Incidental Mutation 'R4661:Atp10a'
ID |
352851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10a
|
Ensembl Gene |
ENSMUSG00000025324 |
Gene Name |
ATPase, class V, type 10A |
Synonyms |
pfatp, Atp10c |
MMRRC Submission |
041600-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R4661 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TGGCGGCGGC to TGGCGGC
at 58308248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
[ENSMUST00000207668]
|
AlphaFold |
O54827 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168747
|
SMART Domains |
Protein: ENSMUSP00000129811 Gene: ENSMUSG00000025324
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 benign
Transcript: ENSMUST00000207668
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
C |
9: 44,198,627 (GRCm39) |
N42D |
probably damaging |
Het |
Adamdec1 |
G |
A |
14: 68,807,562 (GRCm39) |
T366I |
probably damaging |
Het |
Adamts7 |
C |
A |
9: 90,075,383 (GRCm39) |
H1038Q |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
Amhr2 |
A |
T |
15: 102,362,688 (GRCm39) |
D485V |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,298,663 (GRCm39) |
F134Y |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Atp9a |
A |
G |
2: 168,479,592 (GRCm39) |
F928L |
possibly damaging |
Het |
BC034090 |
A |
T |
1: 155,108,221 (GRCm39) |
D13E |
probably damaging |
Het |
Bco1 |
A |
G |
8: 117,855,980 (GRCm39) |
E425G |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
C1s1 |
T |
C |
6: 124,513,449 (GRCm39) |
I193V |
probably benign |
Het |
Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
Catsperz |
T |
G |
19: 6,902,171 (GRCm39) |
T108P |
probably benign |
Het |
Cep57l1 |
T |
A |
10: 41,595,767 (GRCm39) |
D329V |
possibly damaging |
Het |
Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
Chrna2 |
G |
A |
14: 66,386,292 (GRCm39) |
G146D |
probably damaging |
Het |
Col6a1 |
A |
C |
10: 76,550,506 (GRCm39) |
F520V |
unknown |
Het |
Cyb5d2 |
C |
A |
11: 72,669,771 (GRCm39) |
V43L |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,775,290 (GRCm39) |
T321A |
probably benign |
Het |
Dnajc16 |
A |
C |
4: 141,490,859 (GRCm39) |
Y764D |
probably damaging |
Het |
Dsg1a |
G |
A |
18: 20,473,590 (GRCm39) |
V888M |
probably damaging |
Het |
F5 |
A |
C |
1: 164,012,489 (GRCm39) |
T468P |
probably damaging |
Het |
Faap24 |
A |
G |
7: 35,094,509 (GRCm39) |
M97T |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,849,230 (GRCm39) |
I334N |
probably damaging |
Het |
Frem2 |
G |
T |
3: 53,562,864 (GRCm39) |
P548T |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,340,731 (GRCm39) |
E94G |
probably damaging |
Het |
Gm17606 |
A |
T |
14: 54,885,696 (GRCm39) |
|
probably benign |
Het |
Gnb2 |
A |
T |
5: 137,528,515 (GRCm39) |
M1K |
probably null |
Het |
Gys1 |
G |
A |
7: 45,104,258 (GRCm39) |
A544T |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,675 (GRCm39) |
Y230C |
probably damaging |
Het |
Hunk |
A |
T |
16: 90,244,196 (GRCm39) |
|
probably null |
Het |
Ifnl2 |
A |
G |
7: 28,209,635 (GRCm39) |
F51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,387,892 (GRCm39) |
|
probably null |
Het |
Kcnj1 |
A |
G |
9: 32,307,918 (GRCm39) |
Y114C |
probably benign |
Het |
Kdm4b |
T |
A |
17: 56,706,459 (GRCm39) |
S322T |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
Kif6 |
T |
C |
17: 50,060,909 (GRCm39) |
V414A |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,621,861 (GRCm39) |
K141R |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,490,581 (GRCm39) |
I1394V |
possibly damaging |
Het |
Lrfn5 |
A |
T |
12: 61,886,433 (GRCm39) |
M74L |
probably damaging |
Het |
Lrp6 |
C |
T |
6: 134,488,230 (GRCm39) |
D289N |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,548,710 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
C |
16: 32,589,651 (GRCm39) |
E2885A |
possibly damaging |
Het |
Myo18b |
G |
T |
5: 113,023,041 (GRCm39) |
|
probably benign |
Het |
Ncln |
G |
A |
10: 81,328,902 (GRCm39) |
A172V |
probably damaging |
Het |
Nek9 |
G |
A |
12: 85,367,666 (GRCm39) |
T335M |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,042,829 (GRCm39) |
Y1398C |
probably damaging |
Het |
Or10g6 |
A |
T |
9: 39,933,823 (GRCm39) |
I45F |
probably damaging |
Het |
Or2d4 |
T |
A |
7: 106,544,074 (GRCm39) |
I45F |
probably damaging |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
Pde6c |
A |
G |
19: 38,157,887 (GRCm39) |
Y637C |
probably damaging |
Het |
Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
Pold1 |
G |
T |
7: 44,182,233 (GRCm39) |
P1100T |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,977,387 (GRCm39) |
Y41H |
probably damaging |
Het |
Rgl2 |
C |
T |
17: 34,152,200 (GRCm39) |
A329V |
possibly damaging |
Het |
Rilp |
T |
A |
11: 75,402,250 (GRCm39) |
Y250N |
probably damaging |
Het |
Rilpl1 |
A |
G |
5: 124,652,751 (GRCm39) |
V19A |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,519 (GRCm39) |
|
probably null |
Het |
Rufy4 |
A |
G |
1: 74,172,266 (GRCm39) |
K246E |
probably damaging |
Het |
Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
Slc26a8 |
A |
T |
17: 28,857,658 (GRCm39) |
N828K |
probably benign |
Het |
Src |
C |
T |
2: 157,311,852 (GRCm39) |
P527S |
probably damaging |
Het |
Susd3 |
C |
T |
13: 49,384,778 (GRCm39) |
|
probably null |
Het |
Syngap1 |
T |
C |
17: 27,185,880 (GRCm39) |
L1270P |
probably damaging |
Het |
Taf1c |
G |
A |
8: 120,325,589 (GRCm39) |
P758S |
probably damaging |
Het |
Tenm2 |
A |
T |
11: 35,915,275 (GRCm39) |
N2087K |
probably damaging |
Het |
Tfrc |
A |
T |
16: 32,448,969 (GRCm39) |
I703F |
probably damaging |
Het |
Thap1 |
C |
G |
8: 26,650,874 (GRCm39) |
T48S |
probably benign |
Het |
Tspear |
T |
C |
10: 77,702,163 (GRCm39) |
F199L |
probably benign |
Het |
Usp17lc |
A |
T |
7: 103,067,797 (GRCm39) |
H364L |
probably benign |
Het |
Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
Vmn1r1 |
T |
C |
1: 181,984,789 (GRCm39) |
E292G |
possibly damaging |
Het |
Vmn1r125 |
T |
G |
7: 21,006,552 (GRCm39) |
V150G |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,117 (GRCm39) |
L300I |
probably damaging |
Het |
Vmn2r106 |
A |
C |
17: 20,487,885 (GRCm39) |
I838S |
probably benign |
Het |
Wdr64 |
A |
T |
1: 175,554,060 (GRCm39) |
S197C |
probably damaging |
Het |
Zfp248 |
A |
T |
6: 118,410,268 (GRCm39) |
V47E |
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 |
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'- GTAGACCTGGAAGTCTGGACAG -3'
(R):5'- GAAGGACAGCAGCGTGTACTTG -3'
Sequencing Primer
(F):5'- TGGAAGTCTGGACAGGCTGC -3'
(R):5'- AGCAGCGTGTACTTGGTGGTC -3'
|
Posted On |
2015-10-08 |