Incidental Mutation 'R7474:Atp10a'
| ID |
579338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
045548-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7474 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58308275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 25
(E25K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
[ENSMUST00000207668]
|
| AlphaFold |
O54827 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000168747
AA Change: E25K
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: E25K
| 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 |
unknown
Transcript: ENSMUST00000207668
AA Change: E25K
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,278,088 (GRCm39) |
C3089* |
probably null |
Het |
| Abcc1 |
A |
G |
16: 14,290,850 (GRCm39) |
T1487A |
possibly damaging |
Het |
| Agfg1 |
T |
A |
1: 82,860,132 (GRCm39) |
L333* |
probably null |
Het |
| Agfg2 |
C |
A |
5: 137,652,130 (GRCm39) |
V410F |
possibly damaging |
Het |
| Amotl2 |
T |
C |
9: 102,607,310 (GRCm39) |
V706A |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,185 (GRCm39) |
T2556S |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,755 (GRCm39) |
H174L |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,031,948 (GRCm39) |
L65P |
probably benign |
Het |
| Blvra |
T |
C |
2: 126,928,769 (GRCm39) |
F86L |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,189,398 (GRCm39) |
D53G |
probably benign |
Het |
| Cd300c2 |
T |
A |
11: 114,889,122 (GRCm39) |
E153V |
probably benign |
Het |
| Crxos |
A |
G |
7: 15,636,856 (GRCm39) |
E143G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,439,920 (GRCm39) |
N3125D |
|
Het |
| Cyp2c67 |
T |
A |
19: 39,605,876 (GRCm39) |
Q340L |
probably null |
Het |
| Dscam |
T |
A |
16: 96,621,089 (GRCm39) |
N540Y |
possibly damaging |
Het |
| E2f8 |
G |
A |
7: 48,525,508 (GRCm39) |
R155W |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 53,207,885 (GRCm39) |
V292D |
probably damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,090 (GRCm39) |
E364G |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fsd1 |
A |
T |
17: 56,295,149 (GRCm39) |
D46V |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,111,733 (GRCm39) |
L374H |
probably damaging |
Het |
| Gm10309 |
G |
A |
17: 86,812,095 (GRCm39) |
|
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,894,618 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
A |
T |
7: 39,057,404 (GRCm39) |
S738R |
probably benign |
Het |
| Gtf3c2 |
C |
A |
5: 31,325,100 (GRCm39) |
G502W |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,368,058 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
T |
C |
1: 140,498,216 (GRCm39) |
Y898H |
possibly damaging |
Het |
| Kctd19 |
C |
A |
8: 106,118,664 (GRCm39) |
R299L |
probably benign |
Het |
| Klf10 |
T |
C |
15: 38,297,446 (GRCm39) |
N198S |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,808,524 (GRCm39) |
D574V |
probably damaging |
Het |
| Lamc1 |
G |
A |
1: 153,208,011 (GRCm39) |
A92V |
possibly damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,363,643 (GRCm39) |
T163S |
possibly damaging |
Het |
| Mak |
T |
A |
13: 41,204,956 (GRCm39) |
K127N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,533,535 (GRCm39) |
Q945* |
probably null |
Het |
| Mthfr |
T |
A |
4: 148,137,059 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mtmr2 |
C |
A |
9: 13,710,521 (GRCm39) |
H357N |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,217,990 (GRCm39) |
E21V |
possibly damaging |
Het |
| Myh13 |
A |
C |
11: 67,258,537 (GRCm39) |
Q184P |
|
Het |
| Nans |
T |
A |
4: 46,502,484 (GRCm39) |
L307Q |
probably damaging |
Het |
| Ncan |
C |
A |
8: 70,554,691 (GRCm39) |
R1042L |
possibly damaging |
Het |
| Nrg3 |
T |
C |
14: 38,733,956 (GRCm39) |
E310G |
probably damaging |
Het |
| Obsl1 |
A |
C |
1: 75,474,828 (GRCm39) |
N857K |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,850,273 (GRCm39) |
V663A |
probably damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,277 (GRCm39) |
D83G |
probably benign |
Het |
| Or51v15-ps1 |
C |
A |
7: 103,278,354 (GRCm39) |
W271L |
unknown |
Het |
| Or52e19b |
A |
G |
7: 103,032,969 (GRCm39) |
I80T |
probably damaging |
Het |
| Or6d13 |
G |
T |
6: 116,517,999 (GRCm39) |
C195F |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,898 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,740,951 (GRCm39) |
M363V |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,269 (GRCm39) |
D234G |
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,406,552 (GRCm39) |
V157D |
possibly damaging |
Het |
| Pstk |
A |
G |
7: 130,975,362 (GRCm39) |
N105S |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,703,622 (GRCm39) |
|
probably null |
Het |
| Rnf2 |
T |
A |
1: 151,347,467 (GRCm39) |
E277D |
probably benign |
Het |
| Rnpepl1 |
T |
C |
1: 92,846,694 (GRCm39) |
F532S |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,355,164 (GRCm39) |
A261T |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,762 (GRCm39) |
S4355P |
probably benign |
Het |
| Sacs |
T |
G |
14: 61,448,627 (GRCm39) |
L3558V |
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,610 (GRCm39) |
V1047A |
probably damaging |
Het |
| Slco2b1 |
A |
T |
7: 99,314,039 (GRCm39) |
C515S |
probably damaging |
Het |
| Smgc |
T |
A |
15: 91,744,892 (GRCm39) |
V732E |
possibly damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,141,550 (GRCm39) |
M1105V |
possibly damaging |
Het |
| Spats1 |
A |
G |
17: 45,768,087 (GRCm39) |
Y160H |
possibly damaging |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,848 (GRCm39) |
D128V |
|
Het |
| Tns3 |
T |
C |
11: 8,480,894 (GRCm39) |
Q234R |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,796,184 (GRCm39) |
V306A |
possibly damaging |
Het |
| Vac14 |
T |
A |
8: 111,363,066 (GRCm39) |
V304D |
probably damaging |
Het |
| Vangl1 |
A |
G |
3: 102,091,565 (GRCm39) |
F174L |
probably benign |
Het |
| Vav1 |
A |
G |
17: 57,606,102 (GRCm39) |
E242G |
probably benign |
Het |
| Vsir |
A |
G |
10: 60,204,701 (GRCm39) |
N305D |
probably benign |
Het |
| Vwce |
T |
A |
19: 10,624,305 (GRCm39) |
C399S |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,819,209 (GRCm39) |
L248M |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,678 (GRCm39) |
K265* |
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,602,002 (GRCm39) |
K315N |
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 |
|
|
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 |
|
|
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'- CTAGTAGACCTGGAAGTCTGGACAG -3'
(R):5'- TCTTGGGCAAGAAGGACAGC -3'
Sequencing Primer
(F):5'- TGGAAGTCTGGACAGGCTGC -3'
(R):5'- ACAGCAGCGTGTACTTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation