Incidental Mutation 'R9274:Atp10a'
| ID |
703162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R9274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58478369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1471
(Q1471K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168747
AA Change: Q1471K
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: Q1471K
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
A |
T |
2: 113,879,752 (GRCm39) |
S236T |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,267 (GRCm39) |
T239A |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,341 (GRCm39) |
F114L |
possibly damaging |
Het |
| Ascl2 |
G |
A |
7: 142,521,753 (GRCm39) |
R232C |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,720,346 (GRCm39) |
D461E |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,354 (GRCm39) |
Y983F |
probably damaging |
Het |
| C1rl |
A |
G |
6: 124,485,483 (GRCm39) |
S285G |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,254,354 (GRCm39) |
V772M |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,660,737 (GRCm39) |
D472V |
possibly damaging |
Het |
| Cd244a |
T |
G |
1: 171,401,928 (GRCm39) |
V218G |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,802,564 (GRCm39) |
K633R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,381,671 (GRCm39) |
Q1748R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
| Crnkl1 |
A |
T |
2: 145,765,836 (GRCm39) |
F411L |
probably damaging |
Het |
| Crp |
T |
A |
1: 172,526,072 (GRCm39) |
F52L |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,537,374 (GRCm39) |
N2208D |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,539,674 (GRCm39) |
|
probably null |
Het |
| F13a1 |
A |
T |
13: 37,052,761 (GRCm39) |
I726N |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,747,921 (GRCm39) |
T381I |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
| Gm12790 |
T |
A |
4: 101,824,743 (GRCm39) |
D175V |
possibly damaging |
Het |
| Gm3543 |
T |
C |
14: 41,802,125 (GRCm39) |
R120G |
probably damaging |
Het |
| Gpatch2 |
T |
A |
1: 186,963,029 (GRCm39) |
D273E |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,088,785 (GRCm39) |
S66P |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,506,046 (GRCm39) |
T3827A |
probably benign |
Het |
| Ism2 |
G |
A |
12: 87,331,827 (GRCm39) |
Q237* |
probably null |
Het |
| Jph2 |
G |
A |
2: 163,239,547 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,723 (GRCm39) |
Q865R |
probably benign |
Het |
| Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
| Kcnk9 |
A |
G |
15: 72,384,224 (GRCm39) |
V318A |
unknown |
Het |
| Lemd3 |
G |
A |
10: 120,814,717 (GRCm39) |
A172V |
possibly damaging |
Het |
| Lifr |
G |
T |
15: 7,217,591 (GRCm39) |
A840S |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,758,837 (GRCm39) |
T836A |
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
| Mdm2 |
G |
A |
10: 117,541,081 (GRCm39) |
|
probably benign |
Het |
| Msmb |
T |
C |
14: 31,870,130 (GRCm39) |
M34T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,479,265 (GRCm39) |
V334E |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,753,068 (GRCm39) |
I306T |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,640,056 (GRCm39) |
Y981H |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
| Nsa2 |
C |
T |
13: 97,272,170 (GRCm39) |
R17H |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,567,766 (GRCm39) |
H227R |
possibly damaging |
Het |
| Or10ak14 |
G |
A |
4: 118,610,883 (GRCm39) |
A286V |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4c1 |
A |
C |
2: 89,133,513 (GRCm39) |
L141R |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,709 (GRCm39) |
G202D |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,415,950 (GRCm39) |
W392R |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,471,136 (GRCm39) |
G969D |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,331,924 (GRCm39) |
T250A |
possibly damaging |
Het |
| Rad54l |
G |
T |
4: 115,967,667 (GRCm39) |
P205Q |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,278,539 (GRCm39) |
I334M |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,385,322 (GRCm39) |
Y557* |
probably null |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,334 (GRCm39) |
I446V |
probably benign |
Het |
| Serinc3 |
A |
T |
2: 163,468,371 (GRCm39) |
V361D |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,242,047 (GRCm39) |
V864L |
probably benign |
Het |
| Slf1 |
C |
A |
13: 77,191,669 (GRCm39) |
*1055L |
probably null |
Het |
| Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
| Stpg1 |
T |
C |
4: 135,252,782 (GRCm39) |
F178L |
possibly damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,336 (GRCm39) |
R345H |
probably benign |
Het |
| Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
| Tubg1 |
A |
G |
11: 101,017,241 (GRCm39) |
|
probably benign |
Het |
| Uchl3 |
A |
G |
14: 101,903,240 (GRCm39) |
D33G |
probably damaging |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,056 (GRCm39) |
H222L |
probably benign |
Het |
| Zfp975 |
C |
T |
7: 42,312,299 (GRCm39) |
V105I |
probably benign |
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 |
|
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 |
|
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'- AACCCAGTGCAGTGGATAC -3'
(R):5'- GGCCATTTCAAGGATTTCTTTGTCAC -3'
Sequencing Primer
(F):5'- CCATTAAGAGAGAACACCTTGCTGG -3'
(R):5'- CAAGGATTTCTTTGTCACCACATTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation