Incidental Mutation 'PIT4810001:Atp10a'
| ID |
556845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
PIT4810001 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58463596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1043
(I1043T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: I1043T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: I1043T
| 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: 93.8%
- 3x: 91.1%
- 10x: 85.1%
- 20x: 72.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,822 (GRCm39) |
S105P |
probably damaging |
Het |
| Adtrp |
C |
T |
13: 41,981,724 (GRCm39) |
W48* |
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,399,151 (GRCm39) |
M413L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,214 (GRCm39) |
D211V |
|
Het |
| Aplnr |
T |
A |
2: 84,967,628 (GRCm39) |
C218S |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,901,162 (GRCm39) |
E189V |
probably damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,133,382 (GRCm39) |
C468Y |
probably damaging |
Het |
| Cars2 |
A |
T |
8: 11,564,699 (GRCm39) |
C459S |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,645 (GRCm39) |
Y327N |
probably benign |
Het |
| Ceacam1 |
T |
A |
7: 25,171,400 (GRCm39) |
I355F |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,722,932 (GRCm39) |
L2773P |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,521 (GRCm39) |
H192L |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,444 (GRCm39) |
F121L |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,234 (GRCm39) |
S464N |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,735,135 (GRCm39) |
L990Q |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,706,516 (GRCm39) |
L2806Q |
unknown |
Het |
| Cpz |
T |
C |
5: 35,665,536 (GRCm39) |
E435G |
possibly damaging |
Het |
| Crbn |
T |
A |
6: 106,761,440 (GRCm39) |
R233* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,352 (GRCm39) |
T116I |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,574 (GRCm39) |
S314P |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,065,030 (GRCm39) |
E2625G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,796 (GRCm39) |
R1874* |
probably null |
Het |
| E130311K13Rik |
A |
T |
3: 63,823,122 (GRCm39) |
L174* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,414,363 (GRCm39) |
D86G |
probably benign |
Het |
| Fbxw18 |
C |
A |
9: 109,505,958 (GRCm39) |
E438* |
probably null |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Gpr155 |
A |
C |
2: 73,178,607 (GRCm39) |
L727R |
probably benign |
Het |
| Gpr158 |
C |
G |
2: 21,831,682 (GRCm39) |
D927E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,225,903 (GRCm39) |
Y2590C |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,348 (GRCm39) |
D207G |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,647,473 (GRCm39) |
L743P |
probably damaging |
Het |
| Kansl1l |
A |
T |
1: 66,801,308 (GRCm39) |
S553T |
probably damaging |
Het |
| Klhl14 |
G |
T |
18: 21,690,880 (GRCm39) |
Y523* |
probably null |
Het |
| Krtap14 |
A |
G |
16: 88,622,515 (GRCm39) |
S155P |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,273 (GRCm38) |
V111A |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,531,320 (GRCm39) |
N178S |
|
Het |
| Megf8 |
G |
A |
7: 25,041,710 (GRCm39) |
C1208Y |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,819,759 (GRCm39) |
D667G |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,860,158 (GRCm39) |
T1359A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,007,106 (GRCm39) |
E1357G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,766 (GRCm39) |
M278K |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,297 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,876 (GRCm39) |
F212I |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,487 (GRCm39) |
V447A |
possibly damaging |
Het |
| Pomp |
T |
C |
5: 147,806,229 (GRCm39) |
L57P |
probably benign |
Het |
| Pou2af2 |
C |
T |
9: 51,202,992 (GRCm39) |
G54D |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,861 (GRCm39) |
Y128F |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,228 (GRCm39) |
F322L |
probably benign |
Het |
| Slc16a9 |
T |
A |
10: 70,119,762 (GRCm39) |
C468* |
probably null |
Het |
| Slc22a18 |
A |
G |
7: 143,046,668 (GRCm39) |
I271V |
probably benign |
Het |
| Slc25a41 |
A |
G |
17: 57,346,933 (GRCm39) |
V20A |
possibly damaging |
Het |
| Smim7 |
A |
T |
8: 73,324,857 (GRCm39) |
L6Q |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,218,845 (GRCm39) |
V227A |
probably damaging |
Het |
| Sowaha |
A |
T |
11: 53,369,290 (GRCm39) |
L482Q |
probably damaging |
Het |
| Srp19 |
A |
G |
18: 34,467,523 (GRCm39) |
Y68C |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,884 (GRCm39) |
S298P |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,035,379 (GRCm39) |
I200N |
probably damaging |
Het |
| Togaram1 |
G |
A |
12: 65,030,286 (GRCm39) |
S1030N |
probably damaging |
Het |
| Trav7n-4 |
A |
G |
14: 53,329,193 (GRCm39) |
M68V |
probably benign |
Het |
| Tshz1 |
A |
C |
18: 84,031,375 (GRCm39) |
L1011R |
possibly damaging |
Het |
| Tubb3 |
A |
G |
8: 124,148,396 (GRCm39) |
E443G |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,932,396 (GRCm39) |
I189K |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,909 (GRCm39) |
T619A |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,761 (GRCm39) |
D254G |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,741,571 (GRCm39) |
F738L |
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 |
|
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 |
|
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'- CCAAGCCTTGTGATTGATGGAAG -3'
(R):5'- ACTACATGTGTCTGCTACCACC -3'
Sequencing Primer
(F):5'- TGGAAGAAGTCTGGCCTATGC -3'
(R):5'- ACATCTTGTGGCTCTTTGATCTATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation