Mutagenetix > Incidental Mutation

Incidental Mutation 'R9167:Abcb4'

696120

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

068946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8943717-9009231 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 8986849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 756 (L756*)

Ref Sequence

ENSEMBL: ENSMUSP00000003717 (fasta)

Gene Model

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

AlphaFold

P21440

Predicted Effect

probably null
Transcript: ENSMUST00000003717
AA Change: L756*

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: L756*

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: L756*

SMART Domains

Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: L756*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,952 (GRCm39)	V815F	possibly damaging	Het
Acrbp	T	C	6: 125,039,942 (GRCm39)	L515P	probably damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Atic	T	A	1: 71,604,040 (GRCm39)	I201N	probably benign	Het
Avpr1b	T	C	1: 131,537,151 (GRCm39)	S312P	probably damaging	Het
Cables1	T	C	18: 12,039,029 (GRCm39)	V314A	possibly damaging	Het
Cd22	G	A	7: 30,575,430 (GRCm39)	T204I	probably benign	Het
Cep250	A	G	2: 155,828,920 (GRCm39)	N95D		Het
Ctla4	C	T	1: 60,951,695 (GRCm39)	R75W	probably damaging	Het
Cul7	A	G	17: 46,966,623 (GRCm39)	M649V	probably benign	Het
Ddx46	T	A	13: 55,802,915 (GRCm39)	V479E	probably null	Het
Dnah7a	T	C	1: 53,657,370 (GRCm39)	N802S	probably benign	Het
Fmn2	G	T	1: 174,331,056 (GRCm39)	R482L	unknown	Het
Fyn	T	G	10: 39,402,811 (GRCm39)	D194E	probably benign	Het
Hdac4	G	A	1: 91,875,256 (GRCm39)	T905M	probably benign	Het
Herc1	A	G	9: 66,411,900 (GRCm39)	I4707V	possibly damaging	Het
Hmgcs2	T	C	3: 98,204,430 (GRCm39)	I277T	possibly damaging	Het
Kcnj15	A	G	16: 95,096,741 (GRCm39)	D121G	probably damaging	Het