Incidental Mutation 'R1723:Atp13a5'
| ID |
191636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
039755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29051551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 1152
(K1152I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000089824]
[ENSMUST00000142681]
[ENSMUST00000143373]
[ENSMUST00000162747]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075806
AA Change: K1152I
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: K1152I
| 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: ENSMUST00000089824
|
| SMART Domains |
Protein: ENSMUSP00000087257
Gene: ENSMUSG00000022525
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRAT
|
8 |
132 |
6.1e-44 |
PFAM |
|
transmembrane domain
|
140 |
159 |
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 |
possibly damaging
Transcript: ENSMUST00000143373
AA Change: K1107I
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: K1107I
| 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 |
noncoding transcript
Transcript: ENSMUST00000160794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162747
|
| SMART Domains |
Protein: ENSMUSP00000123809
Gene: ENSMUSG00000022525
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRAT
|
13 |
132 |
7.5e-41 |
PFAM |
|
transmembrane domain
|
140 |
159 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3244 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
| Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
| Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,519 (GRCm39) |
D728G |
probably damaging |
Het |
| Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
| Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,748,903 (GRCm39) |
D779V |
probably damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
| Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
| Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
| Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,880,909 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
| Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
| Uckl1 |
T |
A |
2: 181,212,393 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
| Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
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 |
|
|
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'- AGAGAGAAGGGTTTGCAGTTTCCAC -3'
(R):5'- GATAGCAGTAGAGGCAGCATCCTTG -3'
Sequencing Primer
(F):5'- TGAGAGCAATCCTGGTTACAGTC -3'
(R):5'- GAGCTTAGTAGACAGGAAGCTTGG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation