Incidental Mutation 'R1613:Atp13a3'
| ID |
176961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| MMRRC Submission |
039650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
R1613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30151118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1064
(Y1064C)
|
| 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: Y1064C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: Y1064C
| 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: Y1064C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: Y1064C
| 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 |
unknown
Transcript: ENSMUST00000229503
AA Change: Y73C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229750
|
| Meta Mutation Damage Score |
0.5348 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
82% (69/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aldh3a1 |
A |
T |
11: 61,105,377 (GRCm39) |
D161V |
probably damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Amfr |
T |
A |
8: 94,725,854 (GRCm39) |
M176L |
probably benign |
Het |
| Amigo1 |
A |
T |
3: 108,095,536 (GRCm39) |
E345V |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,073,578 (GRCm39) |
C271S |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,470,222 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,499,522 (GRCm39) |
I887F |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,547,973 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
T |
A |
15: 92,143,871 (GRCm39) |
V278E |
possibly damaging |
Het |
| Col6a6 |
A |
C |
9: 105,609,410 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
C |
T |
1: 10,203,466 (GRCm39) |
R1016C |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,527,455 (GRCm39) |
Y267C |
probably damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,614,643 (GRCm39) |
V295I |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,640 (GRCm39) |
T122A |
unknown |
Het |
| Dennd10 |
T |
A |
19: 60,810,763 (GRCm39) |
V171D |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,289,311 (GRCm39) |
I2541T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,113,620 (GRCm39) |
A438V |
possibly damaging |
Het |
| Fam178b |
C |
A |
1: 36,639,273 (GRCm39) |
W342L |
probably benign |
Het |
| Fam78a |
G |
T |
2: 31,959,581 (GRCm39) |
N176K |
probably damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,682 (GRCm39) |
K93M |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,953,002 (GRCm39) |
|
probably null |
Het |
| Gm1553 |
G |
A |
10: 82,328,430 (GRCm39) |
|
probably benign |
Het |
| Gm5885 |
G |
A |
6: 133,508,205 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
G |
A |
13: 50,056,474 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxc6 |
C |
T |
15: 102,918,017 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,223,348 (GRCm39) |
T1189A |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,418,205 (GRCm39) |
E55G |
probably damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,527,760 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,114,918 (GRCm39) |
G2356S |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,589 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
C |
7: 89,435,628 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,338 (GRCm39) |
D258G |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,556 (GRCm39) |
D145G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,105 (GRCm39) |
K169R |
probably damaging |
Het |
| Or10j3b |
C |
T |
1: 173,043,434 (GRCm39) |
T72I |
probably benign |
Het |
| Or1ad1 |
T |
A |
11: 50,876,045 (GRCm39) |
N172K |
probably damaging |
Het |
| Or1j20 |
A |
C |
2: 36,760,405 (GRCm39) |
I276L |
possibly damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,520 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,598,149 (GRCm39) |
N170S |
probably damaging |
Het |
| Or4k1 |
A |
C |
14: 50,377,751 (GRCm39) |
L115R |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,407 (GRCm39) |
L200Q |
probably damaging |
Het |
| P4ha3 |
A |
T |
7: 99,962,457 (GRCm39) |
D405V |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,153 (GRCm39) |
D448G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,059 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
T |
C |
7: 141,020,690 (GRCm39) |
E469G |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,684,737 (GRCm39) |
D875G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,050,740 (GRCm39) |
L886P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,391 (GRCm39) |
R1454C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,978 (GRCm39) |
S310P |
unknown |
Het |
| Slc44a5 |
A |
G |
3: 153,963,351 (GRCm39) |
|
probably null |
Het |
| Snx4 |
T |
G |
16: 33,106,416 (GRCm39) |
M283R |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,623,222 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,043,574 (GRCm39) |
L212H |
probably damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,420 (GRCm39) |
K32E |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,442,193 (GRCm39) |
Y473N |
probably damaging |
Het |
| Tlr2 |
C |
G |
3: 83,744,660 (GRCm39) |
L474F |
probably damaging |
Het |
| Tnfrsf4 |
T |
A |
4: 156,100,619 (GRCm39) |
F213I |
probably benign |
Het |
| Trim9 |
A |
T |
12: 70,295,169 (GRCm39) |
I651N |
probably damaging |
Het |
| Vmn1r84 |
T |
A |
7: 12,096,460 (GRCm39) |
I78L |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,356 (GRCm39) |
Y561H |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,901 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,431 (GRCm39) |
N10S |
probably benign |
Het |
| Zfp81 |
A |
T |
17: 33,553,757 (GRCm39) |
H352Q |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,233,374 (GRCm39) |
L66Q |
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 |
|
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 |
|
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'- ACCTGCCTCTCCATGAAAGAATTGC -3'
(R):5'- TAACATTGGCCCCTTGGGAATATGC -3'
Sequencing Primer
(F):5'- ATGTATGTGGCTAAGTAGGATTGC -3'
(R):5'- CCCTTGGGAATATGCTGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation