Incidental Mutation 'IGL02359:Atp13a3'
| ID |
290431 |
| 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 # |
IGL02359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30169902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 392
(I392T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061350
AA Change: I392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: I392T
| 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 damaging
Transcript: ENSMUST00000100013
AA Change: I392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: I392T
| 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 |
noncoding transcript
Transcript: ENSMUST00000149882
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,058,316 (GRCm39) |
I303N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
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 |
|
IGL02057:Atp13a3
|
APN |
16 |
30,151,182 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation