Incidental Mutation 'R0278:Atp13a4'
| ID |
24496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
038500-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0278 (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 29273652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 441
(I441T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039090
AA Change: I441T
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I441T
| 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 |
probably damaging
Transcript: ENSMUST00000057018
AA Change: I422T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: I422T
| 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 damaging
Transcript: ENSMUST00000182573
AA Change: I79T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: I441T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I441T
| 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: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,215 (GRCm39) |
S3429R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,600,894 (GRCm39) |
D436G |
probably benign |
Het |
| Acacb |
C |
A |
5: 114,371,320 (GRCm39) |
Y1816* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,872 (GRCm39) |
I657V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,736,020 (GRCm39) |
V214A |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,280,865 (GRCm39) |
R22G |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,148,647 (GRCm39) |
P1234S |
possibly damaging |
Het |
| Cenpu |
G |
A |
8: 47,031,344 (GRCm39) |
A242T |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,644,487 (GRCm39) |
V1267E |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,516 (GRCm39) |
T58A |
probably benign |
Het |
| Ddx6 |
T |
G |
9: 44,542,722 (GRCm39) |
C385G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,305 (GRCm39) |
N2288K |
probably benign |
Het |
| Egfl8 |
A |
T |
17: 34,833,342 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
T |
2: 165,139,287 (GRCm39) |
I420N |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,665,248 (GRCm39) |
F113L |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,525,409 (GRCm39) |
|
probably null |
Het |
| Fbxl13 |
A |
G |
5: 21,728,908 (GRCm39) |
V456A |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,863,592 (GRCm39) |
|
probably null |
Het |
| Fkbpl |
A |
T |
17: 34,864,384 (GRCm39) |
R51* |
probably null |
Het |
| Fn3krp |
G |
A |
11: 121,312,406 (GRCm39) |
V40M |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,380,169 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,091,281 (GRCm39) |
Q511L |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,289 (GRCm39) |
K192E |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,784,204 (GRCm39) |
T282S |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,963 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ica1l |
A |
T |
1: 60,053,155 (GRCm39) |
S128T |
probably benign |
Het |
| Il7r |
A |
T |
15: 9,516,423 (GRCm39) |
I126K |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,516,074 (GRCm39) |
E11G |
probably benign |
Het |
| Klkb1 |
A |
C |
8: 45,725,446 (GRCm39) |
F498V |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,117,178 (GRCm39) |
E2491G |
probably null |
Het |
| Lhfpl2 |
T |
C |
13: 94,310,943 (GRCm39) |
V71A |
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,493,488 (GRCm39) |
I198T |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,885,432 (GRCm39) |
M431L |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,326,424 (GRCm39) |
T519A |
probably benign |
Het |
| Or10w1 |
C |
A |
19: 13,632,128 (GRCm39) |
L112I |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,129 (GRCm39) |
L112H |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,256,028 (GRCm39) |
F178L |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,440,108 (GRCm39) |
L113M |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,440,107 (GRCm39) |
L113Q |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,992,923 (GRCm39) |
Y123* |
probably null |
Het |
| Or7h8 |
G |
T |
9: 20,124,182 (GRCm39) |
C179F |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,980 (GRCm39) |
R624G |
probably damaging |
Het |
| Pex16 |
C |
T |
2: 92,211,401 (GRCm39) |
P325S |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,493,902 (GRCm39) |
M288T |
possibly damaging |
Het |
| Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
| Prss43 |
T |
A |
9: 110,656,430 (GRCm39) |
M39K |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,450 (GRCm39) |
S105P |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,816 (GRCm39) |
S969T |
probably benign |
Het |
| Rad23b |
T |
A |
4: 55,383,575 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl10l |
A |
G |
12: 66,331,130 (GRCm39) |
M1T |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,318,328 (GRCm39) |
S1588P |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,827,052 (GRCm39) |
H602L |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,236,263 (GRCm39) |
S497T |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,929,537 (GRCm39) |
Y365C |
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,882 (GRCm39) |
N20D |
probably benign |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,194 (GRCm39) |
W136L |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,987 (GRCm39) |
I222V |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,644 (GRCm39) |
V198D |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,569 (GRCm39) |
D477G |
possibly damaging |
Het |
| Zfp202 |
C |
A |
9: 40,119,778 (GRCm39) |
H194N |
probably benign |
Het |
| Zfp212 |
C |
T |
6: 47,903,453 (GRCm39) |
R13W |
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 |
|
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 |
|
|
|
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'- CCATGACAGTGATGAATGGCCTGG -3'
(R):5'- GCCACCATTGGCATGGTCTATACTC -3'
Sequencing Primer
(F):5'- GATGAATGGCCTGGGACTG -3'
(R):5'- acagacacacacacgcac -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation