Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00671:Abcb4'

13269

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 #

IGL00671

Quality Score

Status

Chromosome

Chromosomal Location

8943717-9009231 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 8980745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 576 (R576*)

Ref Sequence

ENSEMBL: ENSMUSP00000142425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003717] [ENSMUST00000196067]

AlphaFold

P21440

Predicted Effect

probably null
Transcript: ENSMUST00000003717
AA Change: R576*

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: R576*

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

Predicted Effect

probably null
Transcript: ENSMUST00000196067
AA Change: R576*

SMART Domains

Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: R576*

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	54	344	2.4e-95	PFAM
AAA	418	610	6.2e-22	SMART
Pfam:ABC_membrane	708	882	1.6e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199954

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astl	T	C	2: 127,185,941 (GRCm39)		probably null	Het
Atp6v1h	T	C	1: 5,194,694 (GRCm39)		probably null	Het
Avpr1a	A	T	10: 122,285,256 (GRCm39)	I183L	probably benign	Het
Cep83	A	G	10: 94,625,626 (GRCm39)	T679A	possibly damaging	Het
Dennd1b	A	T	1: 139,061,475 (GRCm39)	I386F	possibly damaging	Het
Dnaaf6rt	G	A	1: 31,262,053 (GRCm39)	V12I	probably benign	Het
Ect2	T	C	3: 27,192,818 (GRCm39)	N344S	probably benign	Het
Ghrh	G	A	2: 157,175,389 (GRCm39)	H31Y	probably benign	Het
Gpc6	A	T	14: 117,424,199 (GRCm39)	T96S	probably benign	Het
Man2b1	A	C	8: 85,820,567 (GRCm39)	D618A	probably damaging	Het
Myh2	A	G	11: 67,084,183 (GRCm39)	E1602G	probably damaging	Het
Myo16	T	A	8: 10,411,067 (GRCm39)	I175N	probably damaging	Het
Oga	C	A	19: 45,753,979 (GRCm39)	A632S	possibly damaging	Het
Otof	C	T	5: 30,543,097 (GRCm39)		probably null	Het
Otop2	A	G	11: 115,222,735 (GRCm39)	N539S	probably damaging	Het
Ralbp1	T	A	17: 66,171,607 (GRCm39)	E122V	possibly damaging	Het
Spata31e2	A	T	1: 26,723,940 (GRCm39)	S413R	possibly damaging	Het
Tcf12	T	A	9: 71,775,400 (GRCm39)	N450I	probably damaging	Het
Tle3	T	A	9: 61,319,652 (GRCm39)	N492K	probably damaging	Het
Ttll8	T	C	15: 88,798,356 (GRCm39)	D793G	probably benign	Het
Uggt2	T	C	14: 119,280,211 (GRCm39)	T756A	possibly damaging	Het
Zfand1	T	C	3: 10,411,084 (GRCm39)	H96R	probably damaging	Het
Zfp617	C	T	8: 72,686,386 (GRCm39)	R239*	probably null	Het
Zmpste24	A	G	4: 120,940,012 (GRCm39)		probably benign	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
IGL00822:Abcb4	APN	5	9,000,046 (GRCm39)	missense	probably benign
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