Incidental Mutation 'R2696:Atp10a'
| ID |
251062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10a
|
| Ensembl Gene |
ENSMUSG00000025324 |
| Gene Name |
ATPase, class V, type 10A |
| Synonyms |
pfatp, Atp10c |
| MMRRC Submission |
040434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R2696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
58305914-58479168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58463366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 966
(S966R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168747]
|
| AlphaFold |
O54827 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168747
AA Change: S966R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: S966R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,668,228 (GRCm39) |
T540S |
probably benign |
Het |
| Acp7 |
G |
T |
7: 28,314,001 (GRCm39) |
H369Q |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,747,702 (GRCm39) |
N65S |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,259 (GRCm39) |
V620A |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,370,017 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,285,092 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,871 (GRCm39) |
H291R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,416 (GRCm39) |
Y4C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,278,722 (GRCm39) |
N1106D |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,352,914 (GRCm39) |
D662G |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,808 (GRCm39) |
V297E |
possibly damaging |
Het |
| Faf1 |
T |
A |
4: 109,698,525 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gdf3 |
A |
C |
6: 122,583,859 (GRCm39) |
F169L |
probably benign |
Het |
| Ifi213 |
G |
A |
1: 173,417,590 (GRCm39) |
T274I |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,231 (GRCm39) |
D1746G |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,826 (GRCm39) |
K32R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,698,239 (GRCm39) |
Q594L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,890 (GRCm39) |
I402N |
probably benign |
Het |
| Med18 |
G |
A |
4: 132,187,281 (GRCm39) |
R118W |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,372 (GRCm39) |
E414G |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,168,176 (GRCm39) |
T447A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,279,935 (GRCm39) |
E27G |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,283,439 (GRCm38) |
L406S |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,145,998 (GRCm39) |
I36T |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,735 (GRCm39) |
I19T |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,585 (GRCm39) |
Y156C |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,145,708 (GRCm39) |
T172S |
probably benign |
Het |
| Pknox2 |
G |
A |
9: 36,820,987 (GRCm39) |
R292* |
probably null |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,532,600 (GRCm39) |
L212P |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,653 (GRCm39) |
I215M |
possibly damaging |
Het |
| Psmg2 |
T |
C |
18: 67,781,288 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptp4a1 |
A |
T |
1: 30,985,213 (GRCm39) |
M4K |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,552,427 (GRCm39) |
I475L |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCGGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,659,522 (GRCm39) |
I70N |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,205,203 (GRCm39) |
K4T |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,119 (GRCm39) |
Y939C |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,579,345 (GRCm39) |
*229W |
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,058,662 (GRCm39) |
G206C |
probably damaging |
Het |
| Spata9 |
A |
G |
13: 76,125,895 (GRCm39) |
Q126R |
probably benign |
Het |
| Speg |
A |
T |
1: 75,383,570 (GRCm39) |
D1186V |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,115,359 (GRCm39) |
M197R |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,697,363 (GRCm39) |
D1975G |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,176,385 (GRCm39) |
C224* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,698,807 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,721,116 (GRCm39) |
E397K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,344 (GRCm39) |
M313K |
probably damaging |
Het |
| Ulk3 |
A |
G |
9: 57,497,724 (GRCm39) |
I74V |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,573 (GRCm39) |
V194A |
probably damaging |
Het |
| Zfp27 |
C |
T |
7: 29,595,792 (GRCm39) |
A58T |
possibly damaging |
Het |
| Zfp398 |
T |
G |
6: 47,843,879 (GRCm39) |
*512E |
probably null |
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 |
|
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'- GCTGCAATTCCTTTTCTGGAG -3'
(R):5'- TTTTGCAAAGGGGTCGATCG -3'
Sequencing Primer
(F):5'- CAGTGCCTGAGAAGGACTTC -3'
(R):5'- TCGATCGGCAGCAGAGGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation