Incidental Mutation 'IGL02606:Atp9a'
ID |
300269 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp9a
|
Ensembl Gene |
ENSMUSG00000027546 |
Gene Name |
ATPase, class II, type 9A |
Synonyms |
IIa, Class II |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02606
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 168494588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 639
(L639Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
AlphaFold |
O70228 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029060
AA Change: L639Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029060 Gene: ENSMUSG00000027546 AA Change: L639Q
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: L623Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104804 Gene: ENSMUSG00000027546 AA Change: L623Q
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: L697Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104805 Gene: ENSMUSG00000027546 AA Change: L697Q
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: L621Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104806 Gene: ENSMUSG00000027546 AA Change: L621Q
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: ENSMUST00000178504
AA Change: L639Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136793 Gene: ENSMUSG00000027546 AA Change: L639Q
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
A |
4: 103,099,978 (GRCm39) |
N74I |
probably benign |
Het |
Abr |
T |
C |
11: 76,369,990 (GRCm39) |
K75R |
probably damaging |
Het |
Adcy10 |
A |
C |
1: 165,347,087 (GRCm39) |
D368A |
possibly damaging |
Het |
Alas1 |
A |
G |
9: 106,118,309 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,576,949 (GRCm39) |
D168E |
probably benign |
Het |
Ankar |
C |
T |
1: 72,729,444 (GRCm39) |
A82T |
possibly damaging |
Het |
Atp2c2 |
C |
T |
8: 120,457,013 (GRCm39) |
T205I |
probably benign |
Het |
Btf3l4 |
T |
C |
4: 108,675,411 (GRCm39) |
D134G |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,007,257 (GRCm39) |
C425R |
probably damaging |
Het |
Cct6b |
G |
T |
11: 82,627,271 (GRCm39) |
T322N |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,573,197 (GRCm39) |
R192* |
probably null |
Het |
Cyp8b1 |
A |
T |
9: 121,744,801 (GRCm39) |
F177Y |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,063,941 (GRCm39) |
N474K |
probably benign |
Het |
Dusp16 |
T |
C |
6: 134,737,999 (GRCm39) |
E13G |
probably damaging |
Het |
Ephx2 |
T |
C |
14: 66,323,741 (GRCm39) |
N397S |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,122,913 (GRCm39) |
V145A |
possibly damaging |
Het |
Fiz1 |
A |
G |
7: 5,012,158 (GRCm39) |
L120P |
possibly damaging |
Het |
Galnt6 |
C |
T |
15: 100,612,100 (GRCm39) |
V181M |
probably damaging |
Het |
Ginm1 |
A |
G |
10: 7,646,163 (GRCm39) |
V279A |
probably damaging |
Het |
Gja10 |
T |
G |
4: 32,601,509 (GRCm39) |
I292L |
probably benign |
Het |
Gnb3 |
T |
C |
6: 124,814,378 (GRCm39) |
S136G |
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,940 (GRCm39) |
V495E |
probably damaging |
Het |
Il1rn |
G |
T |
2: 24,235,462 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,486 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,937 (GRCm39) |
S229P |
possibly damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,486 (GRCm39) |
T527A |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,424,331 (GRCm39) |
A982V |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,916,734 (GRCm39) |
K293R |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,972 (GRCm39) |
D92G |
probably damaging |
Het |
Lmod1 |
G |
A |
1: 135,292,218 (GRCm39) |
V358M |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,199,011 (GRCm39) |
D295E |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,685,916 (GRCm39) |
N283S |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,387,385 (GRCm39) |
T220A |
probably damaging |
Het |
Nucks1 |
T |
A |
1: 131,852,363 (GRCm39) |
D71E |
probably damaging |
Het |
Or4n4 |
T |
C |
14: 50,519,530 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8g18 |
C |
A |
9: 39,149,490 (GRCm39) |
V77F |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,452,852 (GRCm39) |
T3926A |
probably benign |
Het |
Pptc7 |
T |
A |
5: 122,451,651 (GRCm39) |
|
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,805,948 (GRCm39) |
V334A |
probably benign |
Het |
Ptdss2 |
C |
A |
7: 140,732,911 (GRCm39) |
C231* |
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,118,456 (GRCm39) |
P570S |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,027,037 (GRCm39) |
T208A |
possibly damaging |
Het |
Rnaseh2a |
T |
G |
8: 85,686,723 (GRCm39) |
D142A |
probably damaging |
Het |
Rufy4 |
C |
T |
1: 74,172,509 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
A |
G |
10: 78,584,300 (GRCm39) |
Y372H |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,022,013 (GRCm39) |
D128E |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,646,565 (GRCm39) |
I11081T |
possibly damaging |
Het |
Ubap2l |
A |
T |
3: 89,945,735 (GRCm39) |
S173R |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,926,959 (GRCm39) |
N23S |
probably damaging |
Het |
Vwce |
C |
A |
19: 10,632,712 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-04-16 |