Incidental Mutation 'R6372:Atp13a3'
| ID |
513602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| MMRRC Submission |
044522-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.497)
|
| Stock # |
R6372 (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 30162273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 696
(H696R)
|
| 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: H696R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: H696R
| 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: H696R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: H696R
| 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 |
|
| Meta Mutation Damage Score |
0.1260 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
| Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,696,882 (GRCm39) |
V917A |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
| Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
| Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
| Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
| Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
| Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
| Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
| Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,693,355 (GRCm39) |
D259G |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
| Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
| Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,322,566 (GRCm39) |
V112A |
probably damaging |
Het |
| Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
| Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
| Taf4b |
T |
G |
18: 14,937,790 (GRCm39) |
V258G |
probably damaging |
Het |
| Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
| Tnk2 |
T |
A |
16: 32,498,603 (GRCm39) |
W639R |
probably damaging |
Het |
| Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
| Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
| Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
| Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
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 |
|
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'- TATTCCTAGAACATGACTGACACAC -3'
(R):5'- AAACATGGAGGCTCTGGATAC -3'
Sequencing Primer
(F):5'- GTGACTCTAGTTCACGGATCAC -3'
(R):5'- GGATACAGTTTTGACGTCAGCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation