Incidental Mutation 'R6970:Atp8a1'
ID |
542172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
045080-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6970 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67895805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 543
(V543A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: V558A
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 |
probably damaging
Transcript: ENSMUST00000072971
AA Change: V558A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: V558A
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 damaging
Transcript: ENSMUST00000135930
AA Change: V543A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: V543A
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
C |
7: 131,036,044 (GRCm39) |
Y285H |
possibly damaging |
Het |
Adam17 |
A |
G |
12: 21,395,669 (GRCm39) |
S285P |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,384,485 (GRCm39) |
N1082S |
probably benign |
Het |
Ahdc1 |
T |
A |
4: 132,789,656 (GRCm39) |
L299Q |
possibly damaging |
Het |
Ambra1 |
T |
A |
2: 91,602,945 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
BC034090 |
T |
A |
1: 155,117,185 (GRCm39) |
D311V |
probably damaging |
Het |
Blnk |
G |
T |
19: 40,950,821 (GRCm39) |
P110Q |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,875,927 (GRCm39) |
E968G |
probably damaging |
Het |
Ccdc14 |
A |
T |
16: 34,529,903 (GRCm39) |
E394V |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,491,954 (GRCm39) |
H1086Q |
probably benign |
Het |
Ccdc85b |
T |
A |
19: 5,507,248 (GRCm39) |
I60F |
probably damaging |
Het |
Ceacam20 |
T |
A |
7: 19,723,902 (GRCm39) |
L562Q |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,008,149 (GRCm39) |
F188L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,217,032 (GRCm39) |
V750A |
probably benign |
Het |
Dclk1 |
A |
T |
3: 55,374,022 (GRCm39) |
|
probably benign |
Het |
Ddx20 |
A |
T |
3: 105,587,674 (GRCm39) |
L434H |
probably damaging |
Het |
Ddx51 |
G |
A |
5: 110,804,728 (GRCm39) |
V547M |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 118,072,679 (GRCm39) |
Q1472L |
probably benign |
Het |
Dnajb13 |
T |
C |
7: 100,156,629 (GRCm39) |
E149G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,667,182 (GRCm39) |
E1422G |
probably benign |
Het |
Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,924 (GRCm39) |
N3192S |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,050,120 (GRCm39) |
D3994V |
probably damaging |
Het |
Fcgr1 |
C |
A |
3: 96,191,936 (GRCm39) |
|
probably null |
Het |
Gm12185 |
G |
A |
11: 48,798,739 (GRCm39) |
R585* |
probably null |
Het |
Gm32687 |
A |
G |
10: 81,715,304 (GRCm39) |
H232R |
probably benign |
Het |
Gm5431 |
G |
T |
11: 48,779,317 (GRCm39) |
A535D |
probably damaging |
Het |
Jarid2 |
C |
T |
13: 45,056,461 (GRCm39) |
P556S |
probably damaging |
Het |
Map3k4 |
C |
A |
17: 12,467,803 (GRCm39) |
G1077V |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,735 (GRCm39) |
T433A |
possibly damaging |
Het |
Ms4a20 |
A |
G |
19: 11,089,678 (GRCm39) |
|
probably null |
Het |
Mus81 |
G |
T |
19: 5,535,554 (GRCm39) |
H199Q |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,085,892 (GRCm39) |
T54M |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,551,506 (GRCm39) |
F1034L |
possibly damaging |
Het |
Nfatc1 |
A |
C |
18: 80,710,228 (GRCm39) |
S513A |
probably benign |
Het |
Ninj2 |
A |
G |
6: 120,175,092 (GRCm39) |
I88V |
possibly damaging |
Het |
Nomo1 |
C |
T |
7: 45,695,391 (GRCm39) |
P277L |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,941,810 (GRCm39) |
S571L |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,918,009 (GRCm39) |
M79L |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
Or9a7 |
T |
C |
6: 40,521,590 (GRCm39) |
S108G |
probably benign |
Het |
Pcdh15 |
C |
T |
10: 74,338,519 (GRCm39) |
P1005S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,375,070 (GRCm39) |
A942T |
possibly damaging |
Het |
Plagl1 |
T |
C |
10: 13,000,860 (GRCm39) |
C34R |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,549,280 (GRCm39) |
Q168R |
probably benign |
Het |
Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
Plekhm3 |
T |
G |
1: 64,931,912 (GRCm39) |
K564T |
possibly damaging |
Het |
Plpp2 |
A |
G |
10: 79,366,380 (GRCm39) |
V26A |
possibly damaging |
Het |
Prdm10 |
T |
G |
9: 31,241,119 (GRCm39) |
Y302* |
probably null |
Het |
Prdm8 |
A |
G |
5: 98,332,471 (GRCm39) |
E124G |
probably damaging |
Het |
Prg4 |
T |
G |
1: 150,331,657 (GRCm39) |
|
probably benign |
Het |
Qser1 |
A |
G |
2: 104,618,475 (GRCm39) |
V779A |
probably benign |
Het |
Rbm39 |
G |
A |
2: 156,009,504 (GRCm39) |
R123C |
probably damaging |
Het |
Ric1 |
C |
T |
19: 29,565,172 (GRCm39) |
P640S |
probably damaging |
Het |
Rpl14 |
G |
A |
9: 120,403,293 (GRCm39) |
|
probably benign |
Het |
Rsl1d1 |
T |
A |
16: 11,011,558 (GRCm39) |
D382V |
probably benign |
Het |
Rubcn |
G |
T |
16: 32,688,514 (GRCm39) |
|
probably benign |
Het |
Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
Slc26a11 |
T |
G |
11: 119,247,798 (GRCm39) |
V41G |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,151,960 (GRCm39) |
F172L |
possibly damaging |
Het |
Slc4a4 |
A |
C |
5: 89,327,690 (GRCm39) |
Y674S |
probably damaging |
Het |
Spata31e3 |
A |
T |
13: 50,401,007 (GRCm39) |
Y440N |
possibly damaging |
Het |
Strc |
A |
C |
2: 121,208,495 (GRCm39) |
M292R |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,694,381 (GRCm39) |
T210A |
probably benign |
Het |
Tcf7l2 |
C |
A |
19: 55,743,480 (GRCm39) |
A97E |
probably benign |
Het |
Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
Tepsin |
G |
A |
11: 119,986,190 (GRCm39) |
T168M |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,047,456 (GRCm39) |
M178L |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,939,119 (GRCm39) |
N236S |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,713,744 (GRCm39) |
V2531A |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,725,767 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
G |
T |
8: 12,687,000 (GRCm39) |
D630E |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,133,839 (GRCm39) |
W745* |
probably null |
Het |
Vmn2r115 |
G |
A |
17: 23,564,989 (GRCm39) |
G292D |
probably benign |
Het |
Vmn2r38 |
T |
A |
7: 9,078,340 (GRCm39) |
K681* |
probably null |
Het |
Xrcc6 |
A |
G |
15: 81,915,375 (GRCm39) |
K98E |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,530,407 (GRCm39) |
V13A |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,228,141 (GRCm39) |
I5T |
possibly damaging |
Het |
Zmynd8 |
C |
T |
2: 165,717,670 (GRCm39) |
E14K |
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 |
R6285:Atp8a1
|
UTSW |
5 |
67,824,950 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
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'- CAAAAGTGGATGTCATCAGCTTC -3'
(R):5'- TGAGGCATGTAACTCATCTACTAAG -3'
Sequencing Primer
(F):5'- CAGCTTCGTGCAAAACATCTGTG -3'
(R):5'- AACTCTTACAGGTGTCTGGGGAAC -3'
|
Posted On |
2018-11-28 |