Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00822:Abcb4'

8532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcb4

Ensembl Gene

ENSMUSG00000042476

Gene Name

ATP-binding cassette, sub-family B member 4

Synonyms

mdr-2, Mdr2, Pgy2, Pgy-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00822

Quality Score

Status

Chromosome

Chromosomal Location

8943717-9009231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9000046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1005 (F1005L)

Ref Sequence

ENSEMBL: ENSMUSP00000003717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003717]

AlphaFold

P21440

Predicted Effect

probably benign
Transcript: ENSMUST00000003717
AA Change: F1005L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: F1005L

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	54	342	2e-94	PFAM
AAA	418	610	3.97e-20	SMART
Pfam:ABC_membrane	708	982	6.3e-77	PFAM
AAA	1058	1246	4.49e-19	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,988,792 (GRCm39)	S332P	probably benign	Het
Actr2	G	A	11: 20,044,367 (GRCm39)	R80W	probably damaging	Het
Adck1	T	C	12: 88,422,286 (GRCm39)	I299T	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Car15	A	T	16: 17,654,498 (GRCm39)	M146K	probably damaging	Het
Cyp4f39	A	G	17: 32,689,806 (GRCm39)	N84S	probably benign	Het
Dock8	G	T	19: 25,165,773 (GRCm39)	E1886*	probably null	Het
Kansl2	T	C	15: 98,426,734 (GRCm39)		probably benign	Het
Klc2	A	T	19: 5,161,541 (GRCm39)	V323E	probably damaging	Het
Lrrc7	A	G	3: 157,891,111 (GRCm39)	V352A	probably damaging	Het
Lrrc8c	G	T	5: 105,756,174 (GRCm39)	A650S	probably benign	Het
Ltbp1	A	G	17: 75,458,316 (GRCm39)	Y299C	probably damaging	Het
Myh13	A	G	11: 67,252,154 (GRCm39)	T1421A	probably damaging	Het
Myl3	C	A	9: 110,595,557 (GRCm39)	T56K	possibly damaging	Het
Nod1	T	C	6: 54,921,931 (GRCm39)	Y129C	probably damaging	Het
Odad2	A	T	18: 7,181,817 (GRCm39)	L836M	probably damaging	Het
Otog	G	A	7: 45,945,304 (GRCm39)	S2187N	probably benign	Het
Pank4	G	A	4: 155,065,059 (GRCm39)	R786H	possibly damaging	Het
Sag	A	G	1: 87,772,748 (GRCm39)		probably null	Het
Scn2b	G	A	9: 45,036,842 (GRCm39)	V117M	probably damaging	Het
Sec16b	G	T	1: 157,392,125 (GRCm39)	A886S	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spns3	A	T	11: 72,390,179 (GRCm39)		probably null	Het
Styk1	T	C	6: 131,278,625 (GRCm39)	K350E	possibly damaging	Het
Tns3	G	A	11: 8,393,976 (GRCm39)	T1291I	probably damaging	Het
Xntrpc	A	G	7: 101,733,575 (GRCm39)	I175V	probably damaging	Het
Zfp106	G	A	2: 120,344,641 (GRCm39)	R1745C	probably damaging	Het

