Incidental Mutation 'IGL02142:Atp13a5'
| ID |
281636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29053315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1084
(V1084A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000089824]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075806
AA Change: V1129A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: V1129A
| 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 |
probably benign
Transcript: ENSMUST00000143373
AA Change: V1084A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: V1084A
| 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 |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,963,575 (GRCm39) |
S2060P |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,189,014 (GRCm39) |
F426S |
probably benign |
Het |
| Actn1 |
C |
T |
12: 80,222,929 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
T |
A |
5: 129,208,648 (GRCm39) |
H251Q |
probably benign |
Het |
| Adgrg3 |
C |
T |
8: 95,766,483 (GRCm39) |
P385S |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,987,660 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,155,360 (GRCm39) |
S86P |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,123 (GRCm39) |
E121K |
probably null |
Het |
| Atad5 |
G |
A |
11: 79,985,023 (GRCm39) |
E37K |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,241,507 (GRCm39) |
I626T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,440 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
G |
8: 21,653,130 (GRCm39) |
C81G |
possibly damaging |
Het |
| Dnm2 |
A |
G |
9: 21,411,649 (GRCm39) |
Y622C |
probably damaging |
Het |
| Efna5 |
T |
A |
17: 62,914,340 (GRCm39) |
L201F |
unknown |
Het |
| Elac1 |
T |
C |
18: 73,871,991 (GRCm39) |
R335G |
probably benign |
Het |
| Enpp5 |
T |
C |
17: 44,396,468 (GRCm39) |
V460A |
probably benign |
Het |
| Esr2 |
A |
G |
12: 76,169,969 (GRCm39) |
V453A |
probably benign |
Het |
| Fam210b |
T |
A |
2: 172,194,497 (GRCm39) |
|
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,736,248 (GRCm39) |
V176A |
probably damaging |
Het |
| Gabrq |
T |
A |
X: 71,879,783 (GRCm39) |
V256E |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,113,148 (GRCm39) |
L193P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Helq |
A |
G |
5: 100,930,960 (GRCm39) |
F597L |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,204 (GRCm39) |
I162L |
probably damaging |
Het |
| Jph1 |
A |
T |
1: 17,161,884 (GRCm39) |
F259L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,225,253 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
C |
13: 46,925,011 (GRCm39) |
T308A |
probably benign |
Het |
| Lars1 |
C |
T |
18: 42,360,345 (GRCm39) |
V704M |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,969,394 (GRCm39) |
L343P |
possibly damaging |
Het |
| Lhfpl1 |
A |
G |
X: 144,123,733 (GRCm39) |
F125L |
probably benign |
Het |
| Lmbrd2 |
C |
A |
15: 9,186,772 (GRCm39) |
D582E |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,842 (GRCm39) |
D1408G |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,923,219 (GRCm39) |
K1166R |
probably benign |
Het |
| Marchf5 |
T |
C |
19: 37,197,892 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
G |
A |
19: 11,087,695 (GRCm39) |
Q79* |
probably null |
Het |
| Naa25 |
A |
G |
5: 121,564,825 (GRCm39) |
Q555R |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,207 (GRCm39) |
T1005A |
probably benign |
Het |
| Nt5c3 |
G |
A |
6: 56,863,670 (GRCm39) |
A108V |
probably damaging |
Het |
| Ocrl |
T |
A |
X: 47,024,995 (GRCm39) |
M322K |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,214,601 (GRCm39) |
W733C |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,935 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psg23 |
A |
T |
7: 18,344,345 (GRCm39) |
V370E |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,838,353 (GRCm39) |
M311K |
possibly damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,614 (GRCm39) |
Y501H |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,083,488 (GRCm39) |
D179G |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,182 (GRCm39) |
I915N |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,356,965 (GRCm39) |
T160S |
possibly damaging |
Het |
| Slx4ip |
T |
G |
2: 136,909,942 (GRCm39) |
N242K |
possibly damaging |
Het |
| Spidr |
T |
A |
16: 15,865,945 (GRCm39) |
Q288L |
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,216,918 (GRCm39) |
H255L |
possibly damaging |
Het |
| Tacc1 |
C |
T |
8: 25,665,233 (GRCm39) |
G51S |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,185,900 (GRCm39) |
N1179I |
possibly damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,101,752 (GRCm39) |
Y349C |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,751,414 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,736 (GRCm39) |
L431P |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,656,334 (GRCm39) |
L112S |
probably damaging |
Het |
| Vmn2r100 |
A |
C |
17: 19,742,583 (GRCm39) |
H319P |
probably damaging |
Het |
| Wdr20rt |
A |
G |
12: 65,274,039 (GRCm39) |
T328A |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,293 (GRCm39) |
Y413H |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation