Mutagenetix > Incidental Mutation

Incidental Mutation 'R3052:Atp8b1'

265011

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

Ic, FIC1

MMRRC Submission

040561-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64662050-64794342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64686179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 668 (E668G)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025482]

AlphaFold

Q148W0

Predicted Effect

probably benign
Transcript: ENSMUST00000025482
AA Change: E668G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: E668G

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

0.1505

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (38/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	G	A	8: 46,974,374 (GRCm39)	V330I	probably benign	Het
Adcy5	T	C	16: 35,124,086 (GRCm39)	L1255P	probably damaging	Het
Ampd2	C	T	3: 107,993,803 (GRCm39)		probably benign	Het
Asb18	T	A	1: 89,920,707 (GRCm39)	H149L	probably damaging	Het
Axdnd1	T	C	1: 156,169,440 (GRCm39)	T809A	probably damaging	Het
B430306N03Rik	T	C	17: 48,623,938 (GRCm39)	S80P	probably damaging	Het
Banp	G	A	8: 122,732,426 (GRCm39)		probably null	Het
Capn2	G	A	1: 182,315,337 (GRCm39)	T306M	probably benign	Het
Ccpg1	A	T	9: 72,913,150 (GRCm39)	S229C	probably damaging	Het
Cep250	G	T	2: 155,832,968 (GRCm39)	S1630I	probably damaging	Het
Ces1g	C	A	8: 94,061,676 (GRCm39)	V77L	possibly damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col6a3	T	A	1: 90,729,852 (GRCm39)	H1211L	possibly damaging	Het
Cyp2a5	A	G	7: 26,542,410 (GRCm39)	I471V	possibly damaging	Het
Gm10384	A	G	15: 36,871,996 (GRCm39)		noncoding transcript	Het
Gm973	T	C	1: 59,672,299 (GRCm39)		probably benign	Het
Ift88	C	T	14: 57,668,025 (GRCm39)	P9S	probably damaging	Het
Mfsd2a	A	G	4: 122,845,635 (GRCm39)	L172P	probably damaging	Het
Nav3	T	A	10: 109,739,613 (GRCm39)	I119F	probably damaging	Het
Nbeal2	T	C	9: 110,462,153 (GRCm39)	E1428G	possibly damaging	Het
Or12e7	C	A	2: 87,288,247 (GRCm39)	T246K	probably damaging	Het
Phf13	T	C	4: 152,076,820 (GRCm39)	D124G	possibly damaging	Het
Ppp3ca	T	G	3: 136,503,605 (GRCm39)	S59R	probably benign	Het
Rsu1	A	G	2: 13,174,946 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,033,370 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,752,515 (GRCm39)	V3598E	probably damaging	Het
Sc5d	G	T	9: 42,166,866 (GRCm39)	N224K	probably damaging	Het
Tacc2	G	A	7: 130,227,226 (GRCm39)	E1323K	possibly damaging	Het
Tbc1d21	T	A	9: 58,270,352 (GRCm39)	D141V	probably damaging	Het
Trp53bp2	T	C	1: 182,281,347 (GRCm39)	F983L	probably damaging	Het
Ubxn2a	T	A	12: 4,941,322 (GRCm39)	K95*	probably null	Het
Ugt3a1	G	T	15: 9,365,374 (GRCm39)	W329L	probably damaging	Het
Unk	T	C	11: 115,940,949 (GRCm39)	Y237H	probably benign	Het
Vcam1	A	C	3: 115,918,079 (GRCm39)		probably null	Het
Xpo6	T	C	7: 125,703,893 (GRCm39)	N1086D	probably damaging	Het
Zc3h12c	A	T	9: 52,055,356 (GRCm39)	L132Q	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
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
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'- CGTGACATCAGAGATGCAATG -3'
(R):5'- GACTCTATGGGATGGCTCAAC -3'

Sequencing Primer
(F):5'- CGTGACATCAGAGATGCAATGAATCG -3'
(R):5'- TGATGAGACCCACATATGTGCCATG -3'

Posted On

2015-02-05