Incidental Mutation 'IGL00476:Atp13a1'
| ID |
5030 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp13a1
|
| Ensembl Gene |
ENSMUSG00000031862 |
| Gene Name |
ATPase type 13A1 |
| Synonyms |
Cgi152, catp, Atp13a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70243813-70260399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70249547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 270
(L270P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
|
| AlphaFold |
Q9EPE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034326
AA Change: L270P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: L270P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
264 |
515 |
3.2e-24 |
PFAM |
|
Pfam:Hydrolase
|
524 |
781 |
2.2e-11 |
PFAM |
|
Pfam:HAD
|
527 |
870 |
2.7e-27 |
PFAM |
|
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1045 |
1067 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1093 |
1115 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Atp13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Atp13a1
|
APN |
8 |
70,252,653 (GRCm39) |
splice site |
probably benign |
|
|
IGL01122:Atp13a1
|
APN |
8 |
70,251,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Atp13a1
|
APN |
8 |
70,259,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Atp13a1
|
APN |
8 |
70,257,963 (GRCm39) |
missense |
probably benign |
|
|
IGL03073:Atp13a1
|
APN |
8 |
70,251,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
yun_nan
|
UTSW |
8 |
70,251,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Atp13a1
|
UTSW |
8 |
70,256,397 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0086:Atp13a1
|
UTSW |
8 |
70,250,424 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0384:Atp13a1
|
UTSW |
8 |
70,249,974 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0973:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0973:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0974:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2010:Atp13a1
|
UTSW |
8 |
70,244,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2040:Atp13a1
|
UTSW |
8 |
70,259,702 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2069:Atp13a1
|
UTSW |
8 |
70,252,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4274:Atp13a1
|
UTSW |
8 |
70,257,942 (GRCm39) |
missense |
probably benign |
|
|
R4288:Atp13a1
|
UTSW |
8 |
70,246,728 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4470:Atp13a1
|
UTSW |
8 |
70,251,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Atp13a1
|
UTSW |
8 |
70,249,490 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5916:Atp13a1
|
UTSW |
8 |
70,259,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Atp13a1
|
UTSW |
8 |
70,252,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5951:Atp13a1
|
UTSW |
8 |
70,249,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Atp13a1
|
UTSW |
8 |
70,258,010 (GRCm39) |
missense |
probably benign |
|
|
R6467:Atp13a1
|
UTSW |
8 |
70,259,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Atp13a1
|
UTSW |
8 |
70,252,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7166:Atp13a1
|
UTSW |
8 |
70,251,966 (GRCm39) |
splice site |
probably null |
|
|
R7652:Atp13a1
|
UTSW |
8 |
70,258,209 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7942:Atp13a1
|
UTSW |
8 |
70,259,870 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8014:Atp13a1
|
UTSW |
8 |
70,252,429 (GRCm39) |
nonsense |
probably null |
|
|
R8228:Atp13a1
|
UTSW |
8 |
70,251,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Atp13a1
|
UTSW |
8 |
70,250,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8951:Atp13a1
|
UTSW |
8 |
70,246,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9000:Atp13a1
|
UTSW |
8 |
70,254,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Atp13a1
|
UTSW |
8 |
70,256,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Atp13a1
|
UTSW |
8 |
70,252,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF001:Atp13a1
|
UTSW |
8 |
70,252,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-04-20 |
Incidental Mutation