Other mutations in Abcb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Abcb4	APN	5	9,000,073 (GRCm39)	missense	probably benign	0.02
IGL00663:Abcb4	APN	5	8,977,916 (GRCm39)	missense	probably damaging	1.00
IGL00671:Abcb4	APN	5	8,980,745 (GRCm39)	nonsense	probably null
IGL01080:Abcb4	APN	5	8,984,258 (GRCm39)	missense	probably damaging	1.00
IGL01152:Abcb4	APN	5	9,000,678 (GRCm39)	missense	probably benign	0.19
IGL01329:Abcb4	APN	5	8,944,166 (GRCm39)	critical splice donor site	probably null
IGL01483:Abcb4	APN	5	8,977,871 (GRCm39)	missense	probably damaging	0.99
IGL01594:Abcb4	APN	5	8,996,071 (GRCm39)	splice site	probably null
IGL01785:Abcb4	APN	5	8,965,058 (GRCm39)	nonsense	probably null
IGL01968:Abcb4	APN	5	8,977,913 (GRCm39)	missense	probably benign	0.33
IGL02579:Abcb4	APN	5	9,005,537 (GRCm39)	missense	probably damaging	1.00
IGL02654:Abcb4	APN	5	8,977,826 (GRCm39)	missense	possibly damaging	0.80
IGL02658:Abcb4	APN	5	8,984,240 (GRCm39)	missense	probably benign
IGL03229:Abcb4	APN	5	8,990,936 (GRCm39)	missense	probably damaging	0.97
IGL03335:Abcb4	APN	5	8,985,258 (GRCm39)	missense	probably benign	0.00
FR4737:Abcb4	UTSW	5	8,946,597 (GRCm39)	small deletion	probably benign
P0014:Abcb4	UTSW	5	9,000,083 (GRCm39)	missense	probably benign	0.01
R0102:Abcb4	UTSW	5	8,959,194 (GRCm39)	missense	probably damaging	0.99
R0102:Abcb4	UTSW	5	8,959,194 (GRCm39)	missense	probably damaging	0.99
R0309:Abcb4	UTSW	5	8,989,835 (GRCm39)	missense	probably damaging	1.00
R0311:Abcb4	UTSW	5	8,984,243 (GRCm39)	missense	probably benign
R0420:Abcb4	UTSW	5	8,991,050 (GRCm39)	missense	probably benign	0.03
R0449:Abcb4	UTSW	5	8,989,885 (GRCm39)	nonsense	probably null
R0609:Abcb4	UTSW	5	8,997,376 (GRCm39)	missense	probably damaging	0.96
R1459:Abcb4	UTSW	5	8,968,662 (GRCm39)	missense	possibly damaging	0.61
R1470:Abcb4	UTSW	5	8,990,968 (GRCm39)	missense	probably damaging	0.98
R1470:Abcb4	UTSW	5	8,990,968 (GRCm39)	missense	probably damaging	0.98
R1812:Abcb4	UTSW	5	8,978,578 (GRCm39)	critical splice donor site	probably null
R1944:Abcb4	UTSW	5	8,980,796 (GRCm39)	missense	probably damaging	1.00
R2002:Abcb4	UTSW	5	8,955,989 (GRCm39)	missense	probably benign	0.01
R2256:Abcb4	UTSW	5	9,008,431 (GRCm39)	missense	probably damaging	1.00
R3116:Abcb4	UTSW	5	8,946,610 (GRCm39)	missense	possibly damaging	0.86
R4112:Abcb4	UTSW	5	8,986,783 (GRCm39)	critical splice acceptor site	probably null
R4354:Abcb4	UTSW	5	8,968,771 (GRCm39)	missense	probably benign	0.44
R4512:Abcb4	UTSW	5	8,978,573 (GRCm39)	missense	probably damaging	1.00
R4588:Abcb4	UTSW	5	8,997,328 (GRCm39)	missense	probably benign	0.01
R4628:Abcb4	UTSW	5	8,957,399 (GRCm39)	missense	probably benign	0.08
R4708:Abcb4	UTSW	5	8,965,125 (GRCm39)	missense	possibly damaging	0.90
R4714:Abcb4	UTSW	5	8,980,906 (GRCm39)	splice site	probably null
R4754:Abcb4	UTSW	5	8,960,717 (GRCm39)	missense	probably damaging	1.00
R4846:Abcb4	UTSW	5	8,985,180 (GRCm39)	missense	probably benign
R4896:Abcb4	UTSW	5	8,957,267 (GRCm39)	missense	possibly damaging	0.81
R4944:Abcb4	UTSW	5	8,984,327 (GRCm39)	critical splice donor site	probably null
R4994:Abcb4	UTSW	5	8,978,524 (GRCm39)	missense	probably damaging	1.00
R5022:Abcb4	UTSW	5	8,959,054 (GRCm39)	splice site	probably null
R5537:Abcb4	UTSW	5	9,005,485 (GRCm39)	missense	probably damaging	0.98
R5754:Abcb4	UTSW	5	8,984,320 (GRCm39)	missense	probably benign
R5833:Abcb4	UTSW	5	9,008,314 (GRCm39)	missense	probably damaging	1.00
R5934:Abcb4	UTSW	5	8,980,806 (GRCm39)	missense	probably benign	0.18
R6006:Abcb4	UTSW	5	8,996,026 (GRCm39)	missense	probably damaging	0.99
R6146:Abcb4	UTSW	5	8,946,587 (GRCm39)	missense	probably benign	0.05
R6183:Abcb4	UTSW	5	8,968,718 (GRCm39)	missense	probably benign
R6260:Abcb4	UTSW	5	8,984,219 (GRCm39)	nonsense	probably null
R6561:Abcb4	UTSW	5	8,977,825 (GRCm39)	missense	probably benign	0.14
R7016:Abcb4	UTSW	5	8,986,843 (GRCm39)	missense	probably benign	0.35
R7081:Abcb4	UTSW	5	8,984,263 (GRCm39)	missense	probably benign
R7326:Abcb4	UTSW	5	8,984,226 (GRCm39)	missense	probably benign	0.00
R7375:Abcb4	UTSW	5	8,968,671 (GRCm39)	missense	probably benign
R7787:Abcb4	UTSW	5	8,959,220 (GRCm39)	missense	probably damaging	1.00
R7836:Abcb4	UTSW	5	8,984,203 (GRCm39)	missense	probably benign
R8128:Abcb4	UTSW	5	9,008,395 (GRCm39)	missense	probably damaging	1.00
R8350:Abcb4	UTSW	5	8,978,578 (GRCm39)	critical splice donor site	probably null
R8438:Abcb4	UTSW	5	8,996,120 (GRCm39)	critical splice donor site	probably null
R8447:Abcb4	UTSW	5	8,957,278 (GRCm39)	missense	probably damaging	0.97
R8710:Abcb4	UTSW	5	9,005,495 (GRCm39)	missense	probably damaging	1.00
R8777:Abcb4	UTSW	5	8,989,894 (GRCm39)	missense	probably benign	0.01
R8777-TAIL:Abcb4	UTSW	5	8,989,894 (GRCm39)	missense	probably benign	0.01
R8837:Abcb4	UTSW	5	8,986,873 (GRCm39)	missense	probably damaging	0.99
R8987:Abcb4	UTSW	5	8,977,931 (GRCm39)	missense	probably benign	0.02
R9098:Abcb4	UTSW	5	9,008,441 (GRCm39)	missense	probably damaging	1.00
R9167:Abcb4	UTSW	5	8,986,849 (GRCm39)	nonsense	probably null
R9210:Abcb4	UTSW	5	9,005,591 (GRCm39)	missense	probably damaging	1.00
R9212:Abcb4	UTSW	5	9,005,591 (GRCm39)	missense	probably damaging	1.00
R9218:Abcb4	UTSW	5	8,977,960 (GRCm39)	missense	probably benign	0.20
R9242:Abcb4	UTSW	5	8,949,677 (GRCm39)	missense	probably damaging	1.00
R9376:Abcb4	UTSW	5	9,008,988 (GRCm39)	missense	probably damaging	1.00
R9476:Abcb4	UTSW	5	8,977,790 (GRCm39)	missense	probably damaging	1.00
RF015:Abcb4	UTSW	5	8,946,594 (GRCm39)	frame shift	probably null
RF047:Abcb4	UTSW	5	8,946,595 (GRCm39)	frame shift	probably null
Z1176:Abcb4	UTSW	5	9,009,005 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcb4	UTSW	5	8,989,906 (GRCm39)	nonsense	probably null

Posted On

2012-12-06