Incidental Mutation 'R7861:Atp10a'
| ID |
607514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
Atp10c, pfatp |
| MMRRC Submission |
045914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58656166-58829420 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58788359 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 430
(S430P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: S430P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: S430P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,649,494 (GRCm38) |
I50F |
possibly damaging |
Het |
| Abcc3 |
T |
C |
11: 94,357,249 (GRCm38) |
D1175G |
probably null |
Het |
| Accs |
C |
A |
2: 93,835,732 (GRCm38) |
*503L |
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,114,457 (GRCm38) |
E520G |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,548,453 (GRCm38) |
C215F |
probably benign |
Het |
| Apbb1ip |
A |
C |
2: 22,816,978 (GRCm38) |
D9A |
unknown |
Het |
| Atad2 |
G |
A |
15: 58,125,780 (GRCm38) |
A228V |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 25,001,148 (GRCm38) |
D6G |
unknown |
Het |
| Brca1 |
A |
T |
11: 101,526,422 (GRCm38) |
N295K |
possibly damaging |
Het |
| Caly |
C |
A |
7: 140,081,388 (GRCm38) |
|
probably benign |
Het |
| Ces1h |
A |
G |
8: 93,357,425 (GRCm38) |
Y386H |
unknown |
Het |
| Col14a1 |
A |
G |
15: 55,444,616 (GRCm38) |
D1044G |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,349,157 (GRCm38) |
D888G |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,252,604 (GRCm38) |
E568G |
possibly damaging |
Het |
| Cyhr1 |
C |
T |
15: 76,648,186 (GRCm38) |
D241N |
probably benign |
Het |
| Dhrs7b |
T |
A |
11: 60,855,742 (GRCm38) |
L219Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,245,212 (GRCm38) |
P80L |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,616,759 (GRCm38) |
P545S |
probably damaging |
Het |
| Dnajc24 |
A |
T |
2: 106,002,035 (GRCm38) |
M1K |
probably null |
Het |
| Dusp12 |
C |
T |
1: 170,874,526 (GRCm38) |
W301* |
probably null |
Het |
| Dyrk1a |
G |
T |
16: 94,691,716 (GRCm38) |
G603* |
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,679,702 (GRCm38) |
V403E |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,496,274 (GRCm38) |
E90G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,805,910 (GRCm38) |
S1303G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,228,069 (GRCm38) |
Y627N |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,664,557 (GRCm38) |
L22* |
probably null |
Het |
| Fcamr |
T |
A |
1: 130,814,638 (GRCm38) |
N587K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 94,103,331 (GRCm38) |
N946S |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,468,999 (GRCm38) |
I477N |
possibly damaging |
Het |
| Grifin |
C |
T |
5: 140,564,525 (GRCm38) |
A54T |
probably benign |
Het |
| Gtf2b |
A |
G |
3: 142,781,344 (GRCm38) |
I180M |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,559 (GRCm38) |
D378V |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,628,444 (GRCm38) |
E378G |
probably damaging |
Het |
| Khdc1a |
T |
C |
1: 21,350,399 (GRCm38) |
I81T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,939,922 (GRCm38) |
D617E |
probably damaging |
Het |
| Kifc3 |
T |
A |
8: 95,107,537 (GRCm38) |
|
probably null |
Het |
| Kirrel3 |
C |
T |
9: 35,020,123 (GRCm38) |
H403Y |
possibly damaging |
Het |
| Klf15 |
G |
A |
6: 90,466,838 (GRCm38) |
V132I |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,818,734 (GRCm38) |
S3429P |
unknown |
Het |
| Lama1 |
T |
G |
17: 67,809,221 (GRCm38) |
L2361R |
|
Het |
| Lrp1b |
T |
C |
2: 40,697,558 (GRCm38) |
D3895G |
|
Het |
| Mcoln3 |
A |
C |
3: 146,124,791 (GRCm38) |
E92A |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,108,688 (GRCm38) |
M135T |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,946,967 (GRCm38) |
*820Q |
probably null |
Het |
| Ncoa7 |
A |
G |
10: 30,691,060 (GRCm38) |
S541P |
probably benign |
Het |
| Nup54 |
T |
C |
5: 92,431,093 (GRCm38) |
T33A |
unknown |
Het |
| Olfr118 |
C |
A |
17: 37,672,517 (GRCm38) |
Q165K |
possibly damaging |
Het |
| Olfr1290 |
T |
A |
2: 111,490,024 (GRCm38) |
I45F |
probably damaging |
Het |
| Olfr1496 |
T |
C |
19: 13,781,446 (GRCm38) |
V276A |
possibly damaging |
Het |
| Olfr45 |
T |
G |
7: 140,691,571 (GRCm38) |
I222S |
probably damaging |
Het |
| Olfr586 |
T |
A |
7: 103,122,692 (GRCm38) |
I27F |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,826,414 (GRCm38) |
C18R |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,935,324 (GRCm38) |
E284G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm38) |
|
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,440,142 (GRCm38) |
W598L |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,544 (GRCm38) |
C49S |
probably damaging |
Het |
| Pramef6 |
T |
C |
4: 143,897,718 (GRCm38) |
M70V |
possibly damaging |
Het |
| Prdx1 |
T |
G |
4: 116,693,738 (GRCm38) |
D135E |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,803,129 (GRCm38) |
Y88F |
probably damaging |
Het |
| Rem2 |
C |
A |
14: 54,477,799 (GRCm38) |
H144Q |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,144,064 (GRCm38) |
D737G |
probably damaging |
Het |
| Srd5a3 |
C |
T |
5: 76,147,819 (GRCm38) |
Q119* |
probably null |
Het |
| Suclg2 |
G |
T |
6: 95,594,722 (GRCm38) |
Q120K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,625,431 (GRCm38) |
M1282K |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 50,756,692 (GRCm38) |
Q620L |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,472,154 (GRCm38) |
A91S |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,159,698 (GRCm38) |
F1184Y |
probably benign |
Het |
| Trim28 |
T |
A |
7: 13,028,412 (GRCm38) |
V321E |
possibly damaging |
Het |
| Trim5 |
C |
A |
7: 104,266,468 (GRCm38) |
|
probably null |
Het |
| Ugt2b37 |
A |
T |
5: 87,242,440 (GRCm38) |
Y382* |
probably null |
Het |
| Usp40 |
C |
T |
1: 87,982,130 (GRCm38) |
G534D |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,934,463 (GRCm38) |
H823Q |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,087,963 (GRCm38) |
M508L |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,715,424 (GRCm38) |
I296F |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,655,304 (GRCm38) |
S2563G |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 111,494,280 (GRCm38) |
F207L |
|
Het |
| Zan |
A |
G |
5: 137,407,033 (GRCm38) |
S3777P |
unknown |
Het |
| Zfp277 |
T |
C |
12: 40,315,881 (GRCm38) |
N530D |
possibly damaging |
Het |
| Zfp365 |
G |
A |
10: 67,909,919 (GRCm38) |
R10W |
probably damaging |
Het |
| Zfp384 |
A |
T |
6: 125,036,325 (GRCm38) |
H452L |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,217,143 (GRCm38) |
L509Q |
probably damaging |
Het |
|
| Other mutations in Atp10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Atp10a
|
APN |
7 |
58,794,482 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL00973:Atp10a
|
APN |
7 |
58,807,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00984:Atp10a
|
APN |
7 |
58,658,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01086:Atp10a
|
APN |
7 |
58,824,318 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01296:Atp10a
|
APN |
7 |
58,813,625 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01731:Atp10a
|
APN |
7 |
58,797,562 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02081:Atp10a
|
APN |
7 |
58,827,856 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02095:Atp10a
|
APN |
7 |
58,807,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02549:Atp10a
|
APN |
7 |
58,819,733 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02558:Atp10a
|
APN |
7 |
58,819,642 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02659:Atp10a
|
APN |
7 |
58,813,631 (GRCm38) |
missense |
probably benign |
|
|
IGL02986:Atp10a
|
APN |
7 |
58,828,721 (GRCm38) |
missense |
probably benign |
|
|
IGL03218:Atp10a
|
APN |
7 |
58,788,448 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT4260001:Atp10a
|
UTSW |
7 |
58,791,118 (GRCm38) |
nonsense |
probably null |
|
|
PIT4445001:Atp10a
|
UTSW |
7 |
58,803,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
PIT4810001:Atp10a
|
UTSW |
7 |
58,813,848 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0091:Atp10a
|
UTSW |
7 |
58,774,046 (GRCm38) |
splice site |
probably benign |
|
|
R0349:Atp10a
|
UTSW |
7 |
58,803,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0426:Atp10a
|
UTSW |
7 |
58,784,734 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0609:Atp10a
|
UTSW |
7 |
58,819,740 (GRCm38) |
splice site |
probably null |
|
|
R0722:Atp10a
|
UTSW |
7 |
58,816,183 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0741:Atp10a
|
UTSW |
7 |
58,828,589 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1172:Atp10a
|
UTSW |
7 |
58,803,766 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1342:Atp10a
|
UTSW |
7 |
58,816,146 (GRCm38) |
splice site |
probably benign |
|
|
R1648:Atp10a
|
UTSW |
7 |
58,784,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1715:Atp10a
|
UTSW |
7 |
58,786,505 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1737:Atp10a
|
UTSW |
7 |
58,827,238 (GRCm38) |
splice site |
probably benign |
|
|
R1799:Atp10a
|
UTSW |
7 |
58,824,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Atp10a
|
UTSW |
7 |
58,828,712 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1918:Atp10a
|
UTSW |
7 |
58,827,935 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2031:Atp10a
|
UTSW |
7 |
58,827,930 (GRCm38) |
nonsense |
probably null |
|
|
R2080:Atp10a
|
UTSW |
7 |
58,824,327 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2424:Atp10a
|
UTSW |
7 |
58,794,555 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2696:Atp10a
|
UTSW |
7 |
58,813,618 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3932:Atp10a
|
UTSW |
7 |
58,827,104 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4198:Atp10a
|
UTSW |
7 |
58,813,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4453:Atp10a
|
UTSW |
7 |
58,658,500 (GRCm38) |
small deletion |
probably benign |
|
|
R4632:Atp10a
|
UTSW |
7 |
58,807,438 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4661:Atp10a
|
UTSW |
7 |
58,658,500 (GRCm38) |
small deletion |
probably benign |
|
|
R4782:Atp10a
|
UTSW |
7 |
58,791,095 (GRCm38) |
missense |
probably benign |
|
|
R4888:Atp10a
|
UTSW |
7 |
58,785,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4935:Atp10a
|
UTSW |
7 |
58,813,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5051:Atp10a
|
UTSW |
7 |
58,740,246 (GRCm38) |
frame shift |
probably null |
|
|
R5213:Atp10a
|
UTSW |
7 |
58,773,983 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5617:Atp10a
|
UTSW |
7 |
58,803,675 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5834:Atp10a
|
UTSW |
7 |
58,658,618 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5885:Atp10a
|
UTSW |
7 |
58,813,800 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6013:Atp10a
|
UTSW |
7 |
58,797,790 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6136:Atp10a
|
UTSW |
7 |
58,828,340 (GRCm38) |
missense |
probably benign |
|
|
R6269:Atp10a
|
UTSW |
7 |
58,803,739 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6380:Atp10a
|
UTSW |
7 |
58,819,684 (GRCm38) |
nonsense |
probably null |
|
|
R6743:Atp10a
|
UTSW |
7 |
58,797,814 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6875:Atp10a
|
UTSW |
7 |
58,797,352 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6975:Atp10a
|
UTSW |
7 |
58,773,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7082:Atp10a
|
UTSW |
7 |
58,658,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7203:Atp10a
|
UTSW |
7 |
58,786,473 (GRCm38) |
missense |
probably benign |
|
|
R7224:Atp10a
|
UTSW |
7 |
58,797,471 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7287:Atp10a
|
UTSW |
7 |
58,827,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7437:Atp10a
|
UTSW |
7 |
58,658,540 (GRCm38) |
missense |
unknown |
|
|
R7474:Atp10a
|
UTSW |
7 |
58,658,527 (GRCm38) |
missense |
unknown |
|
|
R7530:Atp10a
|
UTSW |
7 |
58,773,976 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7561:Atp10a
|
UTSW |
7 |
58,827,133 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7743:Atp10a
|
UTSW |
7 |
58,803,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7767:Atp10a
|
UTSW |
7 |
58,658,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7903:Atp10a
|
UTSW |
7 |
58,658,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8015:Atp10a
|
UTSW |
7 |
58,803,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8166:Atp10a
|
UTSW |
7 |
58,807,522 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8201:Atp10a
|
UTSW |
7 |
58,819,676 (GRCm38) |
nonsense |
probably null |
|
|
R8465:Atp10a
|
UTSW |
7 |
58,828,310 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8858:Atp10a
|
UTSW |
7 |
58,816,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8985:Atp10a
|
UTSW |
7 |
58,788,344 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9003:Atp10a
|
UTSW |
7 |
58,807,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9274:Atp10a
|
UTSW |
7 |
58,828,621 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9385:Atp10a
|
UTSW |
7 |
58,828,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9432:Atp10a
|
UTSW |
7 |
58,819,670 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9454:Atp10a
|
UTSW |
7 |
58,658,591 (GRCm38) |
missense |
probably benign |
|
|
R9596:Atp10a
|
UTSW |
7 |
58,827,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9736:Atp10a
|
UTSW |
7 |
58,824,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Atp10a
|
UTSW |
7 |
58,788,447 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGAGAACTGCTCCCTGG -3'
(R):5'- AACCTTGTGGACTGTCTCCTG -3'
Sequencing Primer
(F):5'- GAACTGCTCCCTGGTGCTCATAG -3'
(R):5'- TGCCCATGCACAATTTGGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation