Incidental Mutation 'R0426:Atp10a'
| ID |
38645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
038628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0426 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58434482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 252
(M252T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168747
AA Change: M252T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: M252T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
55 |
114 |
5.2e-23 |
PFAM |
|
Pfam:E1-E2_ATPase
|
120 |
393 |
6.6e-10 |
PFAM |
|
low complexity region
|
633 |
643 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase
|
685 |
791 |
1.5e-7 |
PFAM |
|
Pfam:HAD
|
697 |
1054 |
2.1e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
1071 |
1316 |
1.1e-76 |
PFAM |
|
low complexity region
|
1458 |
1477 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
96% (86/90) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,845,853 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,880,805 (GRCm39) |
F320L |
probably damaging |
Het |
| Acsbg1 |
T |
C |
9: 54,530,030 (GRCm39) |
D222G |
probably benign |
Het |
| Anapc15 |
A |
G |
7: 101,547,240 (GRCm39) |
T39A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,491,519 (GRCm39) |
V919E |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,286 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,003,658 (GRCm39) |
I1091N |
probably benign |
Het |
| Atf1 |
A |
T |
15: 100,130,708 (GRCm39) |
H26L |
possibly damaging |
Het |
| Btbd8 |
C |
T |
5: 107,658,239 (GRCm39) |
T1603I |
probably damaging |
Het |
| Cd55 |
C |
T |
1: 130,376,109 (GRCm39) |
R347H |
probably benign |
Het |
| Cdc27 |
A |
C |
11: 104,403,853 (GRCm39) |
|
probably null |
Het |
| Cdh9 |
G |
A |
15: 16,823,540 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
C |
4: 155,726,969 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,179,737 (GRCm39) |
D567G |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,948,334 (GRCm39) |
Y382* |
probably null |
Het |
| Cgas |
G |
A |
9: 78,343,020 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,901,857 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
G |
A |
15: 82,443,164 (GRCm39) |
D409N |
probably benign |
Het |
| Ddx39a |
A |
G |
8: 84,448,398 (GRCm39) |
T217A |
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,097,934 (GRCm39) |
D733E |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,668,801 (GRCm39) |
S1294P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,542,795 (GRCm39) |
E3539G |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,840,875 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
C |
6: 84,126,739 (GRCm39) |
L1332P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,010,409 (GRCm39) |
D380G |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
| Fhip1b |
A |
C |
7: 105,038,680 (GRCm39) |
C186W |
probably damaging |
Het |
| Galr2 |
C |
A |
11: 116,172,517 (GRCm39) |
A69D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,628 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,262,188 (GRCm39) |
Y1119* |
probably null |
Het |
| Hgd |
A |
T |
16: 37,409,047 (GRCm39) |
|
probably benign |
Het |
| Ildr2 |
G |
T |
1: 166,136,468 (GRCm39) |
V436L |
probably benign |
Het |
| Intu |
G |
A |
3: 40,629,735 (GRCm39) |
C355Y |
probably damaging |
Het |
| Irf2bpl |
G |
T |
12: 86,929,870 (GRCm39) |
P268T |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 44,994,358 (GRCm39) |
|
probably null |
Het |
| Jup |
A |
T |
11: 100,263,227 (GRCm39) |
M716K |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,388,837 (GRCm39) |
V809I |
probably damaging |
Het |
| Kdm1b |
T |
A |
13: 47,217,720 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,577,739 (GRCm39) |
C687Y |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 942,437 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,693,121 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,377,453 (GRCm39) |
K1400* |
probably null |
Het |
| Majin |
A |
G |
19: 6,262,147 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
A |
G |
13: 77,168,940 (GRCm39) |
I846V |
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,875 (GRCm39) |
I286F |
possibly damaging |
Het |
| Neil3 |
T |
G |
8: 54,062,431 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
G |
T |
17: 3,745,838 (GRCm39) |
N23K |
probably damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,860,797 (GRCm39) |
K219E |
probably benign |
Het |
| Or1e29 |
T |
A |
11: 73,667,263 (GRCm39) |
M297L |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,893 (GRCm39) |
I250N |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or6b13 |
A |
C |
7: 139,782,029 (GRCm39) |
F218C |
possibly damaging |
Het |
| Or6d13 |
A |
T |
6: 116,517,446 (GRCm39) |
N11Y |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,889 (GRCm39) |
L54P |
probably damaging |
Het |
| Pacsin2 |
A |
G |
15: 83,263,996 (GRCm39) |
V347A |
possibly damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,475,857 (GRCm39) |
E331V |
probably damaging |
Het |
| Pcid2 |
A |
C |
8: 13,131,262 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
T |
C |
4: 106,307,274 (GRCm39) |
D323G |
possibly damaging |
Het |
| Pdhb |
T |
C |
14: 8,169,801 (GRCm38) |
E203G |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,655,095 (GRCm39) |
Y630C |
probably benign |
Het |
| Pidd1 |
C |
T |
7: 141,019,046 (GRCm39) |
A812T |
probably damaging |
Het |
| Plau |
G |
A |
14: 20,892,382 (GRCm39) |
R389H |
probably benign |
Het |
| Plekhg6 |
G |
A |
6: 125,341,592 (GRCm39) |
|
probably null |
Het |
| Ppox |
T |
C |
1: 171,105,322 (GRCm39) |
Y321C |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,037,065 (GRCm39) |
N281S |
possibly damaging |
Het |
| Pycr3 |
A |
T |
15: 75,790,237 (GRCm39) |
M138K |
probably benign |
Het |
| Radil |
T |
C |
5: 142,483,628 (GRCm39) |
Y526C |
probably damaging |
Het |
| Ranbp3 |
C |
A |
17: 57,014,169 (GRCm39) |
D233E |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,583,721 (GRCm39) |
Q402R |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,410,532 (GRCm39) |
|
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,082,832 (GRCm39) |
L602* |
probably null |
Het |
| Sema5b |
G |
A |
16: 35,466,725 (GRCm39) |
G209D |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,073,333 (GRCm39) |
Y1992C |
possibly damaging |
Het |
| Syncrip |
T |
A |
9: 88,338,312 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,764,242 (GRCm39) |
A65E |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,502,610 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
G |
T |
7: 96,427,058 (GRCm39) |
G698C |
probably damaging |
Het |
| Tmem209 |
G |
A |
6: 30,491,181 (GRCm39) |
L259F |
probably damaging |
Het |
| Tmem247 |
G |
A |
17: 87,225,931 (GRCm39) |
E124K |
possibly damaging |
Het |
| Tnks2 |
C |
A |
19: 36,830,221 (GRCm39) |
A218E |
probably damaging |
Het |
| Tppp |
T |
A |
13: 74,169,430 (GRCm39) |
F57I |
probably damaging |
Het |
| Trim36 |
A |
G |
18: 46,305,592 (GRCm39) |
W452R |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,476 (GRCm39) |
V262E |
probably damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,973,897 (GRCm39) |
A32S |
probably benign |
Het |
| Zfy2 |
G |
T |
Y: 2,107,348 (GRCm39) |
L429I |
possibly damaging |
Het |
|
| Other mutations in Atp10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Atp10a
|
APN |
7 |
58,444,230 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00973:Atp10a
|
APN |
7 |
58,457,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00984:Atp10a
|
APN |
7 |
58,308,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Atp10a
|
APN |
7 |
58,474,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01296:Atp10a
|
APN |
7 |
58,463,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01731:Atp10a
|
APN |
7 |
58,447,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02081:Atp10a
|
APN |
7 |
58,477,604 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02095:Atp10a
|
APN |
7 |
58,457,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Atp10a
|
APN |
7 |
58,469,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02558:Atp10a
|
APN |
7 |
58,469,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02659:Atp10a
|
APN |
7 |
58,463,379 (GRCm39) |
missense |
probably benign |
|
|
IGL02986:Atp10a
|
APN |
7 |
58,478,469 (GRCm39) |
missense |
probably benign |
|
|
IGL03218:Atp10a
|
APN |
7 |
58,438,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4260001:Atp10a
|
UTSW |
7 |
58,440,866 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Atp10a
|
UTSW |
7 |
58,453,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4810001:Atp10a
|
UTSW |
7 |
58,463,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0091:Atp10a
|
UTSW |
7 |
58,423,794 (GRCm39) |
splice site |
probably benign |
|
|
R0349:Atp10a
|
UTSW |
7 |
58,453,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0609:Atp10a
|
UTSW |
7 |
58,469,488 (GRCm39) |
splice site |
probably null |
|
|
R0722:Atp10a
|
UTSW |
7 |
58,465,931 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0741:Atp10a
|
UTSW |
7 |
58,478,337 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1172:Atp10a
|
UTSW |
7 |
58,453,514 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1342:Atp10a
|
UTSW |
7 |
58,465,894 (GRCm39) |
splice site |
probably benign |
|
|
R1648:Atp10a
|
UTSW |
7 |
58,434,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1715:Atp10a
|
UTSW |
7 |
58,436,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1737:Atp10a
|
UTSW |
7 |
58,476,986 (GRCm39) |
splice site |
probably benign |
|
|
R1799:Atp10a
|
UTSW |
7 |
58,474,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Atp10a
|
UTSW |
7 |
58,478,460 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1918:Atp10a
|
UTSW |
7 |
58,477,683 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2031:Atp10a
|
UTSW |
7 |
58,477,678 (GRCm39) |
nonsense |
probably null |
|
|
R2080:Atp10a
|
UTSW |
7 |
58,474,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2424:Atp10a
|
UTSW |
7 |
58,444,303 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2696:Atp10a
|
UTSW |
7 |
58,463,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3932:Atp10a
|
UTSW |
7 |
58,476,852 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4198:Atp10a
|
UTSW |
7 |
58,463,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4453:Atp10a
|
UTSW |
7 |
58,308,248 (GRCm39) |
small deletion |
probably benign |
|
|
R4632:Atp10a
|
UTSW |
7 |
58,457,186 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4661:Atp10a
|
UTSW |
7 |
58,308,248 (GRCm39) |
small deletion |
probably benign |
|
|
R4782:Atp10a
|
UTSW |
7 |
58,440,843 (GRCm39) |
missense |
probably benign |
|
|
R4888:Atp10a
|
UTSW |
7 |
58,435,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Atp10a
|
UTSW |
7 |
58,463,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Atp10a
|
UTSW |
7 |
58,389,994 (GRCm39) |
frame shift |
probably null |
|
|
R5213:Atp10a
|
UTSW |
7 |
58,423,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5617:Atp10a
|
UTSW |
7 |
58,453,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5834:Atp10a
|
UTSW |
7 |
58,308,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5885:Atp10a
|
UTSW |
7 |
58,463,548 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6013:Atp10a
|
UTSW |
7 |
58,447,538 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6136:Atp10a
|
UTSW |
7 |
58,478,088 (GRCm39) |
missense |
probably benign |
|
|
R6269:Atp10a
|
UTSW |
7 |
58,453,487 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6380:Atp10a
|
UTSW |
7 |
58,469,432 (GRCm39) |
nonsense |
probably null |
|
|
R6743:Atp10a
|
UTSW |
7 |
58,447,562 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6875:Atp10a
|
UTSW |
7 |
58,447,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6975:Atp10a
|
UTSW |
7 |
58,423,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Atp10a
|
UTSW |
7 |
58,308,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Atp10a
|
UTSW |
7 |
58,436,221 (GRCm39) |
missense |
probably benign |
|
|
R7224:Atp10a
|
UTSW |
7 |
58,447,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7287:Atp10a
|
UTSW |
7 |
58,477,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Atp10a
|
UTSW |
7 |
58,308,288 (GRCm39) |
missense |
unknown |
|
|
R7474:Atp10a
|
UTSW |
7 |
58,308,275 (GRCm39) |
missense |
unknown |
|
|
R7530:Atp10a
|
UTSW |
7 |
58,423,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Atp10a
|
UTSW |
7 |
58,476,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7743:Atp10a
|
UTSW |
7 |
58,453,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Atp10a
|
UTSW |
7 |
58,308,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Atp10a
|
UTSW |
7 |
58,438,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Atp10a
|
UTSW |
7 |
58,308,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Atp10a
|
UTSW |
7 |
58,453,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8166:Atp10a
|
UTSW |
7 |
58,457,270 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8201:Atp10a
|
UTSW |
7 |
58,469,424 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Atp10a
|
UTSW |
7 |
58,478,058 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8858:Atp10a
|
UTSW |
7 |
58,465,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Atp10a
|
UTSW |
7 |
58,438,092 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9003:Atp10a
|
UTSW |
7 |
58,457,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Atp10a
|
UTSW |
7 |
58,478,369 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9385:Atp10a
|
UTSW |
7 |
58,477,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9432:Atp10a
|
UTSW |
7 |
58,469,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9454:Atp10a
|
UTSW |
7 |
58,308,339 (GRCm39) |
missense |
probably benign |
|
|
R9596:Atp10a
|
UTSW |
7 |
58,477,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Atp10a
|
UTSW |
7 |
58,474,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Atp10a
|
UTSW |
7 |
58,438,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCCTGCAACTACAGAATTGG -3'
(R):5'- GGAGCCTACAGAGCAATTATGCTGG -3'
Sequencing Primer
(F):5'- CAGAATTGGCACTTTCTGTAGTC -3'
(R):5'- GCTGGATTTCAGCTCTCTAAGAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation