Incidental Mutation 'R5876:Atp13a3'
| ID |
455558 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5876 (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 A
at 30181552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 23
(N23Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
[ENSMUST00000229616]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061350
AA Change: N23Y
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: N23Y
| 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: N23Y
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: N23Y
| 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: ENSMUST00000153656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229616
AA Change: N23Y
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| 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 |
|---|
| 1700034E13Rik |
A |
G |
18: 52,796,654 (GRCm39) |
D64G |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 126,016,242 (GRCm39) |
M925K |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,996,720 (GRCm39) |
T69A |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,262,810 (GRCm39) |
N229K |
possibly damaging |
Het |
| Cbr4 |
G |
A |
8: 61,943,627 (GRCm39) |
G91R |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,406,244 (GRCm39) |
C624S |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,209 (GRCm39) |
Y645C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,321,259 (GRCm39) |
V518I |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,821 (GRCm39) |
T761A |
possibly damaging |
Het |
| Cpne4 |
C |
A |
9: 104,802,969 (GRCm39) |
S204R |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,740,849 (GRCm39) |
W1279R |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,819,037 (GRCm39) |
P1731S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,004,051 (GRCm39) |
V892D |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,298,182 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,399,132 (GRCm39) |
D657V |
possibly damaging |
Het |
| Fam83e |
T |
A |
7: 45,371,787 (GRCm39) |
|
probably null |
Het |
| Fbxo4 |
A |
T |
15: 4,007,301 (GRCm39) |
I121N |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,859,647 (GRCm39) |
S202P |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,640,146 (GRCm39) |
I788N |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,599,319 (GRCm39) |
N53Y |
probably damaging |
Het |
| Hipk2 |
A |
C |
6: 38,707,802 (GRCm39) |
|
probably null |
Het |
| Hps5 |
T |
C |
7: 46,438,620 (GRCm39) |
T38A |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,391,843 (GRCm39) |
D315G |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 117,996,073 (GRCm39) |
M985I |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,491 (GRCm39) |
S295P |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,720,791 (GRCm39) |
D413E |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,164,657 (GRCm39) |
F319L |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,910 (GRCm39) |
Y411N |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,203,711 (GRCm39) |
E1863* |
probably null |
Het |
| Mrps9 |
A |
G |
1: 42,934,538 (GRCm39) |
E173G |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,191 (GRCm39) |
I51F |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,850,528 (GRCm39) |
T692A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,441,984 (GRCm39) |
H3641L |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,140,465 (GRCm39) |
T421A |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,505,391 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,787,975 (GRCm39) |
|
probably benign |
Het |
| Proz |
A |
G |
8: 13,123,448 (GRCm39) |
R240G |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,624,826 (GRCm39) |
D43E |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,637,525 (GRCm39) |
K135N |
probably damaging |
Het |
| Ska1 |
G |
A |
18: 74,330,599 (GRCm39) |
T201M |
probably damaging |
Het |
| Slc35f5 |
A |
C |
1: 125,515,100 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,842 (GRCm39) |
L510P |
probably damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,716 (GRCm39) |
E237G |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,828 (GRCm39) |
K1231E |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,813,439 (GRCm39) |
S1628P |
possibly damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,229,023 (GRCm39) |
D260V |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,678,396 (GRCm39) |
R73L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,917,207 (GRCm39) |
I3684V |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,280,189 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
A |
1: 37,115,520 (GRCm39) |
I328N |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,687,366 (GRCm39) |
V222M |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,985,439 (GRCm39) |
T530S |
probably damaging |
Het |
| Zc3h6 |
C |
T |
2: 128,835,197 (GRCm39) |
S111F |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,718 (GRCm39) |
P137S |
probably benign |
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 |
|
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 |
|
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'- ACGCATGGACTTACAGTTGTC -3'
(R):5'- TGGAAGGGTCTGTATGAAACACTG -3'
Sequencing Primer
(F):5'- GACTTACAGTTGTCCTGAGAAGCAC -3'
(R):5'- AGGACCCAGGTTTGATTCTTAGCAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation