Incidental Mutation 'R5213:Atp10a'
| ID |
403268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
042854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58423731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 232
(T232I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: T232I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: T232I
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,303,865 (GRCm39) |
H1342N |
possibly damaging |
Het |
| Adcy2 |
G |
T |
13: 68,768,942 (GRCm39) |
T1062K |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,943,808 (GRCm39) |
N1110S |
probably damaging |
Het |
| Atp5pb |
T |
A |
3: 105,863,227 (GRCm39) |
K70* |
probably null |
Het |
| Atp8b4 |
A |
C |
2: 126,231,329 (GRCm39) |
|
probably null |
Het |
| Atraid |
A |
C |
5: 31,209,552 (GRCm39) |
Q72P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,543 (GRCm39) |
|
probably null |
Het |
| Best3 |
A |
T |
10: 116,860,377 (GRCm39) |
T546S |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,353,960 (GRCm39) |
K51E |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 86,034,147 (GRCm39) |
S525P |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,387,177 (GRCm39) |
I1701T |
probably benign |
Het |
| Chrna9 |
A |
T |
5: 66,128,427 (GRCm39) |
K208* |
probably null |
Het |
| Clec2l |
T |
A |
6: 38,657,127 (GRCm39) |
C197S |
probably damaging |
Het |
| Crp |
A |
G |
1: 172,526,086 (GRCm39) |
H57R |
probably benign |
Het |
| Cyp27b1 |
C |
A |
10: 126,887,964 (GRCm39) |
T492N |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,726,741 (GRCm39) |
I340F |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,528,987 (GRCm39) |
D241V |
probably damaging |
Het |
| Epg5 |
G |
T |
18: 78,058,049 (GRCm39) |
V1865L |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,819,614 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,144,658 (GRCm39) |
C4072Y |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,340 (GRCm39) |
I2664N |
possibly damaging |
Het |
| Gabrp |
A |
G |
11: 33,517,211 (GRCm39) |
|
probably null |
Het |
| Glis2 |
G |
T |
16: 4,431,946 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
G |
14: 43,816,559 (GRCm39) |
S15P |
probably damaging |
Het |
| Gm21836 |
A |
G |
9: 124,252,736 (GRCm39) |
V14A |
unknown |
Het |
| Gon7 |
G |
A |
12: 102,720,380 (GRCm39) |
T84I |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,764,791 (GRCm39) |
Y447* |
probably null |
Het |
| Grip2 |
A |
T |
6: 91,756,812 (GRCm39) |
D546E |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,849,316 (GRCm39) |
|
probably null |
Het |
| Il36a |
T |
A |
2: 24,114,486 (GRCm39) |
F120L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,150,920 (GRCm39) |
V842A |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,331,366 (GRCm39) |
A404V |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,669 (GRCm39) |
V132A |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,710,646 (GRCm39) |
F262C |
probably benign |
Het |
| Msantd5f6 |
G |
T |
4: 73,319,571 (GRCm39) |
Q302K |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,836,614 (GRCm39) |
V732E |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,673 (GRCm39) |
|
probably null |
Het |
| Or10d5 |
A |
C |
9: 39,861,389 (GRCm39) |
I226S |
probably damaging |
Het |
| Or12d12 |
T |
C |
17: 37,610,942 (GRCm39) |
I124V |
probably damaging |
Het |
| Or5k1b |
T |
C |
16: 58,580,984 (GRCm39) |
Y185C |
probably damaging |
Het |
| Oxgr1 |
G |
T |
14: 120,259,552 (GRCm39) |
Y218* |
probably null |
Het |
| Paf1 |
A |
G |
7: 28,095,397 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,997,878 (GRCm39) |
K316* |
probably null |
Het |
| Plac8 |
T |
A |
5: 100,704,371 (GRCm39) |
M109L |
probably benign |
Het |
| Plagl2 |
A |
T |
2: 153,074,239 (GRCm39) |
C221S |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,103,846 (GRCm39) |
D870G |
probably damaging |
Het |
| Polr2k |
T |
A |
15: 36,175,143 (GRCm39) |
M1K |
probably null |
Het |
| Prdm9 |
T |
C |
17: 15,775,416 (GRCm39) |
H276R |
probably damaging |
Het |
| Resf1 |
C |
A |
6: 149,227,551 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,914 (GRCm39) |
I184V |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,417,481 (GRCm39) |
E26G |
possibly damaging |
Het |
| Skil |
T |
C |
3: 31,171,600 (GRCm39) |
S575P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,108,158 (GRCm39) |
L306P |
probably damaging |
Het |
| Slc20a1 |
G |
T |
2: 129,042,429 (GRCm39) |
W166L |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snrnp200 |
G |
T |
2: 127,073,661 (GRCm39) |
G1353V |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,940,964 (GRCm39) |
V50E |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,258,224 (GRCm39) |
I173T |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,743,061 (GRCm39) |
F1183I |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,707 (GRCm39) |
D1988G |
probably damaging |
Het |
| Tank |
T |
A |
2: 61,480,292 (GRCm39) |
I276N |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,401 (GRCm39) |
W652R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,984,980 (GRCm39) |
T42I |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,997,039 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
G |
1: 73,992,771 (GRCm39) |
S9P |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,863 (GRCm39) |
S32P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,674,818 (GRCm39) |
Y72* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,432,285 (GRCm39) |
P894S |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,129,877 (GRCm39) |
R666* |
probably null |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,845 (GRCm39) |
L86* |
probably null |
Het |
| Usp32 |
T |
A |
11: 84,913,085 (GRCm39) |
N941I |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,512,504 (GRCm39) |
V2322M |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,136 (GRCm39) |
Y294F |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,755 (GRCm39) |
N256S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,888,197 (GRCm39) |
S557P |
probably damaging |
Het |
| Xrra1 |
C |
A |
7: 99,547,690 (GRCm39) |
P293Q |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,388 (GRCm39) |
D79G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,668 (GRCm39) |
Y347N |
probably damaging |
Het |
| Zfp740 |
T |
C |
15: 102,121,082 (GRCm39) |
C169R |
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 |
|
|
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'- CTCACTATCCACAAGTCTGTTCATAG -3'
(R):5'- TTGACAAGCTCCCACTGCTG -3'
Sequencing Primer
(F):5'- TCCACAAGTCTGTTCATAGTTAAAAC -3'
(R):5'- GTCAACCAAAAATGATGTATGTGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation