Incidental Mutation 'IGL02057:Atp13a3'
| ID |
185269 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30151182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1043
(A1043T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061350
AA Change: A1043T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: A1043T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
139 |
4.9e-30 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
5.1e-36 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
7.5e-28 |
PFAM |
|
Pfam:Hydrolase_like2
|
607 |
661 |
6.8e-8 |
PFAM |
|
Pfam:Hydrolase
|
612 |
790 |
6.5e-11 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100013
AA Change: A1043T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: A1043T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
146 |
2.9e-38 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
7.3e-41 |
PFAM |
|
Pfam:Hydrolase
|
488 |
784 |
1.3e-12 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
1.3e-31 |
PFAM |
|
Pfam:Cation_ATPase
|
612 |
660 |
4.5e-7 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229503
AA Change: A52T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229750
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
| Other mutations in Atp13a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Atp13a3
|
APN |
16 |
30,170,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00490:Atp13a3
|
APN |
16 |
30,171,172 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01844:Atp13a3
|
APN |
16 |
30,180,781 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01994:Atp13a3
|
APN |
16 |
30,156,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02083:Atp13a3
|
APN |
16 |
30,166,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02348:Atp13a3
|
APN |
16 |
30,170,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02352:Atp13a3
|
APN |
16 |
30,169,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Atp13a3
|
APN |
16 |
30,169,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Atp13a3
|
APN |
16 |
30,152,614 (GRCm39) |
missense |
probably null |
|
|
IGL02687:Atp13a3
|
APN |
16 |
30,156,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Atp13a3
|
APN |
16 |
30,157,439 (GRCm39) |
splice site |
probably null |
|
|
IGL03190:Atp13a3
|
APN |
16 |
30,141,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8562:Atp13a3
|
UTSW |
16 |
30,178,543 (GRCm39) |
nonsense |
probably null |
|
|
H8786:Atp13a3
|
UTSW |
16 |
30,178,543 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Atp13a3
|
UTSW |
16 |
30,181,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0725:Atp13a3
|
UTSW |
16 |
30,170,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Atp13a3
|
UTSW |
16 |
30,173,065 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1208:Atp13a3
|
UTSW |
16 |
30,173,065 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1244:Atp13a3
|
UTSW |
16 |
30,180,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1326:Atp13a3
|
UTSW |
16 |
30,171,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Atp13a3
|
UTSW |
16 |
30,151,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Atp13a3
|
UTSW |
16 |
30,151,092 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1709:Atp13a3
|
UTSW |
16 |
30,134,659 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1733:Atp13a3
|
UTSW |
16 |
30,176,084 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2086:Atp13a3
|
UTSW |
16 |
30,171,116 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2128:Atp13a3
|
UTSW |
16 |
30,173,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2421:Atp13a3
|
UTSW |
16 |
30,168,643 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3427:Atp13a3
|
UTSW |
16 |
30,163,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3783:Atp13a3
|
UTSW |
16 |
30,173,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Atp13a3
|
UTSW |
16 |
30,173,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4059:Atp13a3
|
UTSW |
16 |
30,173,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4798:Atp13a3
|
UTSW |
16 |
30,160,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Atp13a3
|
UTSW |
16 |
30,158,694 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5216:Atp13a3
|
UTSW |
16 |
30,159,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Atp13a3
|
UTSW |
16 |
30,140,697 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5876:Atp13a3
|
UTSW |
16 |
30,181,552 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5947:Atp13a3
|
UTSW |
16 |
30,181,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6291:Atp13a3
|
UTSW |
16 |
30,155,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6324:Atp13a3
|
UTSW |
16 |
30,151,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6328:Atp13a3
|
UTSW |
16 |
30,155,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6372:Atp13a3
|
UTSW |
16 |
30,162,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6446:Atp13a3
|
UTSW |
16 |
30,180,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7016:Atp13a3
|
UTSW |
16 |
30,157,308 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7086:Atp13a3
|
UTSW |
16 |
30,169,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7241:Atp13a3
|
UTSW |
16 |
30,171,095 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7589:Atp13a3
|
UTSW |
16 |
30,163,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8098:Atp13a3
|
UTSW |
16 |
30,173,115 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8191:Atp13a3
|
UTSW |
16 |
30,168,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Atp13a3
|
UTSW |
16 |
30,152,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Atp13a3
|
UTSW |
16 |
30,169,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9109:Atp13a3
|
UTSW |
16 |
30,134,716 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9604:Atp13a3
|
UTSW |
16 |
30,168,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9800:Atp13a3
|
UTSW |
16 |
30,159,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation