Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Abcb4'

389235

Institutional Source

Beutler Lab

Gene Symbol

Abcb4

Ensembl Gene

ENSMUSG00000042476

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 4

Synonyms

Pgy-2, Mdr2, Pgy2, mdr-2

MMRRC Submission

042613-MU

Accession Numbers

Ncbi RefSeq: NM_008830; MGI: 97569

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8893717-8959231 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 8909054 bp (GRCm38)

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: ENSMUST00000199413

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

MGI Phenotype

Strain: 1857236
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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm38)		probably null	Het
Abca15	T	C	7: 120,346,096 (GRCm38)	I465T	probably damaging	Het
Abca3	C	T	17: 24,374,300 (GRCm38)	R224C	probably damaging	Het
Acan	T	C	7: 79,092,808 (GRCm38)		probably null	Het
Aebp2	G	A	6: 140,637,730 (GRCm38)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,660,160 (GRCm38)		probably null	Het
Ankib1	T	A	5: 3,734,011 (GRCm38)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,597,965 (GRCm38)	N293K	probably benign	Het
BC028528	T	A	3: 95,888,823 (GRCm38)		probably benign	Het
Bicc1	A	G	10: 70,947,883 (GRCm38)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,692,332 (GRCm38)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 98,872,824 (GRCm38)	R369G	probably damaging	Het
C1d	T	A	11: 17,266,674 (GRCm38)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,827,632 (GRCm38)	A453V	probably damaging	Het
Cd163	C	T	6: 124,325,288 (GRCm38)	T937I	probably damaging	Het
Celf2	C	T	2: 6,607,847 (GRCm38)		probably benign	Het
Chga	T	C	12: 102,562,837 (GRCm38)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,200,956 (GRCm38)	S77C	probably null	Het
Crim1	T	C	17: 78,280,129 (GRCm38)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,217,633 (GRCm38)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,136,622 (GRCm38)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 49,895,127 (GRCm38)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,373,741 (GRCm38)	L355Q	probably damaging	Het
Exd2	T	A	12: 80,496,790 (GRCm38)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,237,626 (GRCm38)	S316N	probably damaging	Het
Fchsd1	A	G	18: 37,964,810 (GRCm38)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,624,179 (GRCm38)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,979,429 (GRCm38)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,564,172 (GRCm38)	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532 (GRCm38)	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817 (GRCm38)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351 (GRCm38)		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535 (GRCm38)		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241 (GRCm38)	G327E	probably damaging	Het
Gm5039	T	C	12: 88,321,301 (GRCm38)	I61V	probably benign	Het
Gm5420	A	T	10: 21,691,727 (GRCm38)		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711 (GRCm38)	S21T	unknown	Het
Gm7104	A	T	12: 88,285,759 (GRCm38)		noncoding transcript	Het
Gp2	A	G	7: 119,449,114 (GRCm38)	I427T	probably damaging	Het
Gpc4	G	A	X: 52,074,563 (GRCm38)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,804,388 (GRCm38)	S60R	probably benign	Het
Helz2	T	C	2: 181,240,569 (GRCm38)	R144G	probably benign	Het
Herc1	A	T	9: 66,470,326 (GRCm38)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587 (GRCm38)	A144S	probably damaging	Het
Irs2	A	C	8: 10,987,012 (GRCm38)	*1322G	probably null	Het
Keg1	A	G	19: 12,719,157 (GRCm38)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,767,227 (GRCm38)	M37I	probably benign	Het
Klhl1	G	A	14: 96,136,706 (GRCm38)	P635S	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,944,839 (GRCm38)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm38)	Y215*	probably null	Het
Mdga2	C	T	12: 66,470,760 (GRCm38)	C100Y	possibly damaging	Het
Mthfd1	T	G	12: 76,294,374 (GRCm38)	V480G	probably damaging	Het
Mthfd1	T	A	12: 76,301,328 (GRCm38)	M582K	probably damaging	Het
Myh7b	G	C	2: 155,632,373 (GRCm38)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,756,980 (GRCm38)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,830,857 (GRCm38)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660 (GRCm38)	A161S	probably benign	Het
Nexmif	A	T	X: 104,087,350 (GRCm38)	N320K	probably damaging	Het
Olfr1216	A	G	2: 89,014,043 (GRCm38)	V7A	probably damaging	Het
Olfr1228	C	T	2: 89,249,417 (GRCm38)	M92I	probably benign	Het
Olfr164	A	T	16: 19,286,059 (GRCm38)	V228D	probably damaging	Het
Olfr239	T	C	17: 33,199,777 (GRCm38)	F239S	probably damaging	Het
Olfr457	A	T	6: 42,471,287 (GRCm38)	V297E	possibly damaging	Het
Olfr589	G	A	7: 103,155,735 (GRCm38)	P4L	probably benign	Het
Olfr727	T	C	14: 50,127,012 (GRCm38)	V145A	possibly damaging	Het
Olfr822	T	C	10: 130,074,593 (GRCm38)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,450,170 (GRCm38)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,310,889 (GRCm38)		probably null	Het
Plk4	G	A	3: 40,802,077 (GRCm38)		probably null	Het
Prmt8	A	G	6: 127,711,163 (GRCm38)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 34,883,599 (GRCm38)		probably benign	Het
Ptpn21	G	A	12: 98,679,407 (GRCm38)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 139,255,578 (GRCm38)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,966,706 (GRCm38)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,506 (GRCm38)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,144,252 (GRCm38)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm38)		probably benign	Het
Ros1	A	G	10: 52,124,075 (GRCm38)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,584,956 (GRCm38)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,651,712 (GRCm38)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,199,558 (GRCm38)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,879,556 (GRCm38)	V30L	probably damaging	Het
Spg21	A	G	9: 65,475,949 (GRCm38)	D139G	probably damaging	Het
Sun3	T	C	11: 9,038,314 (GRCm38)	T3A	probably damaging	Het
Tcrg-V1	T	A	13: 19,340,231 (GRCm38)	S42T	probably benign	Het
Tep1	A	G	14: 50,828,999 (GRCm38)	Y2335H	probably benign	Het
Timm21	C	A	18: 84,949,414 (GRCm38)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,742,065 (GRCm38)	N386K	probably benign	Het
Trappc10	G	T	10: 78,217,160 (GRCm38)	F260L	possibly damaging	Het
Trmt112	T	C	19: 6,910,753 (GRCm38)	V91A	probably benign	Het
Ucp2	A	T	7: 100,498,372 (GRCm38)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 21,012,320 (GRCm38)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,611,387 (GRCm38)		probably null	Het
Vmn2r105	T	A	17: 20,208,414 (GRCm38)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,411,159 (GRCm38)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,386,548 (GRCm38)	L601P	probably damaging	Het
Vps16	A	G	2: 130,439,452 (GRCm38)	S235G	probably benign	Het
Wap	T	C	11: 6,637,339 (GRCm38)		probably benign	Het
Wdr11	A	G	7: 129,624,711 (GRCm38)	I744M	probably benign	Het
Xiap	T	C	X: 42,094,465 (GRCm38)	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380 (GRCm38)	T385A	probably benign	Het
Zfp524	A	T	7: 5,018,417 (GRCm38)	I315F	probably benign	Het
Zfp62	T	A	11: 49,215,729 (GRCm38)	S216T	probably damaging	Het
Znfx1	T	C	2: 167,039,826 (GRCm38)	Y217C	probably damaging	Het

Other mutations in Abcb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Abcb4	APN	5	8,950,073 (GRCm38)	missense	probably benign	0.02
IGL00663:Abcb4	APN	5	8,927,916 (GRCm38)	missense	probably damaging	1.00
IGL00671:Abcb4	APN	5	8,930,745 (GRCm38)	nonsense	probably null
IGL00822:Abcb4	APN	5	8,950,046 (GRCm38)	missense	probably benign
IGL01080:Abcb4	APN	5	8,934,258 (GRCm38)	missense	probably damaging	1.00
IGL01152:Abcb4	APN	5	8,950,678 (GRCm38)	missense	probably benign	0.19
IGL01329:Abcb4	APN	5	8,894,166 (GRCm38)	critical splice donor site	probably null
IGL01483:Abcb4	APN	5	8,927,871 (GRCm38)	missense	probably damaging	0.99
IGL01594:Abcb4	APN	5	8,946,071 (GRCm38)	splice site	probably null
IGL01785:Abcb4	APN	5	8,915,058 (GRCm38)	nonsense	probably null
IGL01968:Abcb4	APN	5	8,927,913 (GRCm38)	missense	probably benign	0.33
IGL02579:Abcb4	APN	5	8,955,537 (GRCm38)	missense	probably damaging	1.00
IGL02654:Abcb4	APN	5	8,927,826 (GRCm38)	missense	possibly damaging	0.80
IGL02658:Abcb4	APN	5	8,934,240 (GRCm38)	missense	probably benign
IGL03229:Abcb4	APN	5	8,940,936 (GRCm38)	missense	probably damaging	0.97
IGL03335:Abcb4	APN	5	8,935,258 (GRCm38)	missense	probably benign	0.00
FR4737:Abcb4	UTSW	5	8,896,597 (GRCm38)	small deletion	probably benign
P0014:Abcb4	UTSW	5	8,950,083 (GRCm38)	missense	probably benign	0.01
R0102:Abcb4	UTSW	5	8,909,194 (GRCm38)	missense	probably damaging	0.99
R0102:Abcb4	UTSW	5	8,909,194 (GRCm38)	missense	probably damaging	0.99
R0309:Abcb4	UTSW	5	8,939,835 (GRCm38)	missense	probably damaging	1.00
R0311:Abcb4	UTSW	5	8,934,243 (GRCm38)	missense	probably benign
R0420:Abcb4	UTSW	5	8,941,050 (GRCm38)	missense	probably benign	0.03
R0449:Abcb4	UTSW	5	8,939,885 (GRCm38)	nonsense	probably null
R0609:Abcb4	UTSW	5	8,947,376 (GRCm38)	missense	probably damaging	0.96
R1459:Abcb4	UTSW	5	8,918,662 (GRCm38)	missense	possibly damaging	0.61
R1470:Abcb4	UTSW	5	8,940,968 (GRCm38)	missense	probably damaging	0.98
R1470:Abcb4	UTSW	5	8,940,968 (GRCm38)	missense	probably damaging	0.98
R1812:Abcb4	UTSW	5	8,928,578 (GRCm38)	critical splice donor site	probably null
R1944:Abcb4	UTSW	5	8,930,796 (GRCm38)	missense	probably damaging	1.00
R2002:Abcb4	UTSW	5	8,905,989 (GRCm38)	missense	probably benign	0.01
R2256:Abcb4	UTSW	5	8,958,431 (GRCm38)	missense	probably damaging	1.00
R3116:Abcb4	UTSW	5	8,896,610 (GRCm38)	missense	possibly damaging	0.86
R4112:Abcb4	UTSW	5	8,936,783 (GRCm38)	critical splice acceptor site	probably null
R4354:Abcb4	UTSW	5	8,918,771 (GRCm38)	missense	probably benign	0.44
R4512:Abcb4	UTSW	5	8,928,573 (GRCm38)	missense	probably damaging	1.00
R4588:Abcb4	UTSW	5	8,947,328 (GRCm38)	missense	probably benign	0.01
R4628:Abcb4	UTSW	5	8,907,399 (GRCm38)	missense	probably benign	0.08
R4708:Abcb4	UTSW	5	8,915,125 (GRCm38)	missense	possibly damaging	0.90
R4714:Abcb4	UTSW	5	8,930,906 (GRCm38)	splice site	probably null
R4754:Abcb4	UTSW	5	8,910,717 (GRCm38)	missense	probably damaging	1.00
R4846:Abcb4	UTSW	5	8,935,180 (GRCm38)	missense	probably benign
R4896:Abcb4	UTSW	5	8,907,267 (GRCm38)	missense	possibly damaging	0.81
R4944:Abcb4	UTSW	5	8,934,327 (GRCm38)	critical splice donor site	probably null
R4994:Abcb4	UTSW	5	8,928,524 (GRCm38)	missense	probably damaging	1.00
R5537:Abcb4	UTSW	5	8,955,485 (GRCm38)	missense	probably damaging	0.98
R5754:Abcb4	UTSW	5	8,934,320 (GRCm38)	missense	probably benign
R5833:Abcb4	UTSW	5	8,958,314 (GRCm38)	missense	probably damaging	1.00
R5934:Abcb4	UTSW	5	8,930,806 (GRCm38)	missense	probably benign	0.18
R6006:Abcb4	UTSW	5	8,946,026 (GRCm38)	missense	probably damaging	0.99
R6146:Abcb4	UTSW	5	8,896,587 (GRCm38)	missense	probably benign	0.05
R6183:Abcb4	UTSW	5	8,918,718 (GRCm38)	missense	probably benign
R6260:Abcb4	UTSW	5	8,934,219 (GRCm38)	nonsense	probably null
R6561:Abcb4	UTSW	5	8,927,825 (GRCm38)	missense	probably benign	0.14
R7016:Abcb4	UTSW	5	8,936,843 (GRCm38)	missense	probably benign	0.35
R7081:Abcb4	UTSW	5	8,934,263 (GRCm38)	missense	probably benign
R7326:Abcb4	UTSW	5	8,934,226 (GRCm38)	missense	probably benign	0.00
R7375:Abcb4	UTSW	5	8,918,671 (GRCm38)	missense	probably benign
R7787:Abcb4	UTSW	5	8,909,220 (GRCm38)	missense	probably damaging	1.00
R7836:Abcb4	UTSW	5	8,934,203 (GRCm38)	missense	probably benign
R8128:Abcb4	UTSW	5	8,958,395 (GRCm38)	missense	probably damaging	1.00
R8350:Abcb4	UTSW	5	8,928,578 (GRCm38)	critical splice donor site	probably null
R8438:Abcb4	UTSW	5	8,946,120 (GRCm38)	critical splice donor site	probably null
R8447:Abcb4	UTSW	5	8,907,278 (GRCm38)	missense	probably damaging	0.97
R8710:Abcb4	UTSW	5	8,955,495 (GRCm38)	missense	probably damaging	1.00
R8777:Abcb4	UTSW	5	8,939,894 (GRCm38)	missense	probably benign	0.01
R8777-TAIL:Abcb4	UTSW	5	8,939,894 (GRCm38)	missense	probably benign	0.01
R8837:Abcb4	UTSW	5	8,936,873 (GRCm38)	missense	probably damaging	0.99
R8987:Abcb4	UTSW	5	8,927,931 (GRCm38)	missense	probably benign	0.02
R9098:Abcb4	UTSW	5	8,958,441 (GRCm38)	missense	probably damaging	1.00
R9167:Abcb4	UTSW	5	8,936,849 (GRCm38)	nonsense	probably null
R9210:Abcb4	UTSW	5	8,955,591 (GRCm38)	missense	probably damaging	1.00
R9212:Abcb4	UTSW	5	8,955,591 (GRCm38)	missense	probably damaging	1.00
R9218:Abcb4	UTSW	5	8,927,960 (GRCm38)	missense	probably benign	0.20
R9242:Abcb4	UTSW	5	8,899,677 (GRCm38)	missense	probably damaging	1.00
R9376:Abcb4	UTSW	5	8,958,988 (GRCm38)	missense	probably damaging	1.00
R9476:Abcb4	UTSW	5	8,927,790 (GRCm38)	missense	probably damaging	1.00
RF015:Abcb4	UTSW	5	8,896,594 (GRCm38)	frame shift	probably null
RF047:Abcb4	UTSW	5	8,896,595 (GRCm38)	frame shift	probably null
Z1176:Abcb4	UTSW	5	8,959,005 (GRCm38)	missense	probably damaging	1.00
Z1177:Abcb4	UTSW	5	8,939,906 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAACGTCAGTCACATTAGCTTC -3'
(R):5'- GGTTTCACAGACCTTTGCCC -3'

Sequencing Primer
(F):5'- CGTCAGTCACATTAGCTTCTTAGAAG -3'
(R):5'- TTTGCCCAAACAGCTGTAGAG -3'

Posted On

2016-06-06