Incidental Mutation 'R6853:Atp13a5'
ID |
535111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a5
|
Ensembl Gene |
ENSMUSG00000048939 |
Gene Name |
ATPase type 13A5 |
Synonyms |
C630015F21Rik |
MMRRC Submission |
044956-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6853 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29140480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 359
(S359P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
AlphaFold |
Q3TYU2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075806
AA Change: S359P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075204 Gene: ENSMUSG00000048939 AA Change: S359P
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 |
possibly damaging
Transcript: ENSMUST00000142681
AA Change: S359P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118627 Gene: ENSMUSG00000048939 AA Change: S359P
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 |
possibly damaging
Transcript: ENSMUST00000143373
AA Change: S314P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121208 Gene: ENSMUSG00000048939 AA Change: S314P
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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
98% (63/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
G |
T |
15: 12,818,031 (GRCm39) |
D138E |
probably benign |
Het |
Bcam |
T |
C |
7: 19,494,331 (GRCm39) |
D355G |
probably damaging |
Het |
Bmp8a |
C |
A |
4: 123,236,476 (GRCm39) |
W9L |
unknown |
Het |
Cacul1 |
A |
T |
19: 60,517,904 (GRCm39) |
Y334* |
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,242,933 (GRCm39) |
N227K |
probably benign |
Het |
Ceacam2 |
T |
C |
7: 25,217,561 (GRCm39) |
N318S |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,019,833 (GRCm39) |
S553R |
possibly damaging |
Het |
Ctsa |
T |
A |
2: 164,679,284 (GRCm39) |
M331K |
probably benign |
Het |
Cyp2c38 |
T |
A |
19: 39,426,748 (GRCm39) |
Q184H |
probably benign |
Het |
Cyp2c70 |
C |
T |
19: 40,172,364 (GRCm39) |
E93K |
possibly damaging |
Het |
D430041D05Rik |
C |
T |
2: 104,071,500 (GRCm39) |
V1267M |
probably damaging |
Het |
Ddias |
C |
T |
7: 92,508,773 (GRCm39) |
A381T |
possibly damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,935 (GRCm39) |
C2696Y |
probably benign |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,497,738 (GRCm39) |
F256S |
probably damaging |
Het |
Fga |
A |
G |
3: 82,938,219 (GRCm39) |
Y198C |
probably damaging |
Het |
Gabpa |
T |
A |
16: 84,657,387 (GRCm39) |
C421S |
probably damaging |
Het |
Gm21798 |
A |
T |
15: 64,689,714 (GRCm39) |
|
probably benign |
Het |
Gm21798 |
A |
T |
15: 64,689,716 (GRCm39) |
|
probably benign |
Het |
Gm7145 |
A |
C |
1: 117,913,874 (GRCm39) |
N252T |
possibly damaging |
Het |
H2-Q6 |
T |
C |
17: 35,647,335 (GRCm39) |
*327R |
probably null |
Het |
H6pd |
T |
C |
4: 150,066,919 (GRCm39) |
D489G |
probably benign |
Het |
Htra2 |
A |
G |
6: 83,030,812 (GRCm39) |
|
probably benign |
Het |
Ice1 |
T |
G |
13: 70,751,421 (GRCm39) |
E1555A |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,609,402 (GRCm39) |
|
probably null |
Het |
Itih2 |
T |
C |
2: 10,120,077 (GRCm39) |
D320G |
probably damaging |
Het |
Kif1a |
T |
G |
1: 92,967,524 (GRCm39) |
H1129P |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 69,084,915 (GRCm39) |
D609N |
probably damaging |
Het |
Lgals9 |
A |
T |
11: 78,856,832 (GRCm39) |
D248E |
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Msh3 |
A |
G |
13: 92,449,080 (GRCm39) |
|
probably null |
Het |
Mtus2 |
A |
G |
5: 148,043,821 (GRCm39) |
K803R |
probably damaging |
Het |
Oas1a |
T |
A |
5: 121,045,491 (GRCm39) |
I17L |
possibly damaging |
Het |
Or2h2c |
G |
A |
17: 37,422,400 (GRCm39) |
T158I |
probably benign |
Het |
Or5b121 |
T |
A |
19: 13,507,295 (GRCm39) |
I130K |
possibly damaging |
Het |
Or5k15 |
C |
T |
16: 58,710,121 (GRCm39) |
S154N |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,122 (GRCm39) |
S154C |
probably damaging |
Het |
Or7g32 |
T |
G |
9: 19,408,102 (GRCm39) |
Y19* |
probably null |
Het |
Otof |
T |
C |
5: 30,545,583 (GRCm39) |
D539G |
probably damaging |
Het |
Pabpc4 |
T |
C |
4: 123,188,536 (GRCm39) |
Y382H |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,472,566 (GRCm39) |
T859A |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,751 (GRCm39) |
R504H |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,671,755 (GRCm39) |
F2131S |
probably damaging |
Het |
Sik1 |
A |
T |
17: 32,073,180 (GRCm39) |
|
probably null |
Het |
Sis |
A |
G |
3: 72,798,759 (GRCm39) |
I1763T |
possibly damaging |
Het |
Slc39a6 |
A |
G |
18: 24,732,376 (GRCm39) |
I304T |
possibly damaging |
Het |
Slc5a12 |
A |
G |
2: 110,454,539 (GRCm39) |
S367G |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,743,738 (GRCm39) |
W476R |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,920,551 (GRCm39) |
Y429H |
possibly damaging |
Het |
Stt3a |
G |
A |
9: 36,653,023 (GRCm39) |
S553F |
possibly damaging |
Het |
Sult2a1 |
C |
T |
7: 13,535,412 (GRCm39) |
V214I |
possibly damaging |
Het |
Supt6 |
T |
C |
11: 78,123,656 (GRCm39) |
E38G |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,486,502 (GRCm39) |
G990R |
possibly damaging |
Het |
Thop1 |
T |
C |
10: 80,911,495 (GRCm39) |
|
probably null |
Het |
Thumpd2 |
C |
A |
17: 81,372,459 (GRCm39) |
D11Y |
possibly damaging |
Het |
Tmf1 |
T |
G |
6: 97,145,810 (GRCm39) |
I574L |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,879,499 (GRCm39) |
V623A |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
G |
1: 188,643,434 (GRCm39) |
Y4265* |
probably null |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,240,771 (GRCm39) |
L114Q |
probably damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,063 (GRCm39) |
Y187F |
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 |
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 |
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'- AGATGGCAACTTAGAATCAGTTACG -3'
(R):5'- AGTTTCTTGAAACTGGCCCC -3'
Sequencing Primer
(F):5'- GGCAACTTAGAATCAGTTACGTTAGG -3'
(R):5'- TCACCCATTCTGAATAACTACCTGAG -3'
|
Posted On |
2018-09-12 |