Incidental Mutation 'R7425:Atp13a5'
ID |
576017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a5
|
Ensembl Gene |
ENSMUSG00000048939 |
Gene Name |
ATPase type 13A5 |
Synonyms |
C630015F21Rik |
MMRRC Submission |
045503-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7425 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 29116278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 613
(Q613*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
AlphaFold |
Q3TYU2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000075806
AA Change: Q613*
|
SMART Domains |
Protein: ENSMUSP00000075204 Gene: ENSMUSG00000048939 AA Change: Q613*
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 null
Transcript: ENSMUST00000142681
AA Change: Q613*
|
SMART Domains |
Protein: ENSMUSP00000118627 Gene: ENSMUSG00000048939 AA Change: Q613*
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 null
Transcript: ENSMUST00000143373
AA Change: Q568*
|
SMART Domains |
Protein: ENSMUSP00000121208 Gene: ENSMUSG00000048939 AA Change: Q568*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,456 (GRCm39) |
E215G |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,572,394 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,104 (GRCm39) |
S797G |
not run |
Het |
Anxa3 |
T |
A |
5: 96,982,680 (GRCm39) |
H259Q |
probably benign |
Het |
Ap3d1 |
T |
A |
10: 80,557,426 (GRCm39) |
Q302L |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,305,682 (GRCm39) |
V1294A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,002,490 (GRCm39) |
H1478Q |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,037,543 (GRCm39) |
H2448L |
probably benign |
Het |
Bmpr2 |
T |
G |
1: 59,906,510 (GRCm39) |
N534K |
probably benign |
Het |
C1qbp |
T |
C |
11: 70,869,072 (GRCm39) |
|
probably null |
Het |
C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
C1ql3 |
T |
G |
2: 13,015,229 (GRCm39) |
K144Q |
possibly damaging |
Het |
C3 |
T |
C |
17: 57,511,039 (GRCm39) |
M1656V |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,052,148 (GRCm39) |
Y252N |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,625,053 (GRCm39) |
I632M |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,757 (GRCm39) |
E776G |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,856,179 (GRCm39) |
V242D |
probably damaging |
Het |
Cd68 |
T |
C |
11: 69,555,938 (GRCm39) |
D200G |
probably benign |
Het |
Cela3a |
T |
C |
4: 137,132,899 (GRCm39) |
N118D |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,309,773 (GRCm39) |
C1609R |
probably damaging |
Het |
Cep85l |
G |
C |
10: 53,177,666 (GRCm39) |
Q458E |
probably damaging |
Het |
Cnga1 |
T |
G |
5: 72,766,868 (GRCm39) |
E190D |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 64,906,066 (GRCm39) |
R847C |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,205,560 (GRCm39) |
Q425* |
probably null |
Het |
Commd9 |
G |
A |
2: 101,730,245 (GRCm39) |
W128* |
probably null |
Het |
Csnk1a1 |
C |
T |
18: 61,718,330 (GRCm39) |
S352L |
unknown |
Het |
Dact2 |
A |
G |
17: 14,416,593 (GRCm39) |
S536P |
probably damaging |
Het |
Ddx25 |
A |
G |
9: 35,465,882 (GRCm39) |
I113T |
probably benign |
Het |
Dscam |
T |
A |
16: 96,430,598 (GRCm39) |
D1630V |
probably damaging |
Het |
Fndc7 |
A |
C |
3: 108,783,975 (GRCm39) |
F211L |
probably benign |
Het |
Fryl |
T |
C |
5: 73,262,091 (GRCm39) |
T559A |
probably damaging |
Het |
Hpx |
C |
A |
7: 105,241,068 (GRCm39) |
D402Y |
probably damaging |
Het |
Ints13 |
A |
G |
6: 146,476,198 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
T |
C |
10: 6,906,066 (GRCm39) |
K76E |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,780,031 (GRCm39) |
Q301P |
probably damaging |
Het |
Lamp3 |
C |
T |
16: 19,518,362 (GRCm39) |
|
probably null |
Het |
Lmod2 |
A |
T |
6: 24,603,475 (GRCm39) |
H150L |
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,826,077 (GRCm39) |
F718S |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,596,287 (GRCm39) |
V1082A |
probably benign |
Het |
Nbas |
G |
T |
12: 13,519,881 (GRCm39) |
V1598L |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,479,870 (GRCm39) |
R671* |
probably null |
Het |
Or4c110 |
A |
T |
2: 88,832,544 (GRCm39) |
F29L |
|
Het |
Or4c58 |
A |
G |
2: 89,674,789 (GRCm39) |
L176P |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,268 (GRCm39) |
L312* |
probably null |
Het |
Or5a3 |
A |
C |
19: 12,400,204 (GRCm39) |
H177P |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,533,398 (GRCm39) |
E4V |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,841,619 (GRCm39) |
N446K |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,320,303 (GRCm39) |
I1433F |
probably benign |
Het |
Pla2g6 |
G |
A |
15: 79,192,933 (GRCm39) |
R245C |
probably damaging |
Het |
Rgl3 |
G |
A |
9: 21,888,123 (GRCm39) |
Q464* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,720,530 (GRCm39) |
D2706G |
probably benign |
Het |
Sbf2 |
G |
A |
7: 109,974,984 (GRCm39) |
Q718* |
probably null |
Het |
Sdad1 |
T |
C |
5: 92,447,980 (GRCm39) |
T252A |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,870,009 (GRCm39) |
L16P |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,212,327 (GRCm39) |
S339P |
possibly damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,667 (GRCm39) |
S287P |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,375,760 (GRCm39) |
I111V |
probably damaging |
Het |
Synm |
A |
C |
7: 67,383,194 (GRCm39) |
S1489R |
probably damaging |
Het |
Tfb2m |
A |
G |
1: 179,365,269 (GRCm39) |
F232L |
probably benign |
Het |
Traf3 |
A |
T |
12: 111,227,095 (GRCm39) |
K328* |
probably null |
Het |
Trim38 |
C |
A |
13: 23,972,365 (GRCm39) |
Q229K |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,951 (GRCm39) |
I2531T |
probably damaging |
Het |
Virma |
T |
A |
4: 11,546,211 (GRCm39) |
I1683N |
possibly damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,551 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r87 |
T |
C |
10: 130,314,761 (GRCm39) |
N275S |
probably damaging |
Het |
Vps13a |
T |
A |
19: 16,701,066 (GRCm39) |
H701L |
probably benign |
Het |
Vrk3 |
T |
A |
7: 44,420,348 (GRCm39) |
|
probably null |
Het |
Zfp993 |
T |
A |
4: 146,742,098 (GRCm39) |
S141T |
possibly damaging |
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 |
R1515:Atp13a5
|
UTSW |
16 |
29,152,792 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
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'- TCACACAAATCGACCTGTTCTC -3'
(R):5'- GGCACTTTGGAGGGTATGAAC -3'
Sequencing Primer
(F):5'- AAATCGACCTGTTCTCTTCACTGG -3'
(R):5'- GAACCCTTTGTCTAGTGTGCATGC -3'
|
Posted On |
2019-10-07 |