Incidental Mutation 'R0674:Atp13a5'
| ID |
218595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
038859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0674 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 29067102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075806
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 90.4%
|
| Validation Efficiency |
97% (124/128) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,657,130 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,543,315 (GRCm39) |
M803K |
possibly damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,872,711 (GRCm39) |
I753T |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,237,949 (GRCm39) |
V467M |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,775 (GRCm39) |
V1134E |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
| Cd2ap |
T |
A |
17: 43,156,283 (GRCm39) |
I85F |
possibly damaging |
Het |
| Cd2bp2 |
C |
T |
7: 126,794,008 (GRCm39) |
E94K |
probably damaging |
Het |
| Chrna3 |
C |
A |
9: 54,922,456 (GRCm39) |
A451S |
probably damaging |
Het |
| Cmya5 |
C |
A |
13: 93,229,299 (GRCm39) |
V1930F |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,550 (GRCm39) |
T2229A |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,385,872 (GRCm39) |
L122H |
probably damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,727,393 (GRCm39) |
P96L |
probably damaging |
Het |
| Ddr1 |
G |
T |
17: 36,000,561 (GRCm39) |
S368* |
probably null |
Het |
| E2f1 |
T |
C |
2: 154,406,029 (GRCm39) |
K115E |
probably damaging |
Het |
| Erlec1 |
A |
T |
11: 30,885,073 (GRCm39) |
|
probably benign |
Het |
| Fus |
T |
A |
7: 127,571,948 (GRCm39) |
|
probably benign |
Het |
| Gml |
G |
A |
15: 74,685,709 (GRCm39) |
T92I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,408,474 (GRCm39) |
S4567P |
probably damaging |
Het |
| Iglc2 |
A |
G |
16: 19,017,591 (GRCm39) |
S5P |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,390 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Krt222 |
T |
A |
11: 99,127,086 (GRCm39) |
N178I |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,270,768 (GRCm39) |
T997I |
possibly damaging |
Het |
| Maml1 |
G |
T |
11: 50,148,885 (GRCm39) |
Q952K |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,361 (GRCm39) |
E499G |
probably damaging |
Het |
| Map4k4 |
A |
T |
1: 40,042,975 (GRCm39) |
H118L |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,422,426 (GRCm39) |
D382G |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,707 (GRCm39) |
T510A |
probably benign |
Het |
| Nek6 |
G |
C |
2: 38,448,916 (GRCm39) |
G95R |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,481 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
T |
C |
14: 18,215,086 (GRCm38) |
S309G |
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,611,105 (GRCm39) |
I570F |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,058,049 (GRCm39) |
I331T |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4f14 |
A |
T |
2: 111,743,018 (GRCm39) |
F86I |
probably benign |
Het |
| Or51b6 |
T |
C |
7: 103,556,462 (GRCm39) |
V272A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,006,765 (GRCm39) |
W535R |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,931,781 (GRCm39) |
R202H |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,331,783 (GRCm39) |
N403S |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,924 (GRCm39) |
I180M |
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,767 (GRCm39) |
T304A |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,498,336 (GRCm39) |
T35I |
possibly damaging |
Het |
| Ptx3 |
T |
A |
3: 66,132,148 (GRCm39) |
I223N |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,657,054 (GRCm39) |
|
probably null |
Het |
| Qrsl1 |
A |
G |
10: 43,771,997 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,818 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,030,601 (GRCm39) |
S1342P |
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,608 (GRCm39) |
R267L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,498 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,131 (GRCm39) |
I375T |
probably damaging |
Het |
| Tiparp |
T |
C |
3: 65,460,586 (GRCm39) |
I525T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,108,680 (GRCm39) |
L144P |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,716,930 (GRCm39) |
D111G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,823 (GRCm39) |
T1740A |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,481,911 (GRCm39) |
T367M |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,735 (GRCm39) |
C80R |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,643 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
A |
T |
17: 21,782,108 (GRCm39) |
H652L |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,186,747 (GRCm39) |
L194Q |
probably 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 |
|
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 |
|
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'- GGTTTCCGAAACGGCTTTCCCTTAG -3'
(R):5'- ATCTGCTCTTCACAGGGGACAGAC -3'
Sequencing Primer
(F):5'- CGGCTTTCCCTTAGAAAAAATAAATG -3'
(R):5'- GGACAGACAGGGAATGGTC -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation