (GRCm39) |
S284A |
probably benign |
Het |
| Eif2ak4 |
G |
T |
2: 118,219,332 (GRCm39) |
R48L |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,561,175 (GRCm39) |
E303G |
possibly damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,114,933 (GRCm39) |
E23G |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,263 (GRCm39) |
S188P |
probably damaging |
Het |
| Fer1l6 |
C |
A |
15: 58,462,399 (GRCm39) |
S818* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,687,218 (GRCm39) |
D213G |
probably damaging |
Het |
| Gcg |
A |
G |
2: 62,306,069 (GRCm39) |
I176T |
possibly damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,279 (GRCm39) |
S109T |
probably benign |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Gm5070 |
C |
A |
3: 95,317,965 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8444 |
T |
C |
15: 81,727,654 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,356,198 (GRCm39) |
T117A |
probably damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,430 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
A |
7: 55,880,667 (GRCm39) |
F4766L |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,411 (GRCm39) |
E202* |
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,339,742 (GRCm39) |
T20I |
possibly damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,391 (GRCm39) |
D161G |
probably damaging |
Het |
| Krt84 |
T |
A |
15: 101,438,647 (GRCm39) |
K280M |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,895 (GRCm39) |
C199S |
unknown |
Het |
| Mrgprb3 |
A |
G |
7: 48,293,110 (GRCm39) |
V147A |
probably benign |
Het |
| Ndufs6 |
A |
T |
13: 73,475,553 (GRCm39) |
F48L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,970,476 (GRCm39) |
S2586G |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,759 (GRCm39) |
R299G |
probably benign |
Het |
| Or13c7b |
C |
A |
4: 43,820,912 (GRCm39) |
V150L |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,414,857 (GRCm39) |
D416G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,099,766 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,913,252 (GRCm39) |
D401E |
probably benign |
Het |
| Pla2r1 |
C |
T |
2: 60,259,065 (GRCm39) |
V1108M |
possibly damaging |
Het |
| Prim2 |
A |
G |
1: 33,519,487 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,701,947 (GRCm39) |
H406R |
probably benign |
Het |
| Qpctl |
G |
T |
7: 18,877,132 (GRCm39) |
H329N |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,022,755 (GRCm39) |
N390Y |
probably damaging |
Het |
| Rnase1 |
A |
G |
14: 51,382,907 (GRCm39) |
V149A |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,434,192 (GRCm39) |
D581V |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,602,630 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,350,973 (GRCm39) |
M12T |
probably benign |
Het |
| Tmem38a |
A |
G |
8: 73,333,944 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,714,500 (GRCm39) |
T793I |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,443,211 (GRCm39) |
D384G |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,606,281 (GRCm39) |
Y398N |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGCTAACAGGGAAGCTGGTG -3'
(R):5'- CATTGGAACATGCTGTGCTGG -3'
Sequencing Primer
(F):5'- GCTGGTGCGCTCAAAAAGACC -3'
(R):5'- TGGCCACAGAAACCCATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation