Incidental Mutation 'PIT4445001:Atp10a'
ID |
555408 |
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 # |
PIT4445001 (G1)
|
Quality Score |
170.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58453215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 798
(D798G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
AlphaFold |
O54827 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168747
AA Change: D798G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129811 Gene: ENSMUSG00000025324 AA Change: D798G
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: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,966,377 (GRCm39) |
K419E |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,747,197 (GRCm39) |
K587N |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,109 (GRCm39) |
M382V |
|
Het |
Agpat3 |
A |
T |
10: 78,109,927 (GRCm39) |
F341I |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,982,328 (GRCm39) |
L767Q |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,203,230 (GRCm39) |
D124E |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,152 (GRCm39) |
L1644P |
probably damaging |
Het |
Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
Asns |
T |
A |
6: 7,689,277 (GRCm39) |
N75I |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,780,003 (GRCm39) |
V1145A |
|
Het |
Ccdc171 |
A |
G |
4: 83,579,984 (GRCm39) |
Q577R |
probably damaging |
Het |
Cd247 |
T |
A |
1: 165,688,605 (GRCm39) |
D154E |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,175,881 (GRCm39) |
N104K |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,299,543 (GRCm39) |
D312G |
possibly damaging |
Het |
Ddb1 |
C |
A |
19: 10,603,334 (GRCm39) |
L881I |
probably damaging |
Het |
Dgkh |
A |
T |
14: 78,813,382 (GRCm39) |
I1032N |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,788,468 (GRCm39) |
V942D |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,844 (GRCm39) |
T435A |
probably benign |
Het |
Fpr1 |
T |
C |
17: 18,097,155 (GRCm39) |
Q278R |
probably benign |
Het |
Fzr1 |
C |
T |
10: 81,205,228 (GRCm39) |
W256* |
probably null |
Het |
Gabrb1 |
T |
C |
5: 72,266,125 (GRCm39) |
S261P |
probably damaging |
Het |
Galr2 |
G |
T |
11: 116,172,474 (GRCm39) |
A55S |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,343,227 (GRCm39) |
K581N |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,076,664 (GRCm39) |
Y89F |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,170 (GRCm39) |
I26N |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 67,857,211 (GRCm39) |
F1058L |
probably damaging |
Het |
Ighv1-16 |
A |
C |
12: 114,629,680 (GRCm39) |
C36G |
probably benign |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Ilkap |
T |
C |
1: 91,313,067 (GRCm39) |
T143A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,926,168 (GRCm39) |
K103* |
probably null |
Het |
Mphosph9 |
A |
G |
5: 124,436,853 (GRCm39) |
I497T |
possibly damaging |
Het |
Mrgpra3 |
G |
A |
7: 47,239,908 (GRCm39) |
T6I |
possibly damaging |
Het |
Mrpl38 |
T |
C |
11: 116,023,384 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
T |
2: 22,434,457 (GRCm39) |
E813V |
possibly damaging |
Het |
Myo7b |
G |
T |
18: 32,092,519 (GRCm39) |
Q2093K |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,095,405 (GRCm39) |
K1851R |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,803,749 (GRCm39) |
D339V |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,468,300 (GRCm39) |
P407Q |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,093,483 (GRCm39) |
R153L |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,153,957 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,717,776 (GRCm39) |
F1046S |
probably damaging |
Het |
Pramel41 |
T |
G |
5: 94,596,366 (GRCm39) |
W468G |
probably benign |
Het |
Prkacb |
A |
T |
3: 146,461,446 (GRCm39) |
L107M |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,431,020 (GRCm39) |
|
probably null |
Het |
Rasl11b |
C |
A |
5: 74,357,994 (GRCm39) |
P88Q |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,448,460 (GRCm39) |
E503G |
possibly damaging |
Het |
Rnf216 |
T |
A |
5: 143,071,758 (GRCm39) |
K407N |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,875,706 (GRCm39) |
V243A |
probably benign |
Het |
Scrn3 |
G |
A |
2: 73,148,673 (GRCm39) |
M81I |
possibly damaging |
Het |
Scube2 |
T |
C |
7: 109,408,387 (GRCm39) |
T687A |
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,463,728 (GRCm39) |
F3L |
probably benign |
Het |
Sgcb |
C |
T |
5: 73,797,155 (GRCm39) |
V202I |
probably damaging |
Het |
Sgce |
A |
G |
6: 4,689,654 (GRCm39) |
V429A |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,286,229 (GRCm39) |
V574A |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,002,016 (GRCm39) |
L179S |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,571 (GRCm39) |
D58E |
probably damaging |
Het |
Taar3 |
T |
C |
10: 23,825,586 (GRCm39) |
I44T |
possibly damaging |
Het |
Tmem87b |
G |
A |
2: 128,673,391 (GRCm39) |
V227I |
probably benign |
Het |
Tnfsf9 |
T |
C |
17: 57,412,517 (GRCm39) |
L29P |
possibly damaging |
Het |
Tnip2 |
T |
C |
5: 34,654,215 (GRCm39) |
H391R |
probably benign |
Het |
Traf5 |
A |
G |
1: 191,729,768 (GRCm39) |
Y125H |
|
Het |
Ttc23 |
T |
G |
7: 67,316,961 (GRCm39) |
I77M |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 16,978,036 (GRCm39) |
N43S |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,977,103 (GRCm39) |
C142* |
probably null |
Het |
Vmn2r15 |
A |
C |
5: 109,435,008 (GRCm39) |
D565E |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,449,153 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,408 (GRCm39) |
D269V |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,572 (GRCm39) |
M255K |
probably benign |
Het |
Wfdc6a |
T |
A |
2: 164,421,746 (GRCm39) |
*137C |
probably null |
Het |
Wipi2 |
T |
C |
5: 142,652,639 (GRCm39) |
V417A |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,116 (GRCm39) |
V786L |
possibly damaging |
Het |
Zdhhc13 |
G |
A |
7: 48,445,697 (GRCm39) |
G26S |
probably benign |
Het |
Zscan25 |
T |
A |
5: 145,227,422 (GRCm39) |
V362D |
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 |
|
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 |
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'- CACCAGTGGGGAATGTTTTG -3'
(R):5'- ACTGTTGAATGCTGCGCTGG -3'
Sequencing Primer
(F):5'- CAAAAACCATGTCAAGTCACTTTTG -3'
(R):5'- CGCTGGGTGCTGTGCATG -3'
|
Posted On |
2019-06-07 |