Incidental Mutation 'R7086:Atp13a3'
| ID |
549921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| MMRRC Submission |
045180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
R7086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30169881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 399
(D399G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061350
AA Change: D399G
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: D399G
| 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 |
possibly damaging
Transcript: ENSMUST00000100013
AA Change: D399G
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: D399G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,068,635 (GRCm39) |
H28R |
probably damaging |
Het |
| Adgre4 |
T |
C |
17: 56,127,649 (GRCm39) |
I563T |
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,597,746 (GRCm39) |
C75S |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,787,873 (GRCm39) |
V299I |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,718,536 (GRCm39) |
C1442S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,554,414 (GRCm39) |
Y666N |
probably damaging |
Het |
| Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
| Cfap91 |
A |
T |
16: 38,127,219 (GRCm39) |
F512L |
possibly damaging |
Het |
| Chrng |
C |
A |
1: 87,138,735 (GRCm39) |
R455S |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,402 (GRCm39) |
H151R |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,558,166 (GRCm39) |
H1155Q |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,946,773 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
G |
A |
17: 29,378,051 (GRCm39) |
P576L |
unknown |
Het |
| Crocc |
C |
A |
4: 140,774,368 (GRCm39) |
V144L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,324,669 (GRCm39) |
V2781A |
probably damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,355 (GRCm39) |
F326L |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,395,333 (GRCm39) |
|
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,124,781 (GRCm39) |
I1083T |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,789,285 (GRCm39) |
R3303G |
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,357,739 (GRCm39) |
R3191S |
probably benign |
Het |
| Fgfbp3 |
T |
G |
19: 36,896,103 (GRCm39) |
S172R |
possibly damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,386 (GRCm39) |
V829I |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,759,750 (GRCm39) |
D647G |
probably damaging |
Het |
| H2-Q7 |
T |
A |
17: 35,658,461 (GRCm39) |
V33E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
| Kcnip1 |
G |
T |
11: 33,584,629 (GRCm39) |
P175T |
probably damaging |
Het |
| Klhl10 |
T |
C |
11: 100,347,768 (GRCm39) |
V608A |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,275,664 (GRCm39) |
Y80H |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,956,988 (GRCm39) |
|
probably null |
Het |
| Lst1 |
G |
A |
17: 35,404,262 (GRCm39) |
H59Y |
probably damaging |
Het |
| Mphosph8 |
G |
C |
14: 56,905,980 (GRCm39) |
V58L |
possibly damaging |
Het |
| Mpnd |
C |
A |
17: 56,316,457 (GRCm39) |
S45R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,453 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
A |
G |
7: 140,046,341 (GRCm39) |
T76A |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,594 (GRCm39) |
I107V |
probably benign |
Het |
| Phox2a |
A |
G |
7: 101,467,718 (GRCm39) |
Y5C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,704,317 (GRCm39) |
S540P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,767 (GRCm39) |
M1133V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,667,297 (GRCm39) |
M1126V |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,225,186 (GRCm39) |
Y96C |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,368,109 (GRCm39) |
T234A |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,570,409 (GRCm39) |
V668A |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,353 (GRCm39) |
S712P |
probably benign |
Het |
| Rcc2 |
T |
C |
4: 140,435,280 (GRCm39) |
C100R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,589,753 (GRCm39) |
G764V |
unknown |
Het |
| Rlbp1 |
A |
G |
7: 79,029,813 (GRCm39) |
I140T |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,667,794 (GRCm39) |
T261A |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,254,924 (GRCm39) |
S65P |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,690 (GRCm39) |
V920A |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,070,043 (GRCm39) |
S730R |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,027,050 (GRCm39) |
A841V |
probably damaging |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,265 (GRCm39) |
S273G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,969,364 (GRCm39) |
V371A |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,044 (GRCm39) |
V103I |
possibly damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,333,178 (GRCm39) |
T24K |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,923,434 (GRCm39) |
G60D |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,287,185 (GRCm39) |
T335I |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,873 (GRCm39) |
I300N |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,741,056 (GRCm39) |
K403R |
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 |
|
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 |
|
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'- AGAACTTGCAATTTTCCTGCC -3'
(R):5'- CACTGGAGAACTTGTGAAAGCC -3'
Sequencing Primer
(F):5'- AGAACTTGCAATTTTCCTGCCTATGC -3'
(R):5'- GAACTTGTGAAAGCCATAGTAGTTAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation