Incidental Mutation 'R7224:Atp10a'
| ID |
562025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
045296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58447219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 654
(M654L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168747
AA Change: M654L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: M654L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,943,275 (GRCm39) |
T60M |
probably benign |
Het |
| Actn4 |
C |
T |
7: 28,661,509 (GRCm39) |
A34T |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,041,245 (GRCm39) |
M466V |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,067,868 (GRCm39) |
Y453H |
probably damaging |
Het |
| Amfr |
G |
A |
8: 94,711,484 (GRCm39) |
P351S |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,516,688 (GRCm39) |
T492M |
probably benign |
Het |
| Anxa6 |
A |
G |
11: 54,876,993 (GRCm39) |
F547L |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,318,384 (GRCm39) |
Y394D |
unknown |
Het |
| Atic |
G |
A |
1: 71,610,014 (GRCm39) |
V342I |
probably benign |
Het |
| Atl1 |
C |
A |
12: 70,002,127 (GRCm39) |
T362N |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,503 (GRCm39) |
M241L |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,659,877 (GRCm39) |
V186A |
possibly damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,842 (GRCm39) |
T577A |
probably benign |
Het |
| C8b |
T |
C |
4: 104,637,795 (GRCm39) |
L89P |
probably damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,678 (GRCm39) |
E742* |
probably null |
Het |
| Ccdc162 |
G |
A |
10: 41,437,187 (GRCm39) |
R1741C |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,041,592 (GRCm39) |
V615A |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,047 (GRCm39) |
L395H |
probably damaging |
Het |
| Cnot9 |
A |
G |
1: 74,556,388 (GRCm39) |
T62A |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,441,849 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,436,420 (GRCm39) |
V3974A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,584,196 (GRCm39) |
G533D |
possibly damaging |
Het |
| Eddm13 |
T |
G |
7: 6,271,801 (GRCm39) |
M77R |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,228 (GRCm39) |
S411G |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,782 (GRCm39) |
D725G |
possibly damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,073,595 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
T |
C |
11: 82,783,151 (GRCm39) |
M44T |
probably benign |
Het |
| Gcgr |
A |
T |
11: 120,425,538 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
A |
10: 75,410,110 (GRCm39) |
V14D |
possibly damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,331,447 (GRCm39) |
I198M |
unknown |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm6034 |
T |
A |
17: 36,367,331 (GRCm39) |
S59T |
unknown |
Het |
| Gm6408 |
G |
A |
5: 146,421,180 (GRCm39) |
V270I |
probably benign |
Het |
| Gpr20 |
A |
T |
15: 73,567,981 (GRCm39) |
I136N |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,268,160 (GRCm39) |
E565G |
|
Het |
| Igsf9 |
T |
C |
1: 172,322,349 (GRCm39) |
S515P |
probably damaging |
Het |
| Kbtbd12 |
G |
A |
6: 88,590,965 (GRCm39) |
R416* |
probably null |
Het |
| Kcnd3 |
A |
T |
3: 105,576,400 (GRCm39) |
I615F |
probably damaging |
Het |
| Kcnk7 |
A |
T |
19: 5,756,805 (GRCm39) |
M265L |
probably benign |
Het |
| Klhdc1 |
G |
A |
12: 69,309,923 (GRCm39) |
S275N |
probably damaging |
Het |
| Ldc1 |
C |
G |
4: 130,112,992 (GRCm39) |
A135P |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,302,553 (GRCm39) |
N1871T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,982,134 (GRCm39) |
V169A |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,660,070 (GRCm39) |
I1175T |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,489,369 (GRCm39) |
T537A |
possibly damaging |
Het |
| Mrpl17 |
T |
C |
7: 105,459,209 (GRCm39) |
N129S |
probably damaging |
Het |
| Mup5 |
G |
A |
4: 61,750,622 (GRCm39) |
R174C |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,488,877 (GRCm39) |
R216C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,671 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,974 (GRCm39) |
M74K |
probably damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,912 (GRCm39) |
T55A |
probably benign |
Het |
| Or8b12b |
G |
A |
9: 37,684,711 (GRCm39) |
G252D |
possibly damaging |
Het |
| Osbpl8 |
C |
T |
10: 111,110,872 (GRCm39) |
P458L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,511 (GRCm39) |
E263G |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,895,241 (GRCm39) |
L623P |
|
Het |
| Plxdc1 |
T |
C |
11: 97,823,153 (GRCm39) |
T363A |
possibly damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,287 (GRCm39) |
D111G |
unknown |
Het |
| R3hdm2 |
T |
A |
10: 127,294,022 (GRCm39) |
L172Q |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Rcbtb1 |
C |
G |
14: 59,465,828 (GRCm39) |
I390M |
probably damaging |
Het |
| Romo1 |
G |
A |
2: 155,986,295 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,335,519 (GRCm39) |
Y410H |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,224,724 (GRCm39) |
T327A |
probably benign |
Het |
| Slc30a5 |
A |
G |
13: 100,945,762 (GRCm39) |
V530A |
probably damaging |
Het |
| Slc30a9 |
G |
A |
5: 67,473,044 (GRCm39) |
E43K |
probably benign |
Het |
| Slc38a2 |
A |
C |
15: 96,589,240 (GRCm39) |
L418W |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,276,614 (GRCm39) |
E557G |
possibly damaging |
Het |
| Spata33 |
T |
A |
8: 123,948,737 (GRCm39) |
I123K |
probably damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,714,839 (GRCm39) |
H170L |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,854 (GRCm39) |
|
probably null |
Het |
| Tsr3 |
A |
T |
17: 25,461,569 (GRCm39) |
E302D |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 43,987,266 (GRCm39) |
T188M |
possibly damaging |
Het |
| Usp44 |
A |
G |
10: 93,681,855 (GRCm39) |
I102V |
probably benign |
Het |
| Wasf1 |
A |
G |
10: 40,802,546 (GRCm39) |
N67S |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,681,208 (GRCm39) |
N911S |
probably benign |
Het |
| Zfp467 |
A |
G |
6: 48,421,903 (GRCm39) |
|
probably null |
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 |
|
R0426:Atp10a
|
UTSW |
7 |
58,434,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- GCTTCCATTACAGGTGAGGGTG -3'
(R):5'- ATAGGCTCTGGCTGCATACAC -3'
Sequencing Primer
(F):5'- GAGGTTTGAGCTGAAGTCCCCAG -3'
(R):5'- TCTGGCTGCATACACCAGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation