Incidental Mutation 'R7712:Atp13a4'
| ID |
594708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
045770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29278305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 298
(C298R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039090
AA Change: C298R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: C298R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: C298R
| 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 |
probably damaging
Transcript: ENSMUST00000182627
AA Change: C298R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: C298R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
C |
5: 114,303,799 (GRCm39) |
D74A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,241,079 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
G |
7: 51,222,805 (GRCm39) |
T455A |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,240,403 (GRCm39) |
I827S |
probably damaging |
Het |
| Arid1a |
G |
A |
4: 133,479,922 (GRCm39) |
A334V |
probably benign |
Het |
| Atp4a |
T |
A |
7: 30,414,978 (GRCm39) |
S256T |
probably damaging |
Het |
| Atp6v1c1 |
G |
A |
15: 38,687,049 (GRCm39) |
V215I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,582,109 (GRCm39) |
F600L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,018,257 (GRCm39) |
Y376F |
possibly damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,347 (GRCm39) |
D986V |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,503,223 (GRCm39) |
F973S |
possibly damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,804,712 (GRCm39) |
Q521* |
probably null |
Het |
| Cd209b |
T |
A |
8: 3,973,299 (GRCm39) |
E158D |
possibly damaging |
Het |
| Cdk14 |
G |
A |
5: 5,430,061 (GRCm39) |
T22I |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,063 (GRCm39) |
I968F |
possibly damaging |
Het |
| Cnot7 |
T |
C |
8: 40,947,122 (GRCm39) |
Y255C |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,475,376 (GRCm39) |
L600H |
probably benign |
Het |
| Cpne7 |
C |
A |
8: 123,850,920 (GRCm39) |
L129M |
probably damaging |
Het |
| Cpxm2 |
G |
T |
7: 131,756,107 (GRCm39) |
P79Q |
possibly damaging |
Het |
| Dhx9 |
T |
A |
1: 153,340,747 (GRCm39) |
N631I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,528 (GRCm39) |
S1879P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,866 (GRCm39) |
N98S |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,595,886 (GRCm39) |
T515A |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gm5796 |
A |
G |
14: 15,379,960 (GRCm39) |
Y90C |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,161,637 (GRCm39) |
H42N |
possibly damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,569 (GRCm39) |
S924P |
probably benign |
Het |
| Hpf1 |
C |
A |
8: 61,358,613 (GRCm39) |
S27* |
probably null |
Het |
| Idua |
T |
G |
5: 108,829,388 (GRCm39) |
D443E |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,357 (GRCm39) |
G816D |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,551 (GRCm39) |
V16E |
unknown |
Het |
| Lpar1 |
T |
A |
4: 58,486,795 (GRCm39) |
M159L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,755,280 (GRCm39) |
D618G |
possibly damaging |
Het |
| Man2b2 |
C |
G |
5: 36,967,658 (GRCm39) |
Q903H |
probably benign |
Het |
| Marchf7 |
A |
T |
2: 60,065,334 (GRCm39) |
K537* |
probably null |
Het |
| Mcoln1 |
T |
C |
8: 3,555,873 (GRCm39) |
F56S |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,832,836 (GRCm39) |
M383K |
probably damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,916 (GRCm39) |
T200S |
probably damaging |
Het |
| Or1f19 |
T |
C |
16: 3,410,295 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,429 (GRCm39) |
I49V |
probably damaging |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdha8 |
A |
C |
18: 37,125,737 (GRCm39) |
D73A |
possibly damaging |
Het |
| Pcdhga8 |
C |
T |
18: 37,860,102 (GRCm39) |
T386M |
possibly damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,407,422 (GRCm39) |
T346N |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,013,349 (GRCm39) |
Q781R |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,815,318 (GRCm39) |
T469S |
possibly damaging |
Het |
| Sectm1a |
G |
A |
11: 120,959,631 (GRCm39) |
L166F |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,120,169 (GRCm39) |
M246L |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,098,806 (GRCm39) |
G1429S |
probably benign |
Het |
| Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
| Sowahb |
C |
T |
5: 93,191,240 (GRCm39) |
S493N |
probably benign |
Het |
| Spc25 |
T |
A |
2: 69,036,481 (GRCm39) |
R7S |
unknown |
Het |
| Sult2b1 |
A |
G |
7: 45,379,620 (GRCm39) |
I308T |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,280,763 (GRCm39) |
N65D |
probably benign |
Het |
| Ttc5 |
A |
T |
14: 51,010,769 (GRCm39) |
S221T |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Wipf1 |
A |
C |
2: 73,274,805 (GRCm39) |
S55R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,530 (GRCm39) |
S970P |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp362 |
A |
T |
4: 128,671,203 (GRCm39) |
H313Q |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,121,420 (GRCm39) |
I158F |
probably benign |
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 |
29,275,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
|
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'- TAGGAAGGTCACACAGCAGC -3'
(R):5'- GTTAGAACTACTGGTGAGGACC -3'
Sequencing Primer
(F):5'- AGCCCTGCCTCTTGTCCTG -3'
(R):5'- AGGACCAGCCTCTCTCTCTACATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation