Incidental Mutation 'R5920:Atp13a1'
ID |
461527 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a1
|
Ensembl Gene |
ENSMUSG00000031862 |
Gene Name |
ATPase type 13A1 |
Synonyms |
Cgi152, catp, Atp13a |
MMRRC Submission |
044117-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5920 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70243813-70260399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70252746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 689
(E689K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034326]
|
AlphaFold |
Q9EPE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034326
AA Change: E689K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000034326 Gene: ENSMUSG00000031862 AA Change: E689K
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
Pfam:E1-E2_ATPase
|
264 |
515 |
3.2e-24 |
PFAM |
Pfam:Hydrolase
|
524 |
781 |
2.2e-11 |
PFAM |
Pfam:HAD
|
527 |
870 |
2.7e-27 |
PFAM |
low complexity region
|
883 |
894 |
N/A |
INTRINSIC |
transmembrane domain
|
1045 |
1067 |
N/A |
INTRINSIC |
transmembrane domain
|
1093 |
1115 |
N/A |
INTRINSIC |
transmembrane domain
|
1130 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
probably benign |
Het |
|
Other mutations in Atp13a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Atp13a1
|
APN |
8 |
70,249,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00949:Atp13a1
|
APN |
8 |
70,252,653 (GRCm39) |
splice site |
probably benign |
|
IGL01122:Atp13a1
|
APN |
8 |
70,251,555 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02399:Atp13a1
|
APN |
8 |
70,259,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02616:Atp13a1
|
APN |
8 |
70,257,963 (GRCm39) |
missense |
probably benign |
|
IGL03073:Atp13a1
|
APN |
8 |
70,251,152 (GRCm39) |
missense |
probably damaging |
1.00 |
yun_nan
|
UTSW |
8 |
70,251,329 (GRCm39) |
missense |
probably damaging |
1.00 |
P0005:Atp13a1
|
UTSW |
8 |
70,256,397 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0086:Atp13a1
|
UTSW |
8 |
70,250,424 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0384:Atp13a1
|
UTSW |
8 |
70,249,974 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0973:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
R0973:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
R0974:Atp13a1
|
UTSW |
8 |
70,254,794 (GRCm39) |
critical splice donor site |
probably null |
|
R2010:Atp13a1
|
UTSW |
8 |
70,244,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2040:Atp13a1
|
UTSW |
8 |
70,259,702 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2069:Atp13a1
|
UTSW |
8 |
70,252,423 (GRCm39) |
missense |
probably benign |
0.00 |
R4274:Atp13a1
|
UTSW |
8 |
70,257,942 (GRCm39) |
missense |
probably benign |
|
R4288:Atp13a1
|
UTSW |
8 |
70,246,728 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4470:Atp13a1
|
UTSW |
8 |
70,251,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Atp13a1
|
UTSW |
8 |
70,249,490 (GRCm39) |
missense |
probably benign |
0.41 |
R5916:Atp13a1
|
UTSW |
8 |
70,259,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Atp13a1
|
UTSW |
8 |
70,249,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6143:Atp13a1
|
UTSW |
8 |
70,258,010 (GRCm39) |
missense |
probably benign |
|
R6467:Atp13a1
|
UTSW |
8 |
70,259,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Atp13a1
|
UTSW |
8 |
70,252,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R7166:Atp13a1
|
UTSW |
8 |
70,251,966 (GRCm39) |
splice site |
probably null |
|
R7652:Atp13a1
|
UTSW |
8 |
70,258,209 (GRCm39) |
missense |
probably damaging |
0.97 |
R7942:Atp13a1
|
UTSW |
8 |
70,259,870 (GRCm39) |
missense |
probably damaging |
0.96 |
R8014:Atp13a1
|
UTSW |
8 |
70,252,429 (GRCm39) |
nonsense |
probably null |
|
R8228:Atp13a1
|
UTSW |
8 |
70,251,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R8496:Atp13a1
|
UTSW |
8 |
70,250,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8951:Atp13a1
|
UTSW |
8 |
70,246,484 (GRCm39) |
missense |
probably benign |
0.01 |
R9000:Atp13a1
|
UTSW |
8 |
70,254,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Atp13a1
|
UTSW |
8 |
70,256,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Atp13a1
|
UTSW |
8 |
70,252,087 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Atp13a1
|
UTSW |
8 |
70,252,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGACCTCTGCTACATCG -3'
(R):5'- GATCCACTATGGCCTCTGAC -3'
Sequencing Primer
(F):5'- TACATCGCGGCTGTGAAG -3'
(R):5'- TATGGCCTCTGACCACCAG -3'
|
Posted On |
2017-02-28 |