Incidental Mutation 'R5809:Atp13a4'
| ID |
448937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
043394-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5809 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29252805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 714
(T714S)
|
| 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: T714S
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: T714S
| 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 |
unknown
Transcript: ENSMUST00000057018
AA Change: T695S
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: T695S
| 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 |
unknown
Transcript: ENSMUST00000182168
AA Change: T76S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182357
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182573
AA Change: T352S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182627
AA Change: T714S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: T714S
| 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 |
|
| Meta Mutation Damage Score |
0.1006 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,556 (GRCm39) |
S4G |
unknown |
Het |
| AA623943 |
T |
C |
11: 94,703,828 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
T |
A |
11: 9,243,692 (GRCm39) |
S1852T |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,738,540 (GRCm39) |
C305Y |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,257 (GRCm39) |
V411A |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,054,270 (GRCm39) |
R269H |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,241,708 (GRCm39) |
G58W |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,385,856 (GRCm39) |
N369S |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,465,311 (GRCm39) |
I289L |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,114,592 (GRCm39) |
L1159Q |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,723,521 (GRCm39) |
V770I |
probably benign |
Het |
| Ccdc148 |
T |
A |
2: 58,713,657 (GRCm39) |
H498L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,101,919 (GRCm39) |
Y179* |
probably null |
Het |
| Cela2a |
T |
A |
4: 141,552,864 (GRCm39) |
T38S |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,809,087 (GRCm39) |
N496K |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,117,151 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,552,526 (GRCm39) |
S524P |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,801 (GRCm39) |
S172P |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,847,523 (GRCm39) |
S705P |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,212,445 (GRCm39) |
D1232A |
probably benign |
Het |
| Donson |
T |
C |
16: 91,484,738 (GRCm39) |
N9S |
possibly damaging |
Het |
| Gdf9 |
T |
C |
11: 53,324,381 (GRCm39) |
L50P |
probably benign |
Het |
| Gm10300 |
C |
T |
4: 131,802,458 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
A |
G |
19: 11,482,248 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,924 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam |
T |
A |
9: 37,296,101 (GRCm39) |
S417R |
possibly damaging |
Het |
| Hibch |
T |
A |
1: 52,892,859 (GRCm39) |
L23Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,525,358 (GRCm39) |
R3389C |
probably damaging |
Het |
| Hsp90ab1 |
G |
T |
17: 45,881,575 (GRCm39) |
|
probably benign |
Het |
| Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
| Il12a |
A |
T |
3: 68,602,595 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,477,847 (GRCm39) |
V34A |
probably benign |
Het |
| Intu |
A |
C |
3: 40,634,020 (GRCm39) |
M418L |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,616,192 (GRCm39) |
R460G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,156,036 (GRCm39) |
S240P |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,699 (GRCm39) |
|
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,905 (GRCm39) |
*310Q |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,860 (GRCm39) |
T25A |
probably benign |
Het |
| Pate6 |
C |
T |
9: 35,700,297 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,557,682 (GRCm39) |
S30P |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,082,247 (GRCm39) |
T54S |
probably benign |
Het |
| Pex19 |
T |
C |
1: 171,958,306 (GRCm39) |
V95A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,383,103 (GRCm39) |
I1121V |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,091 (GRCm39) |
I146F |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,104,164 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,160 (GRCm39) |
I167N |
probably damaging |
Het |
| Plekhh1 |
A |
T |
12: 79,125,461 (GRCm39) |
I1241F |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,051,774 (GRCm39) |
D148E |
possibly damaging |
Het |
| Pthlh |
T |
C |
6: 147,158,745 (GRCm39) |
I72V |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,513,067 (GRCm39) |
R880Q |
probably benign |
Het |
| Rrp36 |
T |
C |
17: 46,978,932 (GRCm39) |
K209E |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,381,286 (GRCm39) |
V86A |
probably damaging |
Het |
| Sh2d7 |
A |
C |
9: 54,446,860 (GRCm39) |
S37R |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,288,647 (GRCm39) |
V543E |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,630,296 (GRCm39) |
T117A |
probably benign |
Het |
| Smok2a |
A |
G |
17: 13,445,865 (GRCm39) |
R481G |
possibly damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,699 (GRCm39) |
A126T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,436,979 (GRCm39) |
W1304C |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,116,524 (GRCm39) |
S909P |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,352,880 (GRCm39) |
K773N |
unknown |
Het |
| Tmem156 |
T |
C |
5: 65,232,950 (GRCm39) |
N140S |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,092,589 (GRCm39) |
I107T |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,153,372 (GRCm39) |
Y161C |
probably damaging |
Het |
| Trappc8 |
C |
T |
18: 20,951,139 (GRCm39) |
A1436T |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,855 (GRCm39) |
Y933C |
possibly damaging |
Het |
| Ufm1 |
A |
T |
3: 53,765,303 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,103,931 (GRCm39) |
L725Q |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,345,035 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,946,481 (GRCm39) |
V119M |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,672,431 (GRCm39) |
D16G |
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 |
29,275,422 (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 |
|
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'- CTTGCCTCACGGGATAGATG -3'
(R):5'- TGGGGCAACTCTGTCTTTGAC -3'
Sequencing Primer
(F):5'- AGATGCTTGATGAATAGCTTGCCC -3'
(R):5'- GCAACTCTGTCTTTGACTATCATTAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation