Incidental Mutation 'R2017:Atp8b1'
ID |
223306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
040026-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2017 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64673405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 989
(N989S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: N989S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: N989S
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
65 |
144 |
5.3e-29 |
PFAM |
Pfam:E1-E2_ATPase
|
146 |
413 |
6e-11 |
PFAM |
Pfam:HAD
|
451 |
902 |
2.4e-21 |
PFAM |
Pfam:Cation_ATPase
|
532 |
632 |
1e-12 |
PFAM |
Pfam:PhoLip_ATPase_C
|
919 |
1173 |
7.3e-82 |
PFAM |
low complexity region
|
1193 |
1207 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1232 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025C18Rik |
T |
C |
2: 164,920,946 (GRCm39) |
D29G |
unknown |
Het |
Abca13 |
A |
T |
11: 9,240,619 (GRCm39) |
L827F |
probably damaging |
Het |
Abcc1 |
T |
A |
16: 14,279,068 (GRCm39) |
V1126E |
probably damaging |
Het |
Abcc12 |
A |
G |
8: 87,290,617 (GRCm39) |
L41S |
probably damaging |
Het |
Adgrg7 |
T |
C |
16: 56,553,169 (GRCm39) |
T643A |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,755,747 (GRCm39) |
N240S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,446,655 (GRCm39) |
T1150A |
probably benign |
Het |
Apob |
G |
A |
12: 8,057,751 (GRCm39) |
D2078N |
possibly damaging |
Het |
Apool |
T |
A |
X: 111,274,258 (GRCm39) |
S234T |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,566,307 (GRCm39) |
P751S |
probably benign |
Het |
Astn2 |
G |
A |
4: 65,459,178 (GRCm39) |
T1079I |
probably damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,621 (GRCm39) |
D189G |
probably damaging |
Het |
Bcas1 |
A |
C |
2: 170,190,081 (GRCm39) |
|
probably null |
Het |
Btk |
T |
C |
X: 133,448,350 (GRCm39) |
D355G |
probably benign |
Het |
C2cd4c |
A |
G |
10: 79,448,823 (GRCm39) |
V108A |
possibly damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,727 (GRCm39) |
L264P |
probably damaging |
Het |
Cd22 |
A |
T |
7: 30,572,205 (GRCm39) |
L423Q |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,333,238 (GRCm39) |
D9G |
probably damaging |
Het |
Cer1 |
A |
T |
4: 82,801,120 (GRCm39) |
V181D |
probably damaging |
Het |
Ciita |
T |
C |
16: 10,329,540 (GRCm39) |
L584P |
probably damaging |
Het |
Cmss1 |
T |
C |
16: 57,136,641 (GRCm39) |
D77G |
probably damaging |
Het |
Col4a2 |
T |
C |
8: 11,495,086 (GRCm39) |
F1515L |
probably benign |
Het |
Cyria |
T |
A |
12: 12,412,362 (GRCm39) |
V208D |
probably damaging |
Het |
Dcaf1 |
A |
G |
9: 106,725,122 (GRCm39) |
E536G |
probably damaging |
Het |
Dcaf1 |
T |
A |
9: 106,716,287 (GRCm39) |
D360E |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,327,896 (GRCm39) |
I3370F |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
Edn3 |
A |
G |
2: 174,620,455 (GRCm39) |
E103G |
probably benign |
Het |
Efemp1 |
G |
T |
11: 28,871,613 (GRCm39) |
R376L |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,121 (GRCm39) |
M4V |
probably benign |
Het |
Emilin3 |
G |
A |
2: 160,751,530 (GRCm39) |
R170C |
possibly damaging |
Het |
Epx |
T |
C |
11: 87,765,163 (GRCm39) |
D178G |
probably damaging |
Het |
Fkbp10 |
G |
A |
11: 100,312,499 (GRCm39) |
V252I |
possibly damaging |
Het |
Flnc |
G |
A |
6: 29,443,796 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,813,076 (GRCm39) |
K3132E |
possibly damaging |
Het |
Gla |
C |
T |
X: 133,497,071 (GRCm39) |
A39T |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,006,501 (GRCm39) |
T1033M |
probably damaging |
Het |
Hsd17b8 |
A |
T |
17: 34,245,187 (GRCm39) |
M259K |
probably damaging |
Het |
Ift70a1 |
A |
G |
2: 75,811,801 (GRCm39) |
L94P |
probably benign |
Het |
Ikzf4 |
C |
T |
10: 128,470,026 (GRCm39) |
G498D |
probably damaging |
Het |
Impg1 |
T |
C |
9: 80,322,720 (GRCm39) |
Y95C |
probably damaging |
Het |
Ino80c |
T |
A |
18: 24,244,810 (GRCm39) |
K136* |
probably null |
Het |
Iqsec1 |
A |
C |
6: 90,666,912 (GRCm39) |
H508Q |
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,528,788 (GRCm39) |
H305R |
possibly damaging |
Het |
Jup |
T |
A |
11: 100,277,167 (GRCm39) |
T14S |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klf12 |
T |
C |
14: 100,260,073 (GRCm39) |
R219G |
possibly damaging |
Het |
Klhl42 |
G |
T |
6: 147,009,291 (GRCm39) |
V377L |
probably benign |
Het |
Large1 |
A |
G |
8: 73,578,825 (GRCm39) |
F460S |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,025,958 (GRCm39) |
D402V |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,391,951 (GRCm39) |
Y1158F |
probably benign |
Het |
Map2 |
T |
A |
1: 66,451,958 (GRCm39) |
S365T |
probably damaging |
Het |
Mapk8ip1 |
A |
G |
2: 92,221,379 (GRCm39) |
|
probably null |
Het |
Med26 |
A |
G |
8: 73,250,791 (GRCm39) |
S103P |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,570,121 (GRCm39) |
S394P |
possibly damaging |
Het |
Nle1 |
G |
T |
11: 82,796,373 (GRCm39) |
P166Q |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,807 (GRCm39) |
I254T |
probably benign |
Het |
Or1p1c |
T |
A |
11: 74,161,159 (GRCm39) |
W315R |
probably benign |
Het |
Or4g7 |
G |
T |
2: 111,309,532 (GRCm39) |
M134I |
probably benign |
Het |
Or52j3 |
T |
C |
7: 102,836,137 (GRCm39) |
F110L |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,373 (GRCm39) |
L83P |
possibly damaging |
Het |
Pacs2 |
A |
T |
12: 113,026,077 (GRCm39) |
N545Y |
probably damaging |
Het |
Palld |
T |
C |
8: 62,137,799 (GRCm39) |
E652G |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,801,676 (GRCm39) |
N184S |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,161,873 (GRCm39) |
V955A |
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,204,340 (GRCm39) |
I898N |
possibly damaging |
Het |
Pramel13 |
A |
G |
4: 144,121,244 (GRCm39) |
V260A |
possibly damaging |
Het |
Prr36 |
T |
A |
8: 4,265,205 (GRCm39) |
T182S |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,565 (GRCm39) |
S112G |
probably benign |
Het |
Ptprj |
C |
T |
2: 90,294,958 (GRCm39) |
V417M |
probably damaging |
Het |
Ptprm |
G |
T |
17: 67,264,148 (GRCm39) |
|
probably null |
Het |
Rasgrp2 |
T |
C |
19: 6,463,195 (GRCm39) |
V498A |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,597,700 (GRCm39) |
N513S |
possibly damaging |
Het |
Rhbdf1 |
A |
G |
11: 32,160,471 (GRCm39) |
I693T |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,345,665 (GRCm39) |
T1143A |
probably damaging |
Het |
Spata17 |
A |
G |
1: 186,780,650 (GRCm39) |
S366P |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,070,568 (GRCm39) |
L2406P |
probably benign |
Het |
Tasor2 |
A |
T |
13: 3,626,770 (GRCm39) |
I1060K |
probably benign |
Het |
Tgfb2 |
A |
T |
1: 186,362,962 (GRCm39) |
Y287* |
probably null |
Het |
Trip11 |
A |
T |
12: 101,851,619 (GRCm39) |
V815E |
probably benign |
Het |
Trp53bp2 |
G |
T |
1: 182,276,580 (GRCm39) |
V854L |
probably benign |
Het |
Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,282,582 (GRCm39) |
K678R |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,977,931 (GRCm39) |
N138K |
probably benign |
Het |
Zup1 |
A |
T |
10: 33,803,460 (GRCm39) |
N541K |
possibly damaging |
Het |
|
Other mutations in Atp8b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00472:Atp8b1
|
APN |
18 |
64,697,501 (GRCm39) |
missense |
probably benign |
0.23 |
IGL00907:Atp8b1
|
APN |
18 |
64,694,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00962:Atp8b1
|
APN |
18 |
64,664,515 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01433:Atp8b1
|
APN |
18 |
64,706,590 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01525:Atp8b1
|
APN |
18 |
64,672,323 (GRCm39) |
nonsense |
probably null |
|
IGL01645:Atp8b1
|
APN |
18 |
64,679,184 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02008:Atp8b1
|
APN |
18 |
64,671,766 (GRCm39) |
splice site |
probably benign |
|
IGL02227:Atp8b1
|
APN |
18 |
64,695,261 (GRCm39) |
missense |
probably benign |
|
IGL02231:Atp8b1
|
APN |
18 |
64,683,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02326:Atp8b1
|
APN |
18 |
64,671,654 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02562:Atp8b1
|
APN |
18 |
64,715,057 (GRCm39) |
missense |
probably benign |
|
IGL02929:Atp8b1
|
APN |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
enchilada
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4520001:Atp8b1
|
UTSW |
18 |
64,701,251 (GRCm39) |
missense |
probably benign |
0.34 |
PIT4696001:Atp8b1
|
UTSW |
18 |
64,672,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0144:Atp8b1
|
UTSW |
18 |
64,704,445 (GRCm39) |
splice site |
probably benign |
|
R0193:Atp8b1
|
UTSW |
18 |
64,694,707 (GRCm39) |
missense |
probably benign |
|
R0277:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0308:Atp8b1
|
UTSW |
18 |
64,678,315 (GRCm39) |
nonsense |
probably null |
|
R0323:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0403:Atp8b1
|
UTSW |
18 |
64,673,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Atp8b1
|
UTSW |
18 |
64,704,724 (GRCm39) |
splice site |
probably null |
|
R0614:Atp8b1
|
UTSW |
18 |
64,666,658 (GRCm39) |
splice site |
probably benign |
|
R0883:Atp8b1
|
UTSW |
18 |
64,697,612 (GRCm39) |
missense |
probably benign |
0.44 |
R1077:Atp8b1
|
UTSW |
18 |
64,706,333 (GRCm39) |
nonsense |
probably null |
|
R1292:Atp8b1
|
UTSW |
18 |
64,704,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R1494:Atp8b1
|
UTSW |
18 |
64,697,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Atp8b1
|
UTSW |
18 |
64,683,503 (GRCm39) |
missense |
probably benign |
0.00 |
R1534:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1650:Atp8b1
|
UTSW |
18 |
64,704,620 (GRCm39) |
splice site |
probably benign |
|
R1772:Atp8b1
|
UTSW |
18 |
64,706,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2016:Atp8b1
|
UTSW |
18 |
64,673,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R2043:Atp8b1
|
UTSW |
18 |
64,738,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2223:Atp8b1
|
UTSW |
18 |
64,697,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3052:Atp8b1
|
UTSW |
18 |
64,686,179 (GRCm39) |
missense |
probably benign |
0.04 |
R3694:Atp8b1
|
UTSW |
18 |
64,666,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3738:Atp8b1
|
UTSW |
18 |
64,666,800 (GRCm39) |
splice site |
probably benign |
|
R4211:Atp8b1
|
UTSW |
18 |
64,686,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4362:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Atp8b1
|
UTSW |
18 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
R4560:Atp8b1
|
UTSW |
18 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
R4562:Atp8b1
|
UTSW |
18 |
64,689,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Atp8b1
|
UTSW |
18 |
64,686,170 (GRCm39) |
missense |
probably null |
|
R4676:Atp8b1
|
UTSW |
18 |
64,671,749 (GRCm39) |
missense |
probably benign |
0.01 |
R4738:Atp8b1
|
UTSW |
18 |
64,678,251 (GRCm39) |
missense |
probably benign |
0.31 |
R4774:Atp8b1
|
UTSW |
18 |
64,666,730 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4808:Atp8b1
|
UTSW |
18 |
64,694,782 (GRCm39) |
missense |
probably benign |
0.01 |
R4868:Atp8b1
|
UTSW |
18 |
64,684,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Atp8b1
|
UTSW |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5289:Atp8b1
|
UTSW |
18 |
64,679,158 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5328:Atp8b1
|
UTSW |
18 |
64,664,462 (GRCm39) |
missense |
probably benign |
0.00 |
R5400:Atp8b1
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
R5587:Atp8b1
|
UTSW |
18 |
64,672,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R5623:Atp8b1
|
UTSW |
18 |
64,679,165 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5651:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
R5652:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
R5653:Atp8b1
|
UTSW |
18 |
64,678,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R5667:Atp8b1
|
UTSW |
18 |
64,714,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R5689:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Atp8b1
|
UTSW |
18 |
64,710,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R6315:Atp8b1
|
UTSW |
18 |
64,664,550 (GRCm39) |
missense |
probably damaging |
0.97 |
R6759:Atp8b1
|
UTSW |
18 |
64,679,161 (GRCm39) |
missense |
probably benign |
0.00 |
R6850:Atp8b1
|
UTSW |
18 |
64,689,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7255:Atp8b1
|
UTSW |
18 |
64,689,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7606:Atp8b1
|
UTSW |
18 |
64,688,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Atp8b1
|
UTSW |
18 |
64,706,376 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7639:Atp8b1
|
UTSW |
18 |
64,697,614 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7698:Atp8b1
|
UTSW |
18 |
64,704,093 (GRCm39) |
missense |
probably benign |
0.03 |
R7727:Atp8b1
|
UTSW |
18 |
64,678,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Atp8b1
|
UTSW |
18 |
64,674,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R7785:Atp8b1
|
UTSW |
18 |
64,689,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R7874:Atp8b1
|
UTSW |
18 |
64,704,095 (GRCm39) |
missense |
probably benign |
0.30 |
R7990:Atp8b1
|
UTSW |
18 |
64,671,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8020:Atp8b1
|
UTSW |
18 |
64,679,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R8161:Atp8b1
|
UTSW |
18 |
64,690,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R9007:Atp8b1
|
UTSW |
18 |
64,684,931 (GRCm39) |
missense |
probably benign |
0.40 |
R9064:Atp8b1
|
UTSW |
18 |
64,697,491 (GRCm39) |
missense |
probably benign |
0.12 |
R9266:Atp8b1
|
UTSW |
18 |
64,710,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9266:Atp8b1
|
UTSW |
18 |
64,704,108 (GRCm39) |
missense |
probably benign |
0.08 |
R9326:Atp8b1
|
UTSW |
18 |
64,706,344 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Atp8b1
|
UTSW |
18 |
64,704,476 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTATTGTTGCTTGGCAG -3'
(R):5'- GATTGTTGCTATGGAAAAGCCTG -3'
Sequencing Primer
(F):5'- CAGGTATACCGGGGTTTATCAGAGC -3'
(R):5'- GTGCTACATCTCACTGCATAGAC -3'
|
Posted On |
2014-08-25 |