Incidental Mutation 'R1648:Atp10a'
ID |
174026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10a
|
Ensembl Gene |
ENSMUSG00000025324 |
Gene Name |
ATPase, class V, type 10A |
Synonyms |
pfatp, Atp10c |
MMRRC Submission |
039684-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R1648 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58434575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
AlphaFold |
O54827 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: V283A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129811 Gene: ENSMUSG00000025324 AA Change: V283A
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 |
0.5196 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
95% (73/77) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,181 (GRCm39) |
N1457D |
probably benign |
Het |
Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,789 (GRCm39) |
K2068* |
probably null |
Het |
Alms1 |
T |
C |
6: 85,655,384 (GRCm39) |
L3310P |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,303,278 (GRCm39) |
D219E |
probably benign |
Het |
Atp11a |
C |
T |
8: 12,897,495 (GRCm39) |
S270L |
probably damaging |
Het |
Casp3 |
T |
C |
8: 47,091,109 (GRCm39) |
S254P |
probably benign |
Het |
Cep104 |
G |
A |
4: 154,063,553 (GRCm39) |
|
probably null |
Het |
Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,943,844 (GRCm39) |
E348G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,631,793 (GRCm39) |
S488G |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,755,633 (GRCm39) |
H363Q |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,504 (GRCm39) |
I614V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,046,000 (GRCm39) |
T558I |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,860,615 (GRCm39) |
V397D |
possibly damaging |
Het |
Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
Gemin5 |
A |
T |
11: 58,038,805 (GRCm39) |
L568* |
probably null |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 137,997,206 (GRCm39) |
Y43C |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
Krt7 |
A |
C |
15: 101,310,448 (GRCm39) |
S32R |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,914,018 (GRCm39) |
|
probably null |
Het |
Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
Myo1h |
G |
T |
5: 114,474,336 (GRCm39) |
L458F |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,518,179 (GRCm39) |
Y528F |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,760,469 (GRCm39) |
C187S |
possibly damaging |
Het |
Nup160 |
T |
C |
2: 90,540,432 (GRCm39) |
Y854H |
probably damaging |
Het |
Odc1 |
T |
C |
12: 17,598,538 (GRCm39) |
|
probably benign |
Het |
Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
Plcxd3 |
A |
T |
15: 4,405,291 (GRCm39) |
I33F |
probably benign |
Het |
Postn |
A |
G |
3: 54,283,522 (GRCm39) |
T534A |
probably damaging |
Het |
Prkd2 |
T |
A |
7: 16,591,732 (GRCm39) |
F588I |
possibly damaging |
Het |
Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
Rinl |
C |
T |
7: 28,497,057 (GRCm39) |
A519V |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 91,979,517 (GRCm39) |
V975G |
probably damaging |
Het |
Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,112,975 (GRCm39) |
S16P |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 156,083,886 (GRCm39) |
A119T |
probably damaging |
Het |
Sgpp1 |
T |
A |
12: 75,762,990 (GRCm39) |
H397L |
possibly damaging |
Het |
Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
Smcp |
A |
T |
3: 92,491,788 (GRCm39) |
C20S |
unknown |
Het |
Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,120 (GRCm39) |
|
probably benign |
Het |
Tmem170b |
A |
T |
13: 41,759,738 (GRCm39) |
Q16L |
probably null |
Het |
Tmem30a |
A |
G |
9: 79,700,311 (GRCm39) |
F61S |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,081,534 (GRCm39) |
M232T |
probably damaging |
Het |
Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
Tusc3 |
C |
A |
8: 39,513,721 (GRCm39) |
S64* |
probably null |
Het |
Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
Zfp607a |
T |
C |
7: 27,578,493 (GRCm39) |
V521A |
probably benign |
Het |
Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
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 |
|
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'- GCTATGGAGTTACAACCAGACAGCC -3'
(R):5'- CACCAGAGGACATCGCAGTTCATC -3'
Sequencing Primer
(F):5'- TGTTCTTCCACAGCATGCAC -3'
(R):5'- GCCTACAGAGCAATTATGCTG -3'
|
Posted On |
2014-04-24 |