Incidental Mutation 'IGL03294:Atp9a'
| ID |
416009 |
| 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 # |
IGL03294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 168531225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 163
(K163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000151610]
[ENSMUST00000156397]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029060
AA Change: K181E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: K181E
| 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: K165E
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: K165E
| 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 benign
Transcript: ENSMUST00000109176
AA Change: K239E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: K239E
| 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 benign
Transcript: ENSMUST00000109177
AA Change: K163E
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: K163E
| 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 benign
Transcript: ENSMUST00000151610
|
| SMART Domains |
Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156397
|
| SMART Domains |
Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
83 |
189 |
6e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178504
AA Change: K181E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: K181E
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030498E09Rik |
A |
T |
X: 38,047,315 (GRCm39) |
M119L |
probably benign |
Het |
| Akap10 |
A |
T |
11: 61,768,179 (GRCm39) |
V646D |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,105,548 (GRCm39) |
Y218C |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,540,660 (GRCm39) |
L174F |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,382,338 (GRCm39) |
K99E |
possibly damaging |
Het |
| Birc6 |
C |
T |
17: 74,956,881 (GRCm39) |
A3605V |
probably benign |
Het |
| C8b |
G |
A |
4: 104,637,888 (GRCm39) |
R120Q |
probably benign |
Het |
| Ccr1l1 |
A |
C |
9: 123,778,444 (GRCm39) |
M1R |
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,803,530 (GRCm39) |
S105P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,508 (GRCm39) |
T502A |
possibly damaging |
Het |
| Ddx10 |
C |
T |
9: 53,028,452 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,233,441 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,879,035 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,765,166 (GRCm39) |
V995A |
probably benign |
Het |
| Gpr34 |
T |
C |
X: 13,505,788 (GRCm39) |
Y106H |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,731,862 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,138,392 (GRCm39) |
R154L |
probably damaging |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Meioc |
A |
T |
11: 102,571,495 (GRCm39) |
E943V |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,141,205 (GRCm39) |
R917* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,518 (GRCm39) |
I76T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,389,285 (GRCm39) |
N87S |
possibly damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,303,967 (GRCm39) |
I506L |
probably benign |
Het |
| Phf14 |
T |
A |
6: 11,953,366 (GRCm39) |
D368E |
probably damaging |
Het |
| Phka1 |
C |
A |
X: 101,580,819 (GRCm39) |
S964I |
probably damaging |
Het |
| Pikfyve |
G |
A |
1: 65,286,226 (GRCm39) |
R1155Q |
probably damaging |
Het |
| Plin2 |
C |
T |
4: 86,580,315 (GRCm39) |
V60M |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,934,671 (GRCm39) |
Q145R |
possibly damaging |
Het |
| Sap30 |
A |
G |
8: 57,940,335 (GRCm39) |
I89T |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,276 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
C |
5: 53,221,340 (GRCm39) |
D262A |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,705,300 (GRCm39) |
|
probably null |
Het |
| Slfn4 |
A |
T |
11: 83,077,400 (GRCm39) |
T63S |
probably benign |
Het |
| Tbx10 |
A |
T |
19: 4,048,571 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,337,420 (GRCm39) |
N501K |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,685,966 (GRCm39) |
Y134N |
probably damaging |
Het |
| Uevld |
A |
T |
7: 46,580,778 (GRCm39) |
D361E |
possibly damaging |
Het |
| Ugt1a5 |
A |
C |
1: 88,094,537 (GRCm39) |
D255A |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,201,935 (GRCm39) |
F190L |
probably benign |
Het |
| Wfs1 |
G |
A |
5: 37,132,941 (GRCm39) |
R113C |
probably damaging |
Het |
| Yipf5 |
T |
G |
18: 40,339,449 (GRCm39) |
M206L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,346,047 (GRCm39) |
D847G |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,258 (GRCm39) |
K227* |
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 |
|
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 |
2016-08-02 |
Incidental Mutation