Incidental Mutation 'R4738:Atp8b1'
ID |
359472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
041964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4738 (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 64678251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 882
(R882G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: R882G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: R882G
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: 96.9%
- 20x: 94.3%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,121,849 (GRCm39) |
I176T |
probably benign |
Het |
Abtb3 |
C |
T |
10: 85,463,112 (GRCm39) |
Q626* |
probably null |
Het |
Angpt2 |
C |
T |
8: 18,791,075 (GRCm39) |
D74N |
probably benign |
Het |
Apol10a |
C |
T |
15: 77,372,841 (GRCm39) |
T159I |
possibly damaging |
Het |
Areg |
T |
C |
5: 91,294,583 (GRCm39) |
I247T |
possibly damaging |
Het |
Atg16l2 |
A |
G |
7: 100,946,385 (GRCm39) |
L129P |
probably damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,556,062 (GRCm39) |
S246T |
probably benign |
Het |
Atp9a |
A |
G |
2: 168,510,101 (GRCm39) |
V444A |
probably benign |
Het |
Babam2 |
T |
A |
5: 32,058,486 (GRCm39) |
Y211N |
probably damaging |
Het |
Ccdc127 |
T |
G |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
Cep192 |
A |
T |
18: 68,017,901 (GRCm39) |
K2500* |
probably null |
Het |
Cnot4 |
T |
C |
6: 35,028,311 (GRCm39) |
N435S |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,606,564 (GRCm39) |
I620V |
probably damaging |
Het |
Cyth4 |
G |
A |
15: 78,490,074 (GRCm39) |
M62I |
probably benign |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,407,880 (GRCm39) |
R1984Q |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
Disp2 |
A |
G |
2: 118,620,807 (GRCm39) |
Y513C |
probably damaging |
Het |
Dph7 |
T |
C |
2: 24,853,143 (GRCm39) |
S86P |
possibly damaging |
Het |
Eif3b |
T |
A |
5: 140,415,833 (GRCm39) |
M384K |
probably benign |
Het |
Emc1 |
G |
T |
4: 139,089,513 (GRCm39) |
G227V |
possibly damaging |
Het |
Eri2 |
A |
G |
7: 119,386,955 (GRCm39) |
|
probably null |
Het |
Frzb |
A |
G |
2: 80,254,941 (GRCm39) |
|
probably null |
Het |
Ganc |
T |
A |
2: 120,283,075 (GRCm39) |
V743D |
probably damaging |
Het |
Gfpt1 |
C |
A |
6: 87,031,729 (GRCm39) |
|
probably benign |
Het |
Gm3086 |
A |
T |
12: 70,016,155 (GRCm39) |
|
probably benign |
Het |
Gsdmc2 |
A |
T |
15: 63,698,650 (GRCm39) |
Y315* |
probably null |
Het |
Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
Hhip |
C |
T |
8: 80,719,199 (GRCm39) |
D443N |
probably damaging |
Het |
Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
Kank2 |
T |
C |
9: 21,685,915 (GRCm39) |
N653S |
probably damaging |
Het |
Klhdc1 |
G |
T |
12: 69,329,907 (GRCm39) |
R345S |
probably benign |
Het |
Larp7 |
A |
G |
3: 127,339,694 (GRCm39) |
|
probably null |
Het |
Lgals12 |
A |
G |
19: 7,581,464 (GRCm39) |
V81A |
probably benign |
Het |
Lhx9 |
A |
G |
1: 138,760,486 (GRCm39) |
L288P |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,456 (GRCm39) |
H213L |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,540 (GRCm39) |
C101R |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
Neb |
A |
C |
2: 52,077,494 (GRCm39) |
S1846A |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,936 (GRCm39) |
S346P |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,747,819 (GRCm39) |
D43N |
probably damaging |
Het |
Or10h5 |
A |
G |
17: 33,434,784 (GRCm39) |
F178S |
probably benign |
Het |
Or1e1c |
G |
T |
11: 73,266,176 (GRCm39) |
L200F |
possibly damaging |
Het |
Or51e1 |
T |
A |
7: 102,359,378 (GRCm39) |
I304N |
probably damaging |
Het |
Or5h19 |
T |
C |
16: 58,856,558 (GRCm39) |
I181V |
probably benign |
Het |
Or5p63 |
A |
T |
7: 107,811,201 (GRCm39) |
N178K |
probably damaging |
Het |
Osbpl10 |
A |
G |
9: 115,045,642 (GRCm39) |
E426G |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,887,234 (GRCm39) |
V210A |
probably damaging |
Het |
Pam |
A |
T |
1: 97,850,857 (GRCm39) |
V167D |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
Pbx4 |
C |
T |
8: 70,317,619 (GRCm39) |
T201M |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,536,468 (GRCm39) |
C821R |
probably benign |
Het |
Plekhg3 |
T |
C |
12: 76,623,688 (GRCm39) |
I976T |
probably damaging |
Het |
Pold1 |
G |
A |
7: 44,190,753 (GRCm39) |
R304C |
probably damaging |
Het |
Prss38 |
T |
C |
11: 59,263,771 (GRCm39) |
T314A |
probably benign |
Het |
Psph |
T |
C |
5: 129,846,450 (GRCm39) |
|
probably null |
Het |
Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,862,173 (GRCm39) |
E648G |
probably damaging |
Het |
Ralgds |
A |
G |
2: 28,435,428 (GRCm39) |
E465G |
probably damaging |
Het |
Rfng |
T |
C |
11: 120,674,790 (GRCm39) |
T67A |
probably damaging |
Het |
Rps6kl1 |
G |
T |
12: 85,187,161 (GRCm39) |
F181L |
probably benign |
Het |
Spata46 |
G |
A |
1: 170,139,455 (GRCm39) |
M151I |
possibly damaging |
Het |
Ssbp1 |
T |
A |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,455,330 (GRCm39) |
A3064V |
possibly damaging |
Het |
Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
Tdpoz4 |
T |
C |
3: 93,704,396 (GRCm39) |
I231T |
probably damaging |
Het |
Tff3 |
G |
A |
17: 31,346,483 (GRCm39) |
P30S |
probably benign |
Het |
Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
Tlk2 |
T |
A |
11: 105,147,708 (GRCm39) |
H369Q |
probably benign |
Het |
Tnfaip8 |
A |
G |
18: 50,223,569 (GRCm39) |
T14A |
probably damaging |
Het |
Tspan17 |
T |
A |
13: 54,942,877 (GRCm39) |
C116* |
probably null |
Het |
Ttn |
T |
C |
2: 76,710,890 (GRCm39) |
|
probably benign |
Het |
Tyr |
T |
C |
7: 87,141,855 (GRCm39) |
Y158C |
probably null |
Het |
U2af1l4 |
G |
T |
7: 30,262,773 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,282,939 (GRCm39) |
D559V |
probably damaging |
Het |
Wfikkn2 |
T |
A |
11: 94,129,902 (GRCm39) |
T80S |
probably benign |
Het |
Zdhhc2 |
T |
A |
8: 40,917,183 (GRCm39) |
|
probably null |
Het |
Zfp521 |
T |
C |
18: 13,977,111 (GRCm39) |
K1101E |
possibly damaging |
Het |
Zfp595 |
A |
T |
13: 67,465,229 (GRCm39) |
F345I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,745,739 (GRCm39) |
R566S |
probably benign |
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 |
|
R4676:Atp8b1
|
UTSW |
18 |
64,671,749 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TTCCAGAGGGTAGGTCAAGG -3'
(R):5'- CTGAAGCTGAAGTTCCCAAGG -3'
Sequencing Primer
(F):5'- GGAAAGCTGCCTTCAGTGATACC -3'
(R):5'- CTGAAGTTCCCAAGGACAGAG -3'
|
Posted On |
2015-11-11 |