Incidental Mutation 'R5045:Atp13a3'
| ID |
394351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| MMRRC Submission |
042635-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.497)
|
| Stock # |
R5045 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30158694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 811
(H811R)
|
| 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: H811R
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: H811R
| 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: H811R
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: H811R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
| 2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
| 4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
| 4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
| Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
| Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
| Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
| Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
| Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
| Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
| Dclk3 |
A |
T |
9: 111,296,856 (GRCm39) |
E133D |
probably damaging |
Het |
| Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,622,543 (GRCm39) |
E1092K |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
| Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
| Fam20a |
T |
C |
11: 109,568,711 (GRCm39) |
I272V |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
| Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
| Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
| Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
| Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
| Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
| Potefam1 |
T |
A |
2: 111,023,804 (GRCm39) |
Q110L |
unknown |
Het |
| Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,699,318 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
| Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
| Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
| Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
| Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCATTCGAGCAAACACAG -3'
(R):5'- ACTATCATTCCAGAGACTCTCACTC -3'
Sequencing Primer
(F):5'- TTCGAGCAAACACAGTACCATG -3'
(R):5'- ATTCCAGAGACTCTCACTCATTATTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation