Incidental Mutation 'R5809:Atp13a4'
| ID |
448937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
043394-MU
|
| Accession Numbers |
Genbank: NM_001164612, NM_172613, NM_001164613 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5809 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29433987 bp (GRCm38)
|
| 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 |
|---|
| 2810403A07Rik |
A |
G |
3: 88,708,885 |
R460G |
probably damaging |
Het |
| A230072I06Rik |
A |
G |
8: 12,279,556 |
S4G |
unknown |
Het |
| AA623943 |
T |
C |
11: 94,813,002 |
|
noncoding transcript |
Het |
| Abca13 |
T |
A |
11: 9,293,692 |
S1852T |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,909,474 |
C305Y |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,870,257 |
V411A |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,126,548 |
R269H |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,350,882 |
G58W |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,237,990 |
N369S |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,743,354 |
I289L |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,670,374 |
N4388T |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,464,844 |
L1159Q |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,504,547 |
V770I |
probably benign |
Het |
| Ccdc148 |
T |
A |
2: 58,823,645 |
H498L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,460,126 |
Y179* |
probably null |
Het |
| Cela2a |
T |
A |
4: 141,825,553 |
T38S |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,933,341 |
N496K |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,417,726 |
Y251C |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,661,700 |
S524P |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,872,801 |
S172P |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,847,377 |
S705P |
probably damaging |
Het |
| D730048I06Rik |
C |
T |
9: 35,789,001 |
C96Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,262,445 |
D1232A |
probably benign |
Het |
| Donson |
T |
C |
16: 91,687,850 |
N9S |
possibly damaging |
Het |
| Gdf9 |
T |
C |
11: 53,433,554 |
L50P |
probably benign |
Het |
| Gm10300 |
C |
T |
4: 132,075,147 |
|
probably benign |
Het |
| Gm8369 |
A |
G |
19: 11,504,884 |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 49,901,888 |
|
noncoding transcript |
Het |
| Hepacam |
T |
A |
9: 37,384,805 |
S417R |
possibly damaging |
Het |
| Hibch |
T |
A |
1: 52,853,700 |
L23Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,649,607 |
R3389C |
probably damaging |
Het |
| Hsp90ab1 |
G |
T |
17: 45,570,649 |
|
probably benign |
Het |
| Hunk |
C |
A |
16: 90,475,903 |
T365K |
probably damaging |
Het |
| Il12a |
A |
T |
3: 68,695,262 |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,576,349 |
V34A |
probably benign |
Het |
| Intu |
A |
C |
3: 40,679,590 |
M418L |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,179,073 |
S240P |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,512,290 |
D100N |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,930,850 |
|
probably benign |
Het |
| Olfr181 |
T |
C |
16: 58,926,497 |
T25A |
probably benign |
Het |
| Olfr739 |
T |
C |
14: 50,425,448 |
*310Q |
probably null |
Het |
| Pax7 |
A |
G |
4: 139,830,371 |
S30P |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,093,808 |
T54S |
probably benign |
Het |
| Pex19 |
T |
C |
1: 172,130,739 |
V95A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,519,707 |
I1121V |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,141,784 |
I146F |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,262,244 |
Y278H |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,696,001 |
I167N |
probably damaging |
Het |
| Plekhh1 |
A |
T |
12: 79,078,687 |
I1241F |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,167,571 |
D148E |
possibly damaging |
Het |
| Pthlh |
T |
C |
6: 147,257,247 |
I72V |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,785,756 |
R880Q |
probably benign |
Het |
| Rrp36 |
T |
C |
17: 46,668,006 |
K209E |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,304,222 |
V86A |
probably damaging |
Het |
| Sh2d7 |
A |
C |
9: 54,539,576 |
S37R |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,397,821 |
V543E |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,591,137 |
T117A |
probably benign |
Het |
| Smok2a |
A |
G |
17: 13,226,978 |
R481G |
possibly damaging |
Het |
| Smr2 |
G |
A |
5: 88,108,840 |
A126T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,460,045 |
W1304C |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,116,524 |
S909P |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,445,573 |
K773N |
unknown |
Het |
| Tmem156 |
T |
C |
5: 65,075,607 |
N140S |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,115,654 |
I107T |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,511,579 |
Y161C |
probably damaging |
Het |
| Trappc8 |
C |
T |
18: 20,818,082 |
A1436T |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,965,511 |
Y933C |
possibly damaging |
Het |
| Ufm1 |
A |
T |
3: 53,857,882 |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 14,883,669 |
L725Q |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,305,876 |
D1138G |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,946,481 |
V119M |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,722,431 |
D16G |
probably damaging |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,403,778 (GRCm38) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,415,777 (GRCm38) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,434,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,456,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,440,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,422,703 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,441,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,456,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,455,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Atp13a4
|
UTSW |
16 |
29,455,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,421,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,454,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,471,953 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,420,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,409,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,408,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,456,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,479,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,422,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,418,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,541,250 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,452,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,420,835 (GRCm38) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,490,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,408,961 (GRCm38) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,472,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,409,868 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,456,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,456,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,420,888 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,415,831 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,456,571 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,434,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,471,901 (GRCm38) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,479,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,479,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,469,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,420,905 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,441,196 (GRCm38) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,471,956 (GRCm38) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,459,487 (GRCm38) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,456,601 (GRCm38) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,396,466 (GRCm38) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,449,917 (GRCm38) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,403,801 (GRCm38) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,403,845 (GRCm38) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,471,902 (GRCm38) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,417,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,454,769 (GRCm38) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,454,774 (GRCm38) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,454,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,471,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,449,979 (GRCm38) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,422,682 (GRCm38) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,409,003 (GRCm38) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,420,841 (GRCm38) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,469,312 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,422,726 (GRCm38) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,420,459 (GRCm38) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,409,771 (GRCm38) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,422,587 (GRCm38) |
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