Incidental Mutation 'R4676:Atp8b1'
ID |
349622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
042013-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4676 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 64671749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1091
(D1091E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: D1091E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: D1091E
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 |
|
Meta Mutation Damage Score |
0.0665 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (93/95) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
A |
1: 120,078,382 (GRCm39) |
I13N |
probably damaging |
Het |
Abcd3 |
T |
A |
3: 121,567,815 (GRCm39) |
T409S |
possibly damaging |
Het |
Acad12 |
C |
A |
5: 121,745,234 (GRCm39) |
W317L |
probably damaging |
Het |
Acap1 |
T |
A |
11: 69,780,294 (GRCm39) |
M50L |
probably benign |
Het |
Acvr1b |
T |
A |
15: 101,100,867 (GRCm39) |
V343E |
probably damaging |
Het |
Adgb |
C |
A |
10: 10,302,454 (GRCm39) |
G371W |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,082,774 (GRCm39) |
K1966R |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,114,515 (GRCm39) |
Q48* |
probably null |
Het |
Ano10 |
T |
C |
9: 122,092,853 (GRCm39) |
R159G |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,517,983 (GRCm39) |
M128V |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,228,416 (GRCm39) |
C554* |
probably null |
Het |
Atf6 |
T |
C |
1: 170,614,979 (GRCm39) |
Y538C |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,102,010 (GRCm39) |
Y85H |
possibly damaging |
Het |
Bcas2 |
A |
G |
3: 103,083,017 (GRCm39) |
|
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,211,056 (GRCm39) |
N463D |
probably damaging |
Het |
Capn7 |
A |
T |
14: 31,081,216 (GRCm39) |
H411L |
possibly damaging |
Het |
Cavin3 |
T |
C |
7: 105,130,320 (GRCm39) |
E164G |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,759,536 (GRCm39) |
|
probably benign |
Het |
Ccdc88b |
A |
G |
19: 6,830,368 (GRCm39) |
V858A |
probably benign |
Het |
Clcn3 |
A |
G |
8: 61,383,685 (GRCm39) |
|
probably benign |
Het |
Commd6 |
T |
C |
14: 101,877,720 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,505,341 (GRCm39) |
L2157I |
probably damaging |
Het |
Cspg4b |
T |
G |
13: 113,505,342 (GRCm39) |
L2157R |
probably damaging |
Het |
Cul3 |
G |
A |
1: 80,249,391 (GRCm39) |
L561F |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,524,761 (GRCm39) |
I131N |
probably damaging |
Het |
Dlgap3 |
T |
A |
4: 127,127,554 (GRCm39) |
Y741N |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,179,794 (GRCm39) |
V265A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,295,406 (GRCm39) |
I1380F |
possibly damaging |
Het |
Dync1h1 |
G |
T |
12: 110,628,975 (GRCm39) |
L4177F |
probably damaging |
Het |
Ethe1 |
G |
A |
7: 24,307,319 (GRCm39) |
V178M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,445,153 (GRCm39) |
|
probably null |
Het |
Get3 |
C |
T |
8: 85,745,502 (GRCm39) |
A219T |
probably benign |
Het |
Glt8d1 |
T |
C |
14: 30,728,649 (GRCm39) |
F26L |
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,054 (GRCm39) |
D63E |
probably benign |
Het |
Gm9996 |
T |
A |
10: 29,019,834 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
T |
G |
4: 124,947,266 (GRCm39) |
S629R |
possibly damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,447,462 (GRCm39) |
S381P |
probably damaging |
Het |
Igsf10 |
A |
C |
3: 59,233,370 (GRCm39) |
F1788V |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,642,864 (GRCm39) |
P935Q |
probably damaging |
Het |
Itch |
A |
C |
2: 155,041,355 (GRCm39) |
I468L |
probably benign |
Het |
Itga5 |
A |
T |
15: 103,265,637 (GRCm39) |
Y192N |
probably damaging |
Het |
Itih3 |
T |
A |
14: 30,643,643 (GRCm39) |
Q121L |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,640,906 (GRCm39) |
Q302L |
probably null |
Het |
Kctd17 |
T |
A |
15: 78,319,959 (GRCm39) |
|
probably benign |
Het |
Lsm1 |
T |
C |
8: 26,283,717 (GRCm39) |
L43P |
probably damaging |
Het |
Magi3 |
A |
T |
3: 103,923,141 (GRCm39) |
M1192K |
probably benign |
Het |
Mecom |
A |
G |
3: 30,322,817 (GRCm39) |
|
probably benign |
Het |
Minar1 |
A |
G |
9: 89,483,606 (GRCm39) |
V597A |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,477,855 (GRCm39) |
F63Y |
probably benign |
Het |
Naa16 |
A |
G |
14: 79,573,788 (GRCm39) |
|
probably benign |
Het |
Neto1 |
A |
T |
18: 86,416,427 (GRCm39) |
T45S |
possibly damaging |
Het |
Nlrp4a |
A |
T |
7: 26,149,654 (GRCm39) |
R420S |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,309,736 (GRCm39) |
D317G |
probably damaging |
Het |
Or8b53 |
A |
G |
9: 38,666,955 (GRCm39) |
|
probably benign |
Het |
Or9i16 |
C |
T |
19: 13,864,765 (GRCm39) |
D270N |
probably damaging |
Het |
Or9q2 |
T |
A |
19: 13,772,838 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde5a |
A |
T |
3: 122,541,542 (GRCm39) |
M11L |
possibly damaging |
Het |
Plxnb1 |
G |
A |
9: 108,939,503 (GRCm39) |
R1416Q |
possibly damaging |
Het |
Polm |
A |
T |
11: 5,785,749 (GRCm39) |
Y141* |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,612,975 (GRCm39) |
F32L |
probably damaging |
Het |
Scrt1 |
T |
A |
15: 76,405,868 (GRCm39) |
D13V |
possibly damaging |
Het |
Slc1a7 |
T |
A |
4: 107,834,871 (GRCm39) |
V79E |
possibly damaging |
Het |
Snurf |
T |
C |
7: 59,645,270 (GRCm39) |
Q48R |
probably benign |
Het |
Srek1 |
T |
C |
13: 103,894,695 (GRCm39) |
|
probably benign |
Het |
Stxbp5l |
T |
C |
16: 37,076,246 (GRCm39) |
S267G |
probably damaging |
Het |
Taf5 |
C |
T |
19: 47,063,409 (GRCm39) |
R320W |
probably damaging |
Het |
Tars2 |
A |
T |
3: 95,660,403 (GRCm39) |
N106K |
probably damaging |
Het |
Tatdn3 |
A |
T |
1: 190,781,531 (GRCm39) |
L207Q |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,501 (GRCm39) |
E849G |
probably damaging |
Het |
Tedc2 |
T |
C |
17: 24,438,985 (GRCm39) |
T111A |
probably benign |
Het |
Tfg |
T |
A |
16: 56,514,854 (GRCm39) |
|
probably null |
Het |
Tgds |
A |
T |
14: 118,353,643 (GRCm39) |
S225T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,852,671 (GRCm39) |
Y134* |
probably null |
Het |
Trappc1 |
T |
A |
11: 69,216,356 (GRCm39) |
V134D |
probably damaging |
Het |
Ttc3 |
C |
A |
16: 94,243,620 (GRCm39) |
P853Q |
probably damaging |
Het |
Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,964,606 (GRCm39) |
S643G |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,700,171 (GRCm39) |
S338T |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,067,007 (GRCm39) |
I271T |
possibly damaging |
Het |
Vipas39 |
T |
A |
12: 87,288,075 (GRCm39) |
Y445F |
probably damaging |
Het |
Vmn1r31 |
A |
C |
6: 58,448,998 (GRCm39) |
I289S |
probably damaging |
Het |
Zfp112 |
A |
G |
7: 23,825,685 (GRCm39) |
E551G |
probably damaging |
Het |
Zfp397 |
T |
A |
18: 24,093,854 (GRCm39) |
Y446* |
probably null |
Het |
Zfp442 |
A |
T |
2: 150,251,526 (GRCm39) |
H124Q |
probably 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 |
R2017: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 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
R4560:Atp8b1
|
UTSW |
18 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
R4562:Atp8b1
|
UTSW |
18 |
64,689,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Atp8b1
|
UTSW |
18 |
64,686,170 (GRCm39) |
missense |
probably null |
|
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'- TGGCACTGACCTACGCTTAC -3'
(R):5'- CGAGAAGGTTCTTTGCATCCC -3'
Sequencing Primer
(F):5'- GACCTACGCTTACTTTCGGAG -3'
(R):5'- CTCTTTTGCTTGAGCCAAGG -3'
|
Posted On |
2015-10-08 |