Incidental Mutation 'IGL02348:Atp13a3'
| ID |
289397 |
| 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 non essential
(E-score: 0.497)
|
| Stock # |
IGL02348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 30170046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061350
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
| 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 null
Transcript: ENSMUST00000100013
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
| 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 |
|---|
| Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
| Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
| Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
| Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
| Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
| Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,721,354 (GRCm39) |
V433I |
probably benign |
Het |
| Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
| Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
| Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
| Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,915,758 (GRCm39) |
I312N |
probably damaging |
Het |
| Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
| Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
| Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
| Nfya |
G |
A |
17: 48,700,304 (GRCm39) |
Q122* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
| Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,610,452 (GRCm39) |
Y685C |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
| Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
| Sumf2 |
G |
T |
5: 129,888,711 (GRCm39) |
G216C |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
| Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
| Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
| Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation