Incidental Mutation 'IGL03073:Atp13a1'
| ID |
417584 |
| 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 # |
IGL03073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70243813-70260399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70251152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 459
(V459A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
|
| AlphaFold |
Q9EPE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034326
AA Change: V459A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: V459A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,735 (GRCm39) |
|
noncoding transcript |
Het |
| Actr6 |
A |
G |
10: 89,562,556 (GRCm39) |
S108P |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,103,940 (GRCm39) |
N568K |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,703 (GRCm39) |
L408P |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,835,713 (GRCm39) |
T486M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,921,941 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,278 (GRCm39) |
I502T |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,293,470 (GRCm39) |
N137K |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,864,791 (GRCm39) |
D1196E |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,717,245 (GRCm39) |
|
probably benign |
Het |
| Lypd9 |
A |
T |
11: 58,338,277 (GRCm39) |
D38E |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,050,004 (GRCm39) |
H313N |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,760,646 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,310,153 (GRCm39) |
V805I |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,418,235 (GRCm39) |
D763E |
possibly damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,415,894 (GRCm39) |
H1091Q |
probably benign |
Het |
| Or5b112 |
T |
G |
19: 13,319,386 (GRCm39) |
I88R |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,697 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,707,816 (GRCm39) |
D886V |
possibly damaging |
Het |
| Pdlim4 |
A |
G |
11: 53,954,467 (GRCm39) |
V21A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,195 (GRCm39) |
M940T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,304,949 (GRCm39) |
|
probably null |
Het |
| Sox1 |
T |
C |
8: 12,446,625 (GRCm39) |
W89R |
probably damaging |
Het |
| Stx12 |
T |
C |
4: 132,585,760 (GRCm39) |
M207V |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,426,435 (GRCm39) |
T1154A |
probably damaging |
Het |
| Tmcc3 |
T |
G |
10: 94,414,813 (GRCm39) |
S172A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,889,461 (GRCm39) |
I1773F |
possibly damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,170 (GRCm39) |
N720Y |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,373,002 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
A |
C |
7: 23,306,273 (GRCm39) |
Q225P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,528 (GRCm39) |
I293V |
possibly damaging |
Het |
|
| Other mutations in Atp13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Atp13a1
|
APN |
8 |
70,249,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation