Incidental Mutation 'R7743:Atp10a'
| ID |
596657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
045799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7743 (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 58453457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 845
(H845L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: H845L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: H845L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (77/79) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,516 (GRCm39) |
E1235G |
probably damaging |
Het |
| Abtb3 |
A |
T |
10: 85,460,813 (GRCm39) |
I569F |
possibly damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,152 (GRCm39) |
D175G |
probably benign |
Het |
| Adgrf4 |
A |
T |
17: 42,983,453 (GRCm39) |
C76* |
probably null |
Het |
| Agbl3 |
C |
T |
6: 34,823,765 (GRCm39) |
T815I |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,748,383 (GRCm39) |
V488A |
not run |
Het |
| Akip1 |
T |
A |
7: 109,311,035 (GRCm39) |
S192T |
probably benign |
Het |
| Apc2 |
G |
A |
10: 80,140,749 (GRCm39) |
M201I |
probably damaging |
Het |
| Arel1 |
G |
T |
12: 84,987,043 (GRCm39) |
N124K |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,634 (GRCm39) |
Y586H |
probably benign |
Het |
| BC051019 |
A |
G |
7: 109,315,266 (GRCm39) |
Y330H |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,987,916 (GRCm39) |
|
probably null |
Het |
| Cldn14 |
A |
G |
16: 93,716,615 (GRCm39) |
L77S |
probably damaging |
Het |
| Cox15 |
T |
C |
19: 43,728,380 (GRCm39) |
K298E |
possibly damaging |
Het |
| Cpt1b |
G |
T |
15: 89,305,607 (GRCm39) |
D369E |
probably benign |
Het |
| Cpxm1 |
T |
C |
2: 130,235,342 (GRCm39) |
N550S |
probably benign |
Het |
| Csdc2 |
A |
G |
15: 81,833,399 (GRCm39) |
E132G |
possibly damaging |
Het |
| Cyb5d2 |
A |
T |
11: 72,669,702 (GRCm39) |
C219S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,367,278 (GRCm39) |
T480A |
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,983,969 (GRCm39) |
T1319I |
unknown |
Het |
| Gm5773 |
T |
G |
3: 93,680,565 (GRCm39) |
V79G |
probably damaging |
Het |
| Hsf2 |
G |
A |
10: 57,387,431 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,238,608 (GRCm39) |
T64A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,143,176 (GRCm39) |
V316A |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,907,750 (GRCm39) |
D279G |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,716,206 (GRCm39) |
E143G |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,852,122 (GRCm39) |
E856K |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,568,773 (GRCm39) |
T1249A |
unknown |
Het |
| Myh6 |
G |
A |
14: 55,194,607 (GRCm39) |
R721W |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,183,611 (GRCm39) |
I669F |
unknown |
Het |
| N4bp2 |
A |
G |
5: 65,965,802 (GRCm39) |
T1284A |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,905,724 (GRCm39) |
M1T |
probably null |
Het |
| Obscn |
C |
T |
11: 58,990,603 (GRCm39) |
V1657M |
probably damaging |
Het |
| Olfr908 |
A |
G |
9: 38,427,624 (GRCm39) |
T99A |
possibly damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,560 (GRCm39) |
E253G |
possibly damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,638 (GRCm39) |
F104Y |
probably benign |
Het |
| Otud6b |
C |
A |
4: 14,818,389 (GRCm39) |
A171S |
possibly damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,256 (GRCm39) |
D204E |
probably benign |
Het |
| Pdia2 |
T |
C |
17: 26,417,842 (GRCm39) |
S56G |
probably benign |
Het |
| Plcxd1 |
G |
A |
5: 110,250,369 (GRCm39) |
E237K |
possibly damaging |
Het |
| Plekha5 |
A |
T |
6: 140,501,712 (GRCm39) |
R633S |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,586,594 (GRCm39) |
F937L |
possibly damaging |
Het |
| Pth2 |
A |
T |
7: 44,830,733 (GRCm39) |
M6L |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,004,326 (GRCm39) |
K143I |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,427 (GRCm39) |
D487G |
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,494,775 (GRCm39) |
D300E |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,026,048 (GRCm39) |
V1265I |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGAGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
T |
A |
11: 29,683,790 (GRCm39) |
Y1027* |
probably null |
Het |
| Rxfp3 |
A |
G |
15: 11,037,216 (GRCm39) |
L52P |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,293,227 (GRCm39) |
Y830H |
probably benign |
Het |
| Serpinb3d |
C |
T |
1: 107,007,088 (GRCm39) |
V207I |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,190,972 (GRCm39) |
E1006G |
probably damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,661,201 (GRCm39) |
M324I |
possibly damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,535,159 (GRCm39) |
F106I |
probably damaging |
Het |
| Snx14 |
A |
T |
9: 88,280,402 (GRCm39) |
S518T |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,851,935 (GRCm39) |
T330A |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,993,698 (GRCm39) |
H1050L |
probably damaging |
Het |
| Sptssa |
A |
C |
12: 54,703,201 (GRCm39) |
V23G |
possibly damaging |
Het |
| Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
| Tars1 |
A |
C |
15: 11,399,458 (GRCm39) |
|
probably null |
Het |
| Tead3 |
T |
A |
17: 28,551,801 (GRCm39) |
T431S |
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,568,431 (GRCm39) |
E1526K |
possibly damaging |
Het |
| Tnni3 |
G |
A |
7: 4,524,891 (GRCm39) |
P12L |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,614,201 (GRCm39) |
H1207R |
probably benign |
Het |
| Trdn |
G |
T |
10: 33,133,058 (GRCm39) |
E107* |
probably null |
Het |
| Trp63 |
A |
G |
16: 25,701,375 (GRCm39) |
N483S |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,957,762 (GRCm39) |
S1009P |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,804,772 (GRCm39) |
V908A |
probably benign |
Het |
| Tsen34 |
A |
T |
7: 3,697,601 (GRCm39) |
M25L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,781,827 (GRCm39) |
E1073G |
unknown |
Het |
| Uaca |
A |
T |
9: 60,783,677 (GRCm39) |
I1380F |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,774,793 (GRCm39) |
T539A |
probably benign |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,117 (GRCm39) |
M115K |
probably benign |
Het |
| Unc45b |
A |
T |
11: 82,813,726 (GRCm39) |
I378F |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,940,262 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,542,376 (GRCm39) |
L3314Q |
probably benign |
Het |
| Vezt |
A |
G |
10: 93,816,286 (GRCm39) |
L475P |
probably damaging |
Het |
| Vmn2r115 |
C |
T |
17: 23,564,772 (GRCm39) |
Q220* |
probably null |
Het |
| Yap1 |
T |
C |
9: 7,962,379 (GRCm39) |
Q223R |
probably benign |
Het |
| Zdhhc7 |
G |
A |
8: 120,813,467 (GRCm39) |
T114M |
possibly damaging |
Het |
| Zwilch |
A |
C |
9: 64,060,217 (GRCm39) |
C374G |
probably 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 |
|
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 |
|
|
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 |
|
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'- CCTCAATCTTTATGCAGTAGAAGGC -3'
(R):5'- AAGTGGTTCCTCAGACAAGGC -3'
Sequencing Primer
(F):5'- AGTAGAAGGCCTGCGCAC -3'
(R):5'- GTTCCTCAGACAAGGCCAGGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation