Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01329:Abcb4'

74447

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 #

IGL01329

Quality Score

Status

Chromosome

Chromosomal Location

8943717-9009231 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 8944166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142425 (fasta)

Gene Model

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

AlphaFold

P21440

Predicted Effect

probably null
Transcript: ENSMUST00000003717

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476

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

SMART Domains

Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476

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: ENSMUST00000197458

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	T	5: 3,784,194 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,860,733 (GRCm39)	Y195C	probably damaging	Het
Cand2	T	C	6: 115,759,755 (GRCm39)	I142T	probably benign	Het
Cdh15	T	C	8: 123,592,062 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,479,534 (GRCm39)	G217D	probably damaging	Het
Cfap54	T	A	10: 92,917,385 (GRCm39)	H25L	unknown	Het
Cfap95	A	G	19: 23,630,100 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,778,889 (GRCm39)	V266A	probably benign	Het
D3Ertd751e	A	G	3: 41,703,132 (GRCm39)	D69G	probably benign	Het
Dnah3	T	C	7: 119,622,164 (GRCm39)	I1518V	probably damaging	Het
Entpd8	A	G	2: 24,974,358 (GRCm39)	K381R	probably benign	Het
Fli1	T	A	9: 32,335,397 (GRCm39)	K345I	probably damaging	Het
G6pd2	T	C	5: 61,967,281 (GRCm39)	V352A	probably damaging	Het
Gbp11	C	T	5: 105,475,482 (GRCm39)		probably null	Het
Gm11992	A	G	11: 9,018,383 (GRCm39)	*292W	probably null	Het
Ifnar2	T	A	16: 91,188,599 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,111 (GRCm39)	K661R	probably benign	Het
Inf2	G	T	12: 112,578,290 (GRCm39)	E651*	probably null	Het
Ints1	A	G	5: 139,753,258 (GRCm39)		probably benign	Het
Iqcf4	T	C	9: 106,447,832 (GRCm39)	K26E	probably benign	Het
Map4k3	A	G	17: 80,951,613 (GRCm39)	V289A	probably benign	Het
Mis18bp1	T	C	12: 65,205,215 (GRCm39)	K319R	possibly damaging	Het
Nubpl	T	C	12: 52,352,638 (GRCm39)	V291A	probably damaging	Het
Or4f56	A	G	2: 111,703,295 (GRCm39)	F302L	probably benign	Het
Or4k15c	C	T	14: 50,321,454 (GRCm39)	R228H	probably benign	Het
Or8b57	A	G	9: 40,003,324 (GRCm39)	S313P	possibly damaging	Het
Or8k38	T	C	2: 86,488,551 (GRCm39)	N84D	probably benign	Het
Otof	A	G	5: 30,598,723 (GRCm39)	S29P	probably benign	Het
Pcca	A	G	14: 122,927,545 (GRCm39)	D436G	possibly damaging	Het
Rasef	T	A	4: 73,645,882 (GRCm39)	T496S	probably damaging	Het
Saa2	A	G	7: 46,402,896 (GRCm39)	D49G	probably benign	Het
Scart1	T	A	7: 139,804,552 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,547,852 (GRCm39)	I1015V	probably benign	Het
Sim2	T	C	16: 93,907,119 (GRCm39)	Y154H	possibly damaging	Het
Spag17	A	G	3: 100,002,865 (GRCm39)	H1863R	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Svil	A	G	18: 5,064,501 (GRCm39)	E1111G	probably benign	Het
Trabd2b	T	C	4: 114,266,322 (GRCm39)	V112A	probably damaging	Het
Vmn1r205	T	C	13: 22,776,273 (GRCm39)	I276M	probably benign	Het
Vps13d	A	T	4: 144,882,776 (GRCm39)	I939N	possibly damaging	Het
Zc3h11a	T	C	1: 133,553,600 (GRCm39)	M515V	probably benign	Het
Zfp457	T	C	13: 67,442,330 (GRCm39)	T82A	possibly 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
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
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

2013-10-07