Incidental Mutation 'R7082:Atp10a'
ID |
549601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10a
|
Ensembl Gene |
ENSMUSG00000025324 |
Gene Name |
ATPase, class V, type 10A |
Synonyms |
pfatp, Atp10c |
MMRRC Submission |
045176-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R7082 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58308567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 122
(I122T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
[ENSMUST00000207668]
|
AlphaFold |
O54827 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: I122T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129811 Gene: ENSMUSG00000025324 AA Change: I122T
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207668
AA Change: I122T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (88/88) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
A |
T |
6: 52,156,260 (GRCm39) |
N109Y |
unknown |
Het |
A430005L14Rik |
C |
T |
4: 154,044,221 (GRCm39) |
R11W |
probably damaging |
Het |
Aadacl2 |
T |
A |
3: 59,932,306 (GRCm39) |
S274T |
probably damaging |
Het |
Ahctf1 |
T |
C |
1: 179,602,898 (GRCm39) |
R887G |
probably benign |
Het |
Aox4 |
G |
T |
1: 58,263,352 (GRCm39) |
R158L |
possibly damaging |
Het |
Batf2 |
G |
T |
19: 6,221,405 (GRCm39) |
A72S |
possibly damaging |
Het |
Bltp3a |
G |
T |
17: 28,109,039 (GRCm39) |
R1086L |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,977,573 (GRCm39) |
D749G |
probably benign |
Het |
Cacybp |
A |
G |
1: 160,031,229 (GRCm39) |
Y200H |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,743,869 (GRCm39) |
V76D |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,944 (GRCm39) |
D149G |
probably benign |
Het |
Chtop |
A |
G |
3: 90,414,891 (GRCm39) |
V9A |
probably benign |
Het |
Cnot9 |
A |
G |
1: 74,566,165 (GRCm39) |
I185M |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,808,438 (GRCm39) |
I870T |
unknown |
Het |
Cr1l |
A |
G |
1: 194,806,006 (GRCm39) |
I159T |
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,940,495 (GRCm39) |
S33P |
probably benign |
Het |
Dlg2 |
T |
A |
7: 90,381,192 (GRCm39) |
W44R |
probably benign |
Het |
Dlgap4 |
T |
C |
2: 156,590,342 (GRCm39) |
|
probably null |
Het |
Dna2 |
A |
G |
10: 62,790,096 (GRCm39) |
H193R |
possibly damaging |
Het |
Espnl |
T |
A |
1: 91,262,521 (GRCm39) |
F322Y |
probably benign |
Het |
Fam171a1 |
G |
A |
2: 3,224,512 (GRCm39) |
V293I |
probably benign |
Het |
Fam76b |
A |
G |
9: 13,744,308 (GRCm39) |
Y135C |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,793,728 (GRCm39) |
I35F |
probably benign |
Het |
Gm9195 |
T |
A |
14: 72,680,152 (GRCm39) |
Q2219L |
probably benign |
Het |
Gnptg |
T |
C |
17: 25,453,694 (GRCm39) |
T283A |
probably benign |
Het |
Grap2 |
G |
A |
15: 80,532,699 (GRCm39) |
V289M |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,710 (GRCm39) |
T767A |
probably benign |
Het |
Hs3st5 |
A |
G |
10: 36,708,833 (GRCm39) |
I123V |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,566 (GRCm39) |
T781A |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,623,102 (GRCm39) |
H398Q |
probably damaging |
Het |
Kcnk1 |
A |
G |
8: 126,722,287 (GRCm39) |
Y30C |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,801,633 (GRCm39) |
T41A |
probably benign |
Het |
Krt14 |
G |
A |
11: 100,094,167 (GRCm39) |
H476Y |
possibly damaging |
Het |
Lingo3 |
G |
C |
10: 80,671,625 (GRCm39) |
R102G |
probably benign |
Het |
Map3k9 |
G |
A |
12: 81,771,476 (GRCm39) |
T704M |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,762,341 (GRCm39) |
N5088K |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,790,812 (GRCm39) |
S67T |
probably benign |
Het |
Mrps18c |
A |
G |
5: 100,952,270 (GRCm39) |
E143G |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,932,093 (GRCm39) |
S698T |
unknown |
Het |
Nags |
C |
A |
11: 102,038,298 (GRCm39) |
R335S |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,637,425 (GRCm39) |
V385A |
possibly damaging |
Het |
Nipal2 |
A |
C |
15: 34,584,809 (GRCm39) |
V253G |
possibly damaging |
Het |
Nos2 |
C |
A |
11: 78,819,405 (GRCm39) |
T39K |
probably benign |
Het |
Or10p1 |
T |
A |
10: 129,443,416 (GRCm39) |
*311Y |
probably null |
Het |
Or10p1 |
T |
A |
10: 129,443,417 (GRCm39) |
*311L |
probably null |
Het |
Or51t4 |
T |
C |
7: 102,598,455 (GRCm39) |
V261A |
probably damaging |
Het |
Or52s19 |
C |
A |
7: 103,007,495 (GRCm39) |
R302L |
possibly damaging |
Het |
Or6c66 |
C |
T |
10: 129,461,634 (GRCm39) |
V99M |
probably benign |
Het |
Or9s15 |
G |
A |
1: 92,524,140 (GRCm39) |
|
probably benign |
Het |
Panx3 |
G |
A |
9: 37,577,913 (GRCm39) |
P106S |
probably benign |
Het |
Pappa2 |
G |
A |
1: 158,590,689 (GRCm39) |
T1655I |
possibly damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,400,044 (GRCm39) |
D665G |
probably damaging |
Het |
Pde2a |
T |
C |
7: 101,157,303 (GRCm39) |
L676P |
probably damaging |
Het |
Pf4 |
A |
G |
5: 90,920,851 (GRCm39) |
T60A |
possibly damaging |
Het |
Pira12 |
C |
T |
7: 3,898,510 (GRCm39) |
V313M |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,917,442 (GRCm39) |
C164S |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,356,800 (GRCm39) |
M640K |
probably benign |
Het |
Ptf1a |
A |
G |
2: 19,450,676 (GRCm39) |
D2G |
possibly damaging |
Het |
Ptprq |
C |
T |
10: 107,544,591 (GRCm39) |
C313Y |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,500,578 (GRCm39) |
S467P |
probably damaging |
Het |
Rap1gap |
C |
T |
4: 137,446,247 (GRCm39) |
T333M |
probably damaging |
Het |
Rfpl4 |
A |
G |
7: 5,118,558 (GRCm39) |
L4P |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,124,050 (GRCm39) |
N611S |
probably benign |
Het |
Sacs |
C |
A |
14: 61,447,966 (GRCm39) |
N3337K |
possibly damaging |
Het |
Sbno2 |
A |
T |
10: 79,895,924 (GRCm39) |
|
probably null |
Het |
Scrn2 |
T |
A |
11: 96,923,908 (GRCm39) |
V264E |
possibly damaging |
Het |
Serpinb9c |
T |
A |
13: 33,338,390 (GRCm39) |
I198L |
probably benign |
Het |
Shank2 |
T |
C |
7: 143,964,096 (GRCm39) |
F568S |
probably damaging |
Het |
Slc47a1 |
C |
T |
11: 61,268,767 (GRCm39) |
R36Q |
probably benign |
Het |
Slc4a8 |
A |
C |
15: 100,688,908 (GRCm39) |
E406A |
probably damaging |
Het |
Speg |
C |
T |
1: 75,388,091 (GRCm39) |
T1483I |
probably damaging |
Het |
Srbd1 |
A |
G |
17: 86,365,160 (GRCm39) |
V632A |
probably damaging |
Het |
Srd5a2 |
A |
T |
17: 74,328,515 (GRCm39) |
Y188N |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,455,543 (GRCm39) |
|
probably null |
Het |
Ssx2ip |
A |
T |
3: 146,136,703 (GRCm39) |
D317V |
probably benign |
Het |
Tmco3 |
G |
T |
8: 13,370,847 (GRCm39) |
E172* |
probably null |
Het |
Trpc4 |
G |
A |
3: 54,206,519 (GRCm39) |
W573* |
probably null |
Het |
Ttn |
T |
C |
2: 76,580,340 (GRCm39) |
I23518V |
probably benign |
Het |
Tubal3 |
A |
G |
13: 3,983,050 (GRCm39) |
T277A |
possibly damaging |
Het |
Unc5b |
A |
T |
10: 60,610,867 (GRCm39) |
L391H |
probably damaging |
Het |
Vmn2r76 |
A |
G |
7: 85,874,440 (GRCm39) |
F846L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,790,735 (GRCm39) |
Y338N |
probably damaging |
Het |
Zc3hav1 |
G |
T |
6: 38,309,328 (GRCm39) |
S498* |
probably null |
Het |
Zfand4 |
T |
A |
6: 116,305,337 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,811,972 (GRCm39) |
|
probably null |
Het |
Zfp607a |
A |
T |
7: 27,578,183 (GRCm39) |
I418F |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,816,337 (GRCm39) |
T515A |
probably damaging |
Het |
Zfp708 |
G |
T |
13: 67,219,200 (GRCm39) |
L208I |
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 |
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 |
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'- ATGATCACCTAGGAGGCTGG -3'
(R):5'- TGAGGATGAATGATTTTCACCTGG -3'
Sequencing Primer
(F):5'- GAAGAGTCCGCATCCTCG -3'
(R):5'- GATGAATGATTTTCACCTGGCCCAG -3'
|
Posted On |
2019-05-15 |