Incidental Mutation 'R1515:Atp13a5'
ID |
168250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a5
|
Ensembl Gene |
ENSMUSG00000048939 |
Gene Name |
ATPase type 13A5 |
Synonyms |
C630015F21Rik |
MMRRC Submission |
039562-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1515 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 29152792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 225
(V225I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
[ENSMUST00000152040]
|
AlphaFold |
Q3TYU2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075806
AA Change: V239I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075204 Gene: ENSMUSG00000048939 AA Change: V239I
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
4.1e-31 |
PFAM |
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
Pfam:E1-E2_ATPase
|
228 |
475 |
1.5e-35 |
PFAM |
Pfam:Hydrolase
|
480 |
759 |
2.7e-11 |
PFAM |
Pfam:HAD
|
483 |
857 |
1.1e-28 |
PFAM |
Pfam:Cation_ATPase
|
564 |
638 |
1.3e-6 |
PFAM |
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
transmembrane domain
|
933 |
950 |
N/A |
INTRINSIC |
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
transmembrane domain
|
1042 |
1061 |
N/A |
INTRINSIC |
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
transmembrane domain
|
1107 |
1129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142681
AA Change: V239I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118627 Gene: ENSMUSG00000048939 AA Change: V239I
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
7.5e-25 |
PFAM |
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
Pfam:E1-E2_ATPase
|
229 |
475 |
1e-36 |
PFAM |
Pfam:Hydrolase
|
480 |
860 |
5.9e-16 |
PFAM |
Pfam:HAD
|
483 |
857 |
4e-27 |
PFAM |
Pfam:Hydrolase_like2
|
565 |
638 |
3.7e-8 |
PFAM |
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143373
|
SMART Domains |
Protein: ENSMUSP00000121208 Gene: ENSMUSG00000048939
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
1e-24 |
PFAM |
Pfam:E1-E2_ATPase
|
196 |
430 |
3.2e-34 |
PFAM |
Pfam:Hydrolase
|
435 |
815 |
9.1e-16 |
PFAM |
Pfam:HAD
|
438 |
812 |
6.2e-27 |
PFAM |
Pfam:Hydrolase_like2
|
520 |
593 |
4.8e-8 |
PFAM |
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
transmembrane domain
|
888 |
905 |
N/A |
INTRINSIC |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
transmembrane domain
|
997 |
1016 |
N/A |
INTRINSIC |
transmembrane domain
|
1025 |
1047 |
N/A |
INTRINSIC |
transmembrane domain
|
1062 |
1084 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152040
AA Change: V225I
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114703 Gene: ENSMUSG00000048939 AA Change: V225I
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
143 |
1.4e-25 |
PFAM |
Cation_ATPase_N
|
149 |
209 |
8.78e0 |
SMART |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
G |
7: 27,336,583 (GRCm39) |
T401A |
probably damaging |
Het |
Arhgap32 |
G |
T |
9: 32,027,498 (GRCm39) |
V23L |
probably benign |
Het |
Atmin |
T |
A |
8: 117,681,579 (GRCm39) |
C193S |
possibly damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,526 (GRCm39) |
V350A |
possibly damaging |
Het |
Birc6 |
G |
T |
17: 74,835,631 (GRCm39) |
E29* |
probably null |
Het |
Bnc2 |
T |
C |
4: 84,332,563 (GRCm39) |
N104S |
probably null |
Het |
C030048H21Rik |
T |
C |
2: 26,147,515 (GRCm39) |
|
probably null |
Het |
Cd320 |
G |
T |
17: 34,066,613 (GRCm39) |
C117F |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,510,133 (GRCm39) |
S542P |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,048 (GRCm39) |
T1587A |
probably benign |
Het |
Defb41 |
T |
C |
1: 18,330,817 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,190,384 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,355 (GRCm39) |
N2836S |
probably benign |
Het |
Dpp8 |
G |
A |
9: 64,986,030 (GRCm39) |
S840N |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,167,758 (GRCm39) |
F111L |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,178,622 (GRCm39) |
I261F |
probably benign |
Het |
Ece1 |
T |
C |
4: 137,678,819 (GRCm39) |
V509A |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,671,808 (GRCm39) |
M103T |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,240,063 (GRCm39) |
H1064R |
probably damaging |
Het |
Engase |
T |
C |
11: 118,377,966 (GRCm39) |
V252A |
possibly damaging |
Het |
F13b |
A |
G |
1: 139,438,703 (GRCm39) |
Y369C |
probably damaging |
Het |
Flii |
T |
C |
11: 60,612,432 (GRCm39) |
|
probably null |
Het |
Fzd10 |
T |
A |
5: 128,679,623 (GRCm39) |
F448I |
probably damaging |
Het |
Gpr35 |
T |
G |
1: 92,910,770 (GRCm39) |
F161V |
probably damaging |
Het |
Gprin2 |
T |
C |
14: 33,917,230 (GRCm39) |
D180G |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,564,521 (GRCm39) |
N501S |
probably benign |
Het |
Hells |
A |
G |
19: 38,956,209 (GRCm39) |
K802E |
probably damaging |
Het |
Il1r1 |
T |
A |
1: 40,332,509 (GRCm39) |
C96* |
probably null |
Het |
Kcnk16 |
T |
A |
14: 20,315,345 (GRCm39) |
I73F |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,472,905 (GRCm39) |
S652P |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,830,763 (GRCm39) |
D1500G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,272,273 (GRCm39) |
F6468L |
probably damaging |
Het |
Mgrn1 |
T |
A |
16: 4,733,644 (GRCm39) |
F198I |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,451,232 (GRCm39) |
T323A |
probably benign |
Het |
N4bp2 |
A |
G |
5: 65,947,841 (GRCm39) |
Y157C |
probably benign |
Het |
Nfkbid |
C |
A |
7: 30,124,781 (GRCm39) |
H190Q |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,313,148 (GRCm39) |
V184A |
possibly damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,044 (GRCm39) |
S237P |
probably damaging |
Het |
Or6c75 |
T |
C |
10: 129,337,460 (GRCm39) |
S236P |
probably damaging |
Het |
Osgin2 |
C |
T |
4: 15,998,380 (GRCm39) |
G414D |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,827 (GRCm39) |
R4097H |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,388,968 (GRCm39) |
L213Q |
probably null |
Het |
Ppfibp1 |
A |
G |
6: 146,928,930 (GRCm39) |
H850R |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,646,257 (GRCm39) |
D148G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 162,079,954 (GRCm39) |
S282T |
probably damaging |
Het |
Sgsm3 |
T |
C |
15: 80,894,457 (GRCm39) |
V536A |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,387,947 (GRCm39) |
Q383L |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,217,701 (GRCm39) |
|
probably null |
Het |
Tmem229b-ps |
T |
A |
10: 53,351,542 (GRCm39) |
|
noncoding transcript |
Het |
Tmod4 |
A |
T |
3: 95,035,990 (GRCm39) |
Y317F |
possibly damaging |
Het |
Trim13 |
T |
C |
14: 61,843,108 (GRCm39) |
M375T |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,892,926 (GRCm39) |
S935P |
probably damaging |
Het |
Umod |
T |
C |
7: 119,064,720 (GRCm39) |
N592D |
probably benign |
Het |
Vmn2r118 |
A |
G |
17: 55,917,643 (GRCm39) |
Y290H |
probably benign |
Het |
Vps26b |
A |
G |
9: 26,924,041 (GRCm39) |
M234T |
probably damaging |
Het |
Zbtb48 |
A |
G |
4: 152,104,658 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
A |
10: 115,252,647 (GRCm39) |
F1320Y |
probably benign |
Het |
Zfp784 |
A |
T |
7: 5,039,039 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Atp13a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Atp13a5
|
APN |
16 |
29,085,766 (GRCm39) |
nonsense |
probably null |
|
IGL00583:Atp13a5
|
APN |
16 |
29,094,205 (GRCm39) |
splice site |
probably benign |
|
IGL01472:Atp13a5
|
APN |
16 |
29,094,175 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01473:Atp13a5
|
APN |
16 |
29,135,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02142:Atp13a5
|
APN |
16 |
29,053,315 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02346:Atp13a5
|
APN |
16 |
29,146,554 (GRCm39) |
nonsense |
probably null |
|
IGL02454:Atp13a5
|
APN |
16 |
29,051,560 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02557:Atp13a5
|
APN |
16 |
29,066,934 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02651:Atp13a5
|
APN |
16 |
29,152,909 (GRCm39) |
splice site |
probably benign |
|
IGL02697:Atp13a5
|
APN |
16 |
29,167,350 (GRCm39) |
missense |
probably benign |
|
IGL02704:Atp13a5
|
APN |
16 |
29,070,080 (GRCm39) |
nonsense |
probably null |
|
IGL02993:Atp13a5
|
APN |
16 |
29,112,322 (GRCm39) |
nonsense |
probably null |
|
IGL03329:Atp13a5
|
APN |
16 |
29,152,883 (GRCm39) |
nonsense |
probably null |
|
IGL03346:Atp13a5
|
APN |
16 |
29,133,422 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03493:Atp13a5
|
APN |
16 |
29,116,342 (GRCm39) |
missense |
probably benign |
|
PIT4810001:Atp13a5
|
UTSW |
16 |
29,133,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Atp13a5
|
UTSW |
16 |
29,167,573 (GRCm39) |
splice site |
probably benign |
|
R0393:Atp13a5
|
UTSW |
16 |
29,085,681 (GRCm39) |
splice site |
probably benign |
|
R0456:Atp13a5
|
UTSW |
16 |
29,051,492 (GRCm39) |
missense |
probably benign |
0.03 |
R0526:Atp13a5
|
UTSW |
16 |
29,167,558 (GRCm39) |
missense |
probably damaging |
0.97 |
R0632:Atp13a5
|
UTSW |
16 |
29,117,026 (GRCm39) |
missense |
probably benign |
0.00 |
R0674:Atp13a5
|
UTSW |
16 |
29,067,102 (GRCm39) |
splice site |
probably benign |
|
R1417:Atp13a5
|
UTSW |
16 |
29,117,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
R1659:Atp13a5
|
UTSW |
16 |
29,112,251 (GRCm39) |
missense |
probably benign |
|
R1723:Atp13a5
|
UTSW |
16 |
29,051,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1779:Atp13a5
|
UTSW |
16 |
29,133,478 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1794:Atp13a5
|
UTSW |
16 |
29,140,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Atp13a5
|
UTSW |
16 |
29,133,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Atp13a5
|
UTSW |
16 |
29,140,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R2282:Atp13a5
|
UTSW |
16 |
29,056,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2356:Atp13a5
|
UTSW |
16 |
29,099,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Atp13a5
|
UTSW |
16 |
29,070,008 (GRCm39) |
missense |
probably benign |
0.00 |
R2497:Atp13a5
|
UTSW |
16 |
29,157,889 (GRCm39) |
nonsense |
probably null |
|
R2517:Atp13a5
|
UTSW |
16 |
29,116,215 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3552:Atp13a5
|
UTSW |
16 |
29,129,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R3685:Atp13a5
|
UTSW |
16 |
29,135,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R3957:Atp13a5
|
UTSW |
16 |
29,117,012 (GRCm39) |
missense |
probably benign |
0.01 |
R4433:Atp13a5
|
UTSW |
16 |
29,100,842 (GRCm39) |
missense |
probably damaging |
0.99 |
R4503:Atp13a5
|
UTSW |
16 |
29,112,346 (GRCm39) |
missense |
probably benign |
0.37 |
R4579:Atp13a5
|
UTSW |
16 |
29,067,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4632:Atp13a5
|
UTSW |
16 |
29,167,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R4718:Atp13a5
|
UTSW |
16 |
29,066,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Atp13a5
|
UTSW |
16 |
29,066,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R4899:Atp13a5
|
UTSW |
16 |
29,197,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Atp13a5
|
UTSW |
16 |
29,152,846 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5011:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5013:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Atp13a5
|
UTSW |
16 |
29,082,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Atp13a5
|
UTSW |
16 |
29,067,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R5485:Atp13a5
|
UTSW |
16 |
29,100,760 (GRCm39) |
critical splice donor site |
probably null |
|
R5598:Atp13a5
|
UTSW |
16 |
29,075,829 (GRCm39) |
intron |
probably benign |
|
R5945:Atp13a5
|
UTSW |
16 |
29,055,995 (GRCm39) |
missense |
probably benign |
0.06 |
R5958:Atp13a5
|
UTSW |
16 |
29,157,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Atp13a5
|
UTSW |
16 |
29,127,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R6214:Atp13a5
|
UTSW |
16 |
29,070,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Atp13a5
|
UTSW |
16 |
29,167,555 (GRCm39) |
missense |
probably benign |
0.10 |
R6376:Atp13a5
|
UTSW |
16 |
29,056,004 (GRCm39) |
missense |
probably benign |
0.00 |
R6431:Atp13a5
|
UTSW |
16 |
29,070,154 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6495:Atp13a5
|
UTSW |
16 |
29,140,440 (GRCm39) |
critical splice donor site |
probably null |
|
R6619:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.05 |
R6853:Atp13a5
|
UTSW |
16 |
29,140,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6932:Atp13a5
|
UTSW |
16 |
29,100,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Atp13a5
|
UTSW |
16 |
29,152,879 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7343:Atp13a5
|
UTSW |
16 |
29,140,567 (GRCm39) |
missense |
probably benign |
0.01 |
R7425:Atp13a5
|
UTSW |
16 |
29,116,278 (GRCm39) |
nonsense |
probably null |
|
R7570:Atp13a5
|
UTSW |
16 |
29,085,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Atp13a5
|
UTSW |
16 |
29,116,226 (GRCm39) |
missense |
probably benign |
0.00 |
R7876:Atp13a5
|
UTSW |
16 |
29,140,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8358:Atp13a5
|
UTSW |
16 |
29,167,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Atp13a5
|
UTSW |
16 |
29,167,820 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8435:Atp13a5
|
UTSW |
16 |
29,099,747 (GRCm39) |
critical splice donor site |
probably null |
|
R8830:Atp13a5
|
UTSW |
16 |
29,066,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Atp13a5
|
UTSW |
16 |
29,146,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R8950:Atp13a5
|
UTSW |
16 |
29,197,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R9222:Atp13a5
|
UTSW |
16 |
29,133,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R9454:Atp13a5
|
UTSW |
16 |
29,133,338 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9756:Atp13a5
|
UTSW |
16 |
29,051,583 (GRCm39) |
frame shift |
probably null |
|
R9769:Atp13a5
|
UTSW |
16 |
29,167,513 (GRCm39) |
nonsense |
probably null |
|
R9797:Atp13a5
|
UTSW |
16 |
29,133,491 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Atp13a5
|
UTSW |
16 |
29,129,600 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Atp13a5
|
UTSW |
16 |
29,100,880 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Atp13a5
|
UTSW |
16 |
29,099,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGCTGCTGCCTTATGAATTG -3'
(R):5'- GGAGGGTTTTAACCTGGAAACTGCC -3'
Sequencing Primer
(F):5'- CTGCCTTATGAATTGTGTGTGAC -3'
(R):5'- CTGCCTCACAGCATATGAATAAATGG -3'
|
Posted On |
2014-04-13 |