Incidental Mutation 'IGL01122:Atp13a1'
ID |
51796 |
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 # |
IGL01122
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70243813-70260399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70251555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 540
(L540Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
|
AlphaFold |
Q9EPE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034326
AA Change: L540Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034326 Gene: ENSMUSG00000031862 AA Change: L540Q
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably 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 |
|
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 |
2013-06-21 |