Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Abcb4'

25186

Institutional Source

Beutler Lab

Gene Symbol

Abcb4

Ensembl Gene

ENSMUSG00000042476

Gene Name

ATP-binding cassette, sub-family B member 4

Synonyms

mdr-2, Mdr2, Pgy2, Pgy-2

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8943717-9009231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8984243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 658 (K658E)

Ref Sequence

ENSEMBL: ENSMUSP00000142425 (fasta)

Gene Model

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

AlphaFold

P21440

Predicted Effect

probably benign
Transcript: ENSMUST00000003717
AA Change: K658E

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

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: K658E

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 benign
Transcript: ENSMUST00000196067
AA Change: K658E

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

SMART Domains

Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: K658E

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

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
Abca15	A	C	7: 120,002,127 (GRCm39)	M1547L	probably damaging	Het
Abr	A	G	11: 76,399,953 (GRCm39)	S15P	possibly damaging	Het
Adgrb2	G	C	4: 129,910,922 (GRCm39)	A1168P	probably damaging	Het
Adgre4	A	T	17: 56,109,010 (GRCm39)	E339V	probably benign	Het
Asprv1	T	C	6: 86,605,822 (GRCm39)	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,075,901 (GRCm39)	E37G	probably damaging	Het
Cd48	C	A	1: 171,527,148 (GRCm39)	Y191*	probably null	Het
Chd4	T	C	6: 125,078,628 (GRCm39)	I257T	probably benign	Het
Clca4b	T	C	3: 144,638,257 (GRCm39)	M2V	probably benign	Het
Dnah11	A	T	12: 118,090,868 (GRCm39)	D1025E	probably benign	Het
Erich5	A	G	15: 34,473,085 (GRCm39)	*363W	probably null	Het
Etl4	A	G	2: 20,811,940 (GRCm39)	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,672,083 (GRCm39)	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620 (GRCm39)	Q300R	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,366,361 (GRCm39)	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,320,327 (GRCm39)		probably benign	Het
Kdm4b	A	G	17: 56,693,200 (GRCm39)	R346G	probably benign	Het
Mbtd1	T	A	11: 93,812,183 (GRCm39)		probably null	Het
Med23	T	A	10: 24,773,256 (GRCm39)	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,962,341 (GRCm39)	I642L	probably damaging	Het
Or5b12	T	A	19: 12,897,460 (GRCm39)	Y71F	possibly damaging	Het
Or5b21	A	G	19: 12,839,233 (GRCm39)	I31M	probably benign	Het
Or8b48	T	C	9: 38,450,593 (GRCm39)	V134A	probably benign	Het
Pbld2	T	C	10: 62,890,286 (GRCm39)		probably null	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Plpp2	C	T	10: 79,363,414 (GRCm39)	R77K	probably damaging	Het
Pym1	G	T	10: 128,601,853 (GRCm39)	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,837,584 (GRCm39)	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,400,236 (GRCm39)	C175R	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Speg	T	C	1: 75,407,581 (GRCm39)	V3196A	probably damaging	Het
Syne1	T	A	10: 5,298,943 (GRCm39)	I1048L	possibly damaging	Het
Th	T	C	7: 142,449,778 (GRCm39)	E41G	probably damaging	Het
Tmx4	T	A	2: 134,440,446 (GRCm39)	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,110,872 (GRCm39)	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,935,958 (GRCm39)	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,732,412 (GRCm39)	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Vps18	T	C	2: 119,127,846 (GRCm39)	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,983,564 (GRCm39)	D670N	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGAGGATGGTGTCACAGTGCCT -3'
(R):5'- TGCTCTGCCTAGAGCTGCCAAAT -3'

Sequencing Primer
(F):5'- AGTGTCCTGTCCTTGATTTCAAAC -3'
(R):5'- GTAGCATGTGACCCACTATAAGAGTC -3'

Posted On

2013-04-16