Incidental Mutation 'R6285:Atp8a1'
| ID |
508165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
044455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67824950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 809
(I809V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
| AlphaFold |
P70704 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037380
AA Change: I809V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: I809V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
38 |
101 |
9.8e-27 |
PFAM |
|
Pfam:E1-E2_ATPase
|
106 |
371 |
3e-11 |
PFAM |
|
Pfam:HAD
|
406 |
810 |
3.8e-23 |
PFAM |
|
Pfam:Cation_ATPase
|
485 |
585 |
6e-14 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
827 |
1079 |
8.2e-82 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072971
AA Change: I809V
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: I809V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
104 |
375 |
2.1e-22 |
PFAM |
|
Pfam:Hydrolase
|
403 |
798 |
2.2e-14 |
PFAM |
|
Pfam:HAD
|
406 |
795 |
3e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
470 |
570 |
4.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135930
AA Change: I794V
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: I794V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
38 |
101 |
1.1e-26 |
PFAM |
|
Pfam:E1-E2_ATPase
|
106 |
371 |
8.6e-14 |
PFAM |
|
Pfam:HAD
|
406 |
795 |
3.6e-23 |
PFAM |
|
Pfam:Cation_ATPase
|
470 |
570 |
1.2e-13 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
812 |
1064 |
8.4e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200955
|
| SMART Domains |
Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
38 |
101 |
7.5e-25 |
PFAM |
|
Pfam:E1-E2_ATPase
|
106 |
371 |
3.7e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,324 (GRCm39) |
M370L |
probably benign |
Het |
| Aimp1 |
A |
G |
3: 132,373,265 (GRCm39) |
M225T |
possibly damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,622 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,520,157 (GRCm39) |
F1572Y |
probably damaging |
Het |
| Cd79a |
A |
G |
7: 24,598,772 (GRCm39) |
N107S |
possibly damaging |
Het |
| Cdc7 |
G |
A |
5: 107,130,925 (GRCm39) |
A428T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,191 (GRCm39) |
T974A |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,120 (GRCm39) |
N261K |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,241,001 (GRCm39) |
D8V |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,185 (GRCm39) |
D571G |
probably damaging |
Het |
| Cpe |
A |
C |
8: 65,070,645 (GRCm39) |
V200G |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,444,231 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,921 (GRCm39) |
C491W |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,252,856 (GRCm39) |
I183T |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,742,453 (GRCm39) |
H437Q |
possibly damaging |
Het |
| Dido1 |
C |
T |
2: 180,302,940 (GRCm39) |
A1655T |
probably benign |
Het |
| Eva1b |
A |
G |
4: 126,043,278 (GRCm39) |
D106G |
probably damaging |
Het |
| Evc2 |
G |
T |
5: 37,581,923 (GRCm39) |
S1189I |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,267,558 (GRCm39) |
L405Q |
probably damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,386,234 (GRCm39) |
M249L |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,326 (GRCm39) |
L526Q |
probably damaging |
Het |
| Gm19402 |
A |
C |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Gm2244 |
A |
G |
14: 19,590,865 (GRCm39) |
Y141H |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,870,666 (GRCm39) |
N98K |
probably damaging |
Het |
| Golga4 |
C |
T |
9: 118,387,695 (GRCm39) |
R616* |
probably null |
Het |
| Gpank1 |
T |
A |
17: 35,343,266 (GRCm39) |
S226T |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,770 (GRCm39) |
M141V |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,885 (GRCm39) |
I141S |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,273,059 (GRCm39) |
F628I |
probably benign |
Het |
| Kcp |
C |
A |
6: 29,502,364 (GRCm39) |
V227L |
probably benign |
Het |
| Knl1 |
T |
G |
2: 118,902,422 (GRCm39) |
C1374W |
probably damaging |
Het |
| Larp6 |
A |
T |
9: 60,645,043 (GRCm39) |
R394S |
probably benign |
Het |
| Lilra5 |
G |
A |
7: 4,245,114 (GRCm39) |
G253R |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,482,945 (GRCm39) |
S591P |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,134 (GRCm39) |
D163G |
probably damaging |
Het |
| Minar2 |
A |
G |
18: 59,205,296 (GRCm39) |
K28R |
probably benign |
Het |
| Mrpl16 |
T |
A |
19: 11,750,332 (GRCm39) |
I72K |
probably damaging |
Het |
| Nol11 |
C |
G |
11: 107,071,860 (GRCm39) |
R244S |
probably benign |
Het |
| Nr2f1 |
T |
C |
13: 78,343,782 (GRCm39) |
T161A |
probably benign |
Het |
| Nrdc |
G |
T |
4: 108,895,203 (GRCm39) |
V476F |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,477 (GRCm39) |
H175N |
probably damaging |
Het |
| Or10z1 |
A |
T |
1: 174,078,395 (GRCm39) |
S33T |
possibly damaging |
Het |
| Or13a22 |
T |
A |
7: 140,072,626 (GRCm39) |
L25Q |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,777,843 (GRCm39) |
H56L |
probably benign |
Het |
| P2rx1 |
A |
G |
11: 72,898,974 (GRCm39) |
I62V |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,674 (GRCm39) |
Y316F |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,576,065 (GRCm39) |
D490G |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,299 (GRCm39) |
Y87* |
probably null |
Het |
| Poldip2 |
A |
G |
11: 78,408,458 (GRCm39) |
|
probably null |
Het |
| Ppp2r5b |
T |
A |
19: 6,280,566 (GRCm39) |
Q304L |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,753 (GRCm39) |
F29L |
probably benign |
Het |
| Ptk6 |
A |
T |
2: 180,838,886 (GRCm39) |
L289Q |
probably null |
Het |
| Ptprt |
A |
T |
2: 161,743,417 (GRCm39) |
I508N |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,808 (GRCm39) |
F406S |
probably damaging |
Het |
| Rspo3 |
A |
G |
10: 29,375,926 (GRCm39) |
|
probably null |
Het |
| Septin8 |
G |
T |
11: 53,425,594 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
A |
C |
7: 28,487,471 (GRCm39) |
T345P |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,438,161 (GRCm39) |
E205G |
possibly damaging |
Het |
| Sqstm1 |
G |
A |
11: 50,093,418 (GRCm39) |
Q327* |
probably null |
Het |
| Susd3 |
T |
A |
13: 49,390,997 (GRCm39) |
S98C |
probably damaging |
Het |
| Tada2b |
G |
A |
5: 36,634,186 (GRCm39) |
R56W |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,615,045 (GRCm39) |
V546E |
possibly damaging |
Het |
| Tbx6 |
A |
G |
7: 126,380,740 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Usp24 |
T |
G |
4: 106,231,297 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
G |
2: 128,879,719 (GRCm39) |
T736P |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,406 (GRCm39) |
T727A |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,749,676 (GRCm39) |
T531M |
probably damaging |
Het |
|
| Other mutations in Atp8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00776:Atp8a1
|
APN |
5 |
67,906,486 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00778:Atp8a1
|
APN |
5 |
67,817,246 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01068:Atp8a1
|
APN |
5 |
67,824,680 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01152:Atp8a1
|
APN |
5 |
68,004,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01572:Atp8a1
|
APN |
5 |
67,824,994 (GRCm39) |
missense |
probably benign |
|
|
IGL01608:Atp8a1
|
APN |
5 |
67,970,479 (GRCm39) |
nonsense |
probably null |
|
|
IGL02171:Atp8a1
|
APN |
5 |
67,895,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02330:Atp8a1
|
APN |
5 |
67,970,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02381:Atp8a1
|
APN |
5 |
67,863,338 (GRCm39) |
missense |
probably benign |
|
|
IGL02420:Atp8a1
|
APN |
5 |
67,840,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Atp8a1
|
APN |
5 |
67,824,777 (GRCm39) |
splice site |
probably benign |
|
|
IGL02598:Atp8a1
|
APN |
5 |
67,840,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03259:Atp8a1
|
APN |
5 |
67,781,349 (GRCm39) |
splice site |
probably null |
|
|
IGL03336:Atp8a1
|
APN |
5 |
67,887,150 (GRCm39) |
nonsense |
probably null |
|
|
IGL03380:Atp8a1
|
APN |
5 |
67,889,529 (GRCm39) |
missense |
probably benign |
0.25 |
|
PIT4131001:Atp8a1
|
UTSW |
5 |
67,779,945 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Atp8a1
|
UTSW |
5 |
67,780,003 (GRCm39) |
missense |
|
|
|
R0208:Atp8a1
|
UTSW |
5 |
67,932,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0276:Atp8a1
|
UTSW |
5 |
67,944,016 (GRCm39) |
splice site |
probably benign |
|
|
R0279:Atp8a1
|
UTSW |
5 |
67,970,435 (GRCm39) |
splice site |
probably null |
|
|
R0329:Atp8a1
|
UTSW |
5 |
67,969,416 (GRCm39) |
splice site |
probably benign |
|
|
R0603:Atp8a1
|
UTSW |
5 |
67,914,039 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0715:Atp8a1
|
UTSW |
5 |
67,932,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0763:Atp8a1
|
UTSW |
5 |
67,817,226 (GRCm39) |
missense |
probably benign |
|
|
R1296:Atp8a1
|
UTSW |
5 |
67,780,049 (GRCm39) |
splice site |
probably benign |
|
|
R1631:Atp8a1
|
UTSW |
5 |
67,906,395 (GRCm39) |
splice site |
probably null |
|
|
R1764:Atp8a1
|
UTSW |
5 |
67,788,910 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1771:Atp8a1
|
UTSW |
5 |
67,805,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Atp8a1
|
UTSW |
5 |
67,904,661 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1897:Atp8a1
|
UTSW |
5 |
67,895,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Atp8a1
|
UTSW |
5 |
67,825,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2965:Atp8a1
|
UTSW |
5 |
67,805,049 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2966:Atp8a1
|
UTSW |
5 |
67,805,049 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4247:Atp8a1
|
UTSW |
5 |
67,824,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Atp8a1
|
UTSW |
5 |
67,926,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Atp8a1
|
UTSW |
5 |
67,922,221 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4426:Atp8a1
|
UTSW |
5 |
67,932,171 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4523:Atp8a1
|
UTSW |
5 |
67,824,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4576:Atp8a1
|
UTSW |
5 |
67,973,158 (GRCm39) |
intron |
probably benign |
|
|
R4622:Atp8a1
|
UTSW |
5 |
67,840,056 (GRCm39) |
intron |
probably benign |
|
|
R4639:Atp8a1
|
UTSW |
5 |
67,813,317 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4664:Atp8a1
|
UTSW |
5 |
67,919,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4732:Atp8a1
|
UTSW |
5 |
67,970,463 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4733:Atp8a1
|
UTSW |
5 |
67,970,463 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5071:Atp8a1
|
UTSW |
5 |
67,973,066 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5267:Atp8a1
|
UTSW |
5 |
67,919,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Atp8a1
|
UTSW |
5 |
67,863,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5424:Atp8a1
|
UTSW |
5 |
67,969,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Atp8a1
|
UTSW |
5 |
67,972,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Atp8a1
|
UTSW |
5 |
67,924,496 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5815:Atp8a1
|
UTSW |
5 |
67,906,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Atp8a1
|
UTSW |
5 |
67,904,628 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6341:Atp8a1
|
UTSW |
5 |
67,840,270 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6736:Atp8a1
|
UTSW |
5 |
67,824,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Atp8a1
|
UTSW |
5 |
67,908,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6887:Atp8a1
|
UTSW |
5 |
67,895,794 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6946:Atp8a1
|
UTSW |
5 |
67,779,968 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6970:Atp8a1
|
UTSW |
5 |
67,895,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Atp8a1
|
UTSW |
5 |
67,938,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7218:Atp8a1
|
UTSW |
5 |
67,860,324 (GRCm39) |
missense |
|
|
|
R7278:Atp8a1
|
UTSW |
5 |
67,781,380 (GRCm39) |
missense |
|
|
|
R7530:Atp8a1
|
UTSW |
5 |
67,902,971 (GRCm39) |
missense |
|
|
|
R7548:Atp8a1
|
UTSW |
5 |
67,973,071 (GRCm39) |
nonsense |
probably null |
|
|
R7594:Atp8a1
|
UTSW |
5 |
67,808,935 (GRCm39) |
missense |
|
|
|
R7722:Atp8a1
|
UTSW |
5 |
67,780,041 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8152:Atp8a1
|
UTSW |
5 |
67,919,925 (GRCm39) |
missense |
|
|
|
R9015:Atp8a1
|
UTSW |
5 |
67,887,250 (GRCm39) |
missense |
|
|
|
R9052:Atp8a1
|
UTSW |
5 |
67,936,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9086:Atp8a1
|
UTSW |
5 |
67,932,159 (GRCm39) |
missense |
|
|
|
R9169:Atp8a1
|
UTSW |
5 |
67,824,944 (GRCm39) |
missense |
|
|
|
R9183:Atp8a1
|
UTSW |
5 |
67,924,378 (GRCm39) |
missense |
|
|
|
R9245:Atp8a1
|
UTSW |
5 |
67,779,977 (GRCm39) |
missense |
unknown |
|
|
R9401:Atp8a1
|
UTSW |
5 |
67,906,492 (GRCm39) |
missense |
|
|
|
R9607:Atp8a1
|
UTSW |
5 |
67,817,250 (GRCm39) |
missense |
|
|
|
R9664:Atp8a1
|
UTSW |
5 |
67,889,524 (GRCm39) |
missense |
|
|
|
X0019:Atp8a1
|
UTSW |
5 |
67,906,484 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCAGGCACCGTGAACC -3'
(R):5'- AGATGCGTTTCCTTTATCCAGTTG -3'
Sequencing Primer
(F):5'- CCGTGAACCATCAACAAATTCTTC -3'
(R):5'- GCGTCGTTTATGGATCAAAAAGTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation