Incidental Mutation 'R6328:Atp13a3'
| ID |
510833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| MMRRC Submission |
044482-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
R6328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30155053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 964
(F964I)
|
| 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: F964I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: F964I
| 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: F964I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: F964I
| 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 |
probably benign
Transcript: ENSMUST00000229503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229750
|
| Meta Mutation Damage Score |
0.2676 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (57/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
G |
A |
8: 124,688,756 (GRCm39) |
R507W |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,238,586 (GRCm39) |
D80G |
possibly damaging |
Het |
| Actr5 |
A |
G |
2: 158,477,264 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,984,512 (GRCm39) |
T1932I |
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,327,371 (GRCm39) |
T603S |
possibly damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,215,570 (GRCm39) |
T77A |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,319,503 (GRCm39) |
H198R |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,519 (GRCm39) |
R16W |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,406 (GRCm39) |
R1103Q |
probably damaging |
Het |
| Cd59a |
A |
C |
2: 103,941,103 (GRCm39) |
Y27S |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,413 (GRCm39) |
H162R |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,212 (GRCm39) |
E240K |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,814,634 (GRCm39) |
V603A |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,772,980 (GRCm39) |
V359A |
probably benign |
Het |
| Dis3l2 |
T |
A |
1: 86,782,153 (GRCm39) |
S223T |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,679,734 (GRCm39) |
S535G |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,982 (GRCm39) |
K1977* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,165,717 (GRCm39) |
S515T |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,072,179 (GRCm39) |
E2397G |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,096 (GRCm39) |
G262S |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,509 (GRCm39) |
T477S |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,819 (GRCm39) |
E382G |
probably benign |
Het |
| Gltp |
A |
T |
5: 114,808,572 (GRCm39) |
C157S |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,887,905 (GRCm39) |
S378P |
probably damaging |
Het |
| Gulo |
G |
T |
14: 66,240,080 (GRCm39) |
T126K |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,124,836 (GRCm39) |
M251K |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,422,205 (GRCm39) |
D967G |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,858,933 (GRCm39) |
D68E |
probably damaging |
Het |
| Igkv5-39 |
G |
T |
6: 69,877,489 (GRCm39) |
S89* |
probably null |
Het |
| Kctd4 |
C |
A |
14: 76,200,037 (GRCm39) |
|
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,813 (GRCm39) |
Q255R |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,656 (GRCm39) |
I82T |
possibly damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,194 (GRCm39) |
M45L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,869,248 (GRCm39) |
K158I |
possibly damaging |
Het |
| Nufip1 |
C |
T |
14: 76,348,494 (GRCm39) |
P41L |
possibly damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,739 (GRCm39) |
W21R |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,073 (GRCm39) |
E183D |
probably damaging |
Het |
| Pcp2 |
T |
C |
8: 3,674,887 (GRCm39) |
D22G |
probably damaging |
Het |
| Pdk2 |
G |
C |
11: 94,930,228 (GRCm39) |
N69K |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,655,905 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
C |
A |
1: 138,041,416 (GRCm39) |
E148* |
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,108,405 (GRCm39) |
V225E |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,664,458 (GRCm39) |
M725K |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,660 (GRCm39) |
I1867F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,684,581 (GRCm39) |
Q1960L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,064,474 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,381,345 (GRCm39) |
R496* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,878,176 (GRCm39) |
V222I |
probably damaging |
Het |
| Sntg2 |
A |
C |
12: 30,308,013 (GRCm39) |
L224R |
probably damaging |
Het |
| Syt16 |
C |
A |
12: 74,313,467 (GRCm39) |
C464* |
probably null |
Het |
| Tapbpl |
T |
A |
6: 125,201,881 (GRCm39) |
S420C |
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,723,694 (GRCm39) |
E528G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,602,710 (GRCm39) |
T219A |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,981 (GRCm39) |
F467L |
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 |
|
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'- TCCAATCTAGAAAACAGATAGGGC -3'
(R):5'- TGTTATTGGTTAATTCCAGAGTCAG -3'
Sequencing Primer
(F):5'- ACAGATAGGGCAAAAATATAAACCAG -3'
(R):5'- CAGAGGCATTTTCTCAACTGAGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation