Incidental Mutation 'R5395:Atp13a4'
ID |
426161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
042967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5395 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29275422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039090
AA Change: V354A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094 AA Change: V354A
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
143 |
8.4e-31 |
PFAM |
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
Pfam:E1-E2_ATPase
|
229 |
476 |
1.7e-36 |
PFAM |
Pfam:Hydrolase
|
481 |
769 |
3.9e-11 |
PFAM |
Pfam:HAD
|
484 |
787 |
4.1e-14 |
PFAM |
Pfam:Hydrolase_like2
|
574 |
637 |
1.2e-9 |
PFAM |
transmembrane domain
|
824 |
846 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057018
AA Change: V354A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000060987 Gene: ENSMUSG00000038094 AA Change: V354A
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
9.6e-34 |
PFAM |
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
Pfam:E1-E2_ATPase
|
228 |
476 |
1.6e-34 |
PFAM |
Pfam:Hydrolase
|
481 |
767 |
1.1e-10 |
PFAM |
Pfam:HAD
|
484 |
858 |
3.3e-23 |
PFAM |
Pfam:Cation_ATPase
|
573 |
637 |
4.9e-8 |
PFAM |
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182013
|
SMART Domains |
Protein: ENSMUSP00000138583 Gene: ENSMUSG00000038094
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
84 |
4.2e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182573
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182627
AA Change: V354A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: V354A
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
143 |
2.1e-29 |
PFAM |
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
Pfam:E1-E2_ATPase
|
229 |
476 |
3.9e-35 |
PFAM |
Pfam:Hydrolase
|
481 |
861 |
4.2e-16 |
PFAM |
Pfam:HAD
|
484 |
858 |
1.9e-23 |
PFAM |
Pfam:Hydrolase_like2
|
574 |
637 |
2.2e-8 |
PFAM |
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,874,590 (GRCm39) |
I268V |
probably benign |
Het |
Actn1 |
T |
A |
12: 80,217,477 (GRCm39) |
I782F |
probably benign |
Het |
Adamdec1 |
A |
C |
14: 68,808,352 (GRCm39) |
S333A |
probably benign |
Het |
Agbl5 |
C |
A |
5: 31,047,682 (GRCm39) |
T58N |
probably damaging |
Het |
Apoo-ps |
T |
A |
13: 107,550,993 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef10l |
T |
C |
4: 140,297,601 (GRCm39) |
N277S |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,609,273 (GRCm39) |
E241G |
possibly damaging |
Het |
Bcas3 |
T |
C |
11: 85,716,075 (GRCm39) |
S426P |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,861,175 (GRCm39) |
R48G |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,248,379 (GRCm39) |
S397P |
possibly damaging |
Het |
Ccng2 |
T |
C |
5: 93,417,257 (GRCm39) |
M91T |
possibly damaging |
Het |
Clk3 |
G |
A |
9: 57,660,622 (GRCm39) |
T473M |
probably damaging |
Het |
Cog2 |
T |
A |
8: 125,271,960 (GRCm39) |
H491Q |
probably benign |
Het |
Cyp4f40 |
C |
T |
17: 32,888,827 (GRCm39) |
T202I |
probably benign |
Het |
Dennd1a |
A |
T |
2: 37,692,140 (GRCm39) |
F181I |
probably damaging |
Het |
Fcrl6 |
G |
T |
1: 172,426,287 (GRCm39) |
A170D |
possibly damaging |
Het |
Fev |
T |
C |
1: 74,921,823 (GRCm39) |
|
probably null |
Het |
Flnb |
A |
G |
14: 7,883,881 (GRCm38) |
N369S |
probably benign |
Het |
Flt3 |
A |
G |
5: 147,291,633 (GRCm39) |
F606L |
probably damaging |
Het |
Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,864,165 (GRCm39) |
L192Q |
probably damaging |
Het |
Gjc2 |
A |
T |
11: 59,068,315 (GRCm39) |
C56S |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,889,535 (GRCm39) |
F550L |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,800,928 (GRCm39) |
E422G |
probably benign |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gnb2 |
A |
G |
5: 137,526,788 (GRCm39) |
S334P |
probably damaging |
Het |
Icam2 |
A |
T |
11: 106,273,299 (GRCm39) |
|
probably null |
Het |
Inca1 |
C |
T |
11: 70,581,264 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,431,166 (GRCm39) |
D332G |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,195,455 (GRCm39) |
N234K |
probably benign |
Het |
Mcm5 |
G |
A |
8: 75,849,654 (GRCm39) |
S542N |
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,414,788 (GRCm39) |
N97K |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,638,232 (GRCm39) |
R986H |
possibly damaging |
Het |
Neu2 |
T |
A |
1: 87,524,397 (GRCm39) |
|
probably null |
Het |
Nfatc1 |
G |
A |
18: 80,679,235 (GRCm39) |
P718S |
possibly damaging |
Het |
Nol6 |
G |
A |
4: 41,118,392 (GRCm39) |
|
probably benign |
Het |
Or10j7 |
A |
T |
1: 173,011,247 (GRCm39) |
Y251* |
probably null |
Het |
Otogl |
T |
C |
10: 107,652,999 (GRCm39) |
N1118D |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,021,119 (GRCm39) |
I111K |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
Piwil2 |
G |
T |
14: 70,632,846 (GRCm39) |
N575K |
probably benign |
Het |
Pou4f2 |
T |
A |
8: 79,161,701 (GRCm39) |
I301F |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,438,215 (GRCm39) |
N409S |
probably damaging |
Het |
Ptpn21 |
T |
G |
12: 98,681,376 (GRCm39) |
K86T |
probably damaging |
Het |
Raly |
T |
A |
2: 154,705,927 (GRCm39) |
|
probably null |
Het |
Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
Sdr16c5 |
T |
C |
4: 4,016,277 (GRCm39) |
S50G |
probably benign |
Het |
Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
Slc20a1 |
A |
T |
2: 129,050,257 (GRCm39) |
N472Y |
probably damaging |
Het |
Slc35d1 |
C |
T |
4: 103,068,572 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slc7a8 |
C |
A |
14: 54,970,734 (GRCm39) |
G306* |
probably null |
Het |
Slc9a8 |
T |
A |
2: 167,309,642 (GRCm39) |
F335L |
probably damaging |
Het |
Smyd1 |
T |
G |
6: 71,196,374 (GRCm39) |
K338T |
possibly damaging |
Het |
Snd1 |
T |
A |
6: 28,526,183 (GRCm39) |
V187E |
probably damaging |
Het |
Spag9 |
T |
G |
11: 93,982,577 (GRCm39) |
|
probably null |
Het |
Tnfsf9 |
C |
A |
17: 57,412,592 (GRCm39) |
T54K |
probably benign |
Het |
Trim24 |
T |
G |
6: 37,934,679 (GRCm39) |
V798G |
probably damaging |
Het |
Tyr |
C |
A |
7: 87,121,698 (GRCm39) |
A365S |
probably damaging |
Het |
Usp43 |
T |
A |
11: 67,788,184 (GRCm39) |
|
probably null |
Het |
Vmn2r55 |
T |
C |
7: 12,385,874 (GRCm39) |
D702G |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,105 (GRCm39) |
S315P |
possibly damaging |
Het |
Wdr64 |
T |
A |
1: 175,583,164 (GRCm39) |
F367I |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,702 (GRCm39) |
R173K |
possibly damaging |
Het |
Zfp493 |
T |
A |
13: 67,931,965 (GRCm39) |
C21* |
probably null |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
Zpbp2 |
T |
A |
11: 98,449,039 (GRCm39) |
V275D |
probably damaging |
Het |
|
Other mutations in Atp13a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00563:Atp13a4
|
APN |
16 |
29,222,596 (GRCm39) |
splice site |
probably benign |
|
IGL01577:Atp13a4
|
APN |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01834:Atp13a4
|
APN |
16 |
29,234,595 (GRCm39) |
splice site |
probably benign |
|
IGL02165:Atp13a4
|
APN |
16 |
29,252,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02194:Atp13a4
|
APN |
16 |
29,275,447 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02322:Atp13a4
|
APN |
16 |
29,258,920 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02553:Atp13a4
|
APN |
16 |
29,241,521 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02821:Atp13a4
|
APN |
16 |
29,260,125 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03349:Atp13a4
|
APN |
16 |
29,275,489 (GRCm39) |
missense |
probably benign |
0.01 |
G5030:Atp13a4
|
UTSW |
16 |
29,274,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Atp13a4
|
UTSW |
16 |
29,274,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Atp13a4
|
UTSW |
16 |
29,240,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Atp13a4
|
UTSW |
16 |
29,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R1263:Atp13a4
|
UTSW |
16 |
29,290,771 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1378:Atp13a4
|
UTSW |
16 |
29,239,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1575:Atp13a4
|
UTSW |
16 |
29,228,528 (GRCm39) |
missense |
probably benign |
0.01 |
R1720:Atp13a4
|
UTSW |
16 |
29,227,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R1759:Atp13a4
|
UTSW |
16 |
29,275,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Atp13a4
|
UTSW |
16 |
29,298,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R2030:Atp13a4
|
UTSW |
16 |
29,241,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Atp13a4
|
UTSW |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3409:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R3410:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4032:Atp13a4
|
UTSW |
16 |
29,237,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R4163:Atp13a4
|
UTSW |
16 |
29,360,068 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4652:Atp13a4
|
UTSW |
16 |
29,271,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Atp13a4
|
UTSW |
16 |
29,239,653 (GRCm39) |
intron |
probably benign |
|
R4795:Atp13a4
|
UTSW |
16 |
29,308,826 (GRCm39) |
critical splice donor site |
probably null |
|
R4898:Atp13a4
|
UTSW |
16 |
29,227,779 (GRCm39) |
nonsense |
probably null |
|
R4996:Atp13a4
|
UTSW |
16 |
29,290,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Atp13a4
|
UTSW |
16 |
29,228,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5259:Atp13a4
|
UTSW |
16 |
29,275,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Atp13a4
|
UTSW |
16 |
29,239,706 (GRCm39) |
nonsense |
probably null |
|
R5640:Atp13a4
|
UTSW |
16 |
29,234,649 (GRCm39) |
missense |
probably damaging |
0.98 |
R5809:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5856:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5912:Atp13a4
|
UTSW |
16 |
29,275,389 (GRCm39) |
missense |
probably benign |
0.33 |
R6282:Atp13a4
|
UTSW |
16 |
29,252,822 (GRCm39) |
missense |
probably benign |
0.00 |
R6404:Atp13a4
|
UTSW |
16 |
29,290,719 (GRCm39) |
nonsense |
probably null |
|
R6497:Atp13a4
|
UTSW |
16 |
29,298,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6577:Atp13a4
|
UTSW |
16 |
29,298,659 (GRCm39) |
missense |
probably benign |
0.03 |
R6806:Atp13a4
|
UTSW |
16 |
29,288,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R7229:Atp13a4
|
UTSW |
16 |
29,239,723 (GRCm39) |
missense |
probably benign |
0.05 |
R7438:Atp13a4
|
UTSW |
16 |
29,260,014 (GRCm39) |
missense |
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,290,774 (GRCm39) |
missense |
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,278,305 (GRCm39) |
missense |
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,275,419 (GRCm39) |
missense |
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,215,284 (GRCm39) |
missense |
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,268,735 (GRCm39) |
missense |
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,222,619 (GRCm39) |
missense |
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,222,663 (GRCm39) |
missense |
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,290,720 (GRCm39) |
missense |
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,236,654 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8508:Atp13a4
|
UTSW |
16 |
29,273,587 (GRCm39) |
nonsense |
probably null |
|
R8773:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,273,592 (GRCm39) |
missense |
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,273,508 (GRCm39) |
critical splice donor site |
probably null |
|
R9056:Atp13a4
|
UTSW |
16 |
29,290,706 (GRCm39) |
critical splice donor site |
probably null |
|
R9272:Atp13a4
|
UTSW |
16 |
29,268,797 (GRCm39) |
missense |
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,241,500 (GRCm39) |
missense |
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,227,821 (GRCm39) |
missense |
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,239,659 (GRCm39) |
missense |
unknown |
|
R9497:Atp13a4
|
UTSW |
16 |
29,288,130 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9541:Atp13a4
|
UTSW |
16 |
29,241,544 (GRCm39) |
missense |
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,239,277 (GRCm39) |
missense |
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,228,589 (GRCm39) |
missense |
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,241,405 (GRCm39) |
missense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACTGAGATGCACAGGCCAC -3'
(R):5'- GATTTGCACAGGAAAGGCACTC -3'
Sequencing Primer
(F):5'- GGCCACCGTCAATCAGC -3'
(R):5'- TCCACCCCACAAAGTAAGATTG -3'
|
Posted On |
2016-08-04 |