Incidental Mutation 'R4446:Atp9a'
| ID |
329882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
041707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4446 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 168523917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 242
(A242T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029060
AA Change: A260T
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: A260T
| 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: A244T
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: A244T
| 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 |
possibly damaging
Transcript: ENSMUST00000109176
AA Change: A318T
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: A318T
| 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: A242T
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: A242T
| 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 |
possibly damaging
Transcript: ENSMUST00000178504
AA Change: A260T
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: A260T
| 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 |
0.7624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
91% (43/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,731 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,625,567 (GRCm39) |
R144H |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,182 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
A |
12: 3,551,774 (GRCm39) |
V1172E |
possibly damaging |
Het |
| C2cd3 |
C |
T |
7: 100,023,684 (GRCm39) |
T90I |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,570,692 (GRCm39) |
S295P |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,955,645 (GRCm39) |
E1025G |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Dgkb |
G |
T |
12: 38,234,952 (GRCm39) |
G439V |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,865,523 (GRCm39) |
V20A |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,072,500 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,182,854 (GRCm39) |
N2035S |
probably damaging |
Het |
| Fzd1 |
A |
G |
5: 4,805,777 (GRCm39) |
Y602H |
probably damaging |
Het |
| Gm38706 |
C |
A |
6: 130,460,273 (GRCm39) |
|
noncoding transcript |
Het |
| Hmmr |
T |
C |
11: 40,606,148 (GRCm39) |
Q274R |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Klf5 |
C |
T |
14: 99,539,666 (GRCm39) |
R360C |
probably damaging |
Het |
| Lrat |
A |
G |
3: 82,804,293 (GRCm39) |
M228T |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,149 (GRCm39) |
K565N |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,294 (GRCm39) |
I144L |
probably benign |
Het |
| Or1ad6 |
C |
T |
11: 50,860,690 (GRCm39) |
P282S |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,588 (GRCm39) |
D274G |
probably benign |
Het |
| Pcdha6 |
A |
G |
18: 37,100,813 (GRCm39) |
D2G |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,938 (GRCm39) |
R464G |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel42 |
T |
A |
5: 94,685,702 (GRCm39) |
I454K |
probably damaging |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,505,979 (GRCm39) |
M596V |
probably damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,320,621 (GRCm39) |
K47E |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,089,114 (GRCm39) |
R716H |
possibly damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,132,186 (GRCm39) |
V216I |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,679,501 (GRCm39) |
|
probably null |
Het |
| Tmprss6 |
A |
G |
15: 78,337,039 (GRCm39) |
Y356H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Umod |
A |
G |
7: 119,065,279 (GRCm39) |
|
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,312 (GRCm39) |
I102K |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
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 |
|
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'- ATCAGATGTCACTTTAGGGCCC -3'
(R):5'- AAGCCTCTGTCACTCCTGAC -3'
Sequencing Primer
(F):5'- ACTTTAGGGCCCTGGAAATGC -3'
(R):5'- CCAAATCTGTCATTTAGTAGGAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation