Incidental Mutation 'R7767:Atp10a'
| ID |
598297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
045823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 58308597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Serine
at position 132
(W132S)
|
| 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: W132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: W132S
| 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: W132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,844,673 (GRCm39) |
E308G |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,281 (GRCm39) |
D142G |
probably benign |
Het |
| Atg13 |
A |
G |
2: 91,509,711 (GRCm39) |
S394P |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 36,974,436 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
A |
5: 41,974,099 (GRCm39) |
N2405I |
probably benign |
Het |
| Capsl |
C |
T |
15: 9,462,770 (GRCm39) |
R137C |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,617,441 (GRCm39) |
M1313K |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,566 (GRCm39) |
A132V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,362,117 (GRCm39) |
|
probably benign |
Het |
| Coq9 |
A |
T |
8: 95,577,214 (GRCm39) |
E193V |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,704,385 (GRCm39) |
I410F |
probably benign |
Het |
| Cyth3 |
T |
G |
5: 143,693,229 (GRCm39) |
V351G |
probably damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,256 (GRCm39) |
K607E |
|
Het |
| Dcp1a |
T |
C |
14: 30,201,775 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,394,079 (GRCm39) |
I35V |
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,587,973 (GRCm39) |
R606W |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,995,907 (GRCm39) |
L265P |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,291,134 (GRCm39) |
D847G |
probably damaging |
Het |
| Esyt3 |
T |
G |
9: 99,207,024 (GRCm39) |
S342R |
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,060,752 (GRCm39) |
I584K |
probably benign |
Het |
| Fam240a |
T |
C |
9: 110,744,090 (GRCm39) |
R50G |
probably damaging |
Het |
| Glis3 |
A |
T |
19: 28,241,360 (GRCm39) |
M858K |
probably benign |
Het |
| Gls2 |
C |
T |
10: 128,030,998 (GRCm39) |
R86C |
unknown |
Het |
| Gm10972 |
C |
A |
3: 94,550,901 (GRCm39) |
Y25* |
probably null |
Het |
| H2-T10 |
A |
T |
17: 36,428,622 (GRCm39) |
M350K |
probably benign |
Het |
| Has1 |
A |
T |
17: 18,070,792 (GRCm39) |
V43D |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,878,275 (GRCm39) |
S4609R |
probably benign |
Het |
| Hmgcs2 |
A |
C |
3: 98,198,582 (GRCm39) |
T162P |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,239,177 (GRCm39) |
C368F |
probably damaging |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,722 (GRCm39) |
S44P |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,473,545 (GRCm39) |
V1035A |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,730,295 (GRCm39) |
V3341I |
unknown |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrriq1 |
G |
C |
10: 103,051,815 (GRCm39) |
S312R |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,132,517 (GRCm39) |
S1111N |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,392,922 (GRCm39) |
V1029A |
|
Het |
| Nol11 |
T |
C |
11: 107,069,908 (GRCm39) |
H314R |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,162,733 (GRCm39) |
D404V |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,247,788 (GRCm39) |
V387A |
probably benign |
Het |
| Or51r1 |
A |
T |
7: 102,220,971 (GRCm39) |
|
probably benign |
Het |
| Pabpc2 |
T |
C |
18: 39,907,607 (GRCm39) |
Y291H |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,322,088 (GRCm39) |
A1020T |
probably benign |
Het |
| Pla2g4f |
A |
C |
2: 120,135,490 (GRCm39) |
S395A |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,176 (GRCm39) |
Q17R |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,215,996 (GRCm39) |
V155D |
probably damaging |
Het |
| Pwwp2a |
T |
G |
11: 43,596,696 (GRCm39) |
C620W |
probably damaging |
Het |
| Rabepk |
T |
C |
2: 34,675,605 (GRCm39) |
D175G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Rgma |
C |
A |
7: 73,067,752 (GRCm39) |
L446I |
unknown |
Het |
| Rnf212b |
T |
C |
14: 55,079,825 (GRCm39) |
S182P |
probably damaging |
Het |
| Rnf6 |
C |
A |
5: 146,147,986 (GRCm39) |
R344I |
probably damaging |
Het |
| Rnf6 |
T |
A |
5: 146,147,987 (GRCm39) |
R344* |
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,639 (GRCm39) |
I184T |
possibly damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,953,502 (GRCm39) |
I78N |
possibly damaging |
Het |
| Snx13 |
T |
A |
12: 35,157,483 (GRCm39) |
Y510N |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,171 (GRCm39) |
E638K |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,428,316 (GRCm39) |
T349A |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,126,223 (GRCm39) |
S343N |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,283,560 (GRCm39) |
V1502F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,283,632 (GRCm39) |
I1478F |
possibly damaging |
Het |
| Tmem121 |
C |
T |
12: 113,151,992 (GRCm39) |
A70V |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,042 (GRCm39) |
I40V |
possibly damaging |
Het |
| Trim25 |
A |
G |
11: 88,899,943 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,889,504 (GRCm39) |
V534A |
unknown |
Het |
| Tyr |
T |
A |
7: 87,142,218 (GRCm39) |
E114V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,285,457 (GRCm39) |
T1998S |
probably benign |
Het |
| Usp40 |
G |
T |
1: 87,909,900 (GRCm39) |
A518E |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,331,956 (GRCm39) |
|
probably null |
Het |
| Vash1 |
T |
A |
12: 86,733,767 (GRCm39) |
F152L |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,113,141 (GRCm39) |
P31Q |
probably damaging |
Het |
| Xab2 |
C |
T |
8: 3,669,018 (GRCm39) |
E43K |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,507,512 (GRCm39) |
S944F |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,736,392 (GRCm39) |
D350E |
probably benign |
Het |
| Zscan4e |
T |
G |
7: 11,041,461 (GRCm39) |
Q165P |
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 |
|
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 |
|
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 |
|
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'- AGTACACGCTGCTGTCCTTC -3'
(R):5'- ATGTGGATGAAACTAAACACGTGC -3'
Sequencing Primer
(F):5'- CTTGCCCAAGAATCTCTTCGAG -3'
(R):5'- CCCCTGCATCTTTGAGGATGAATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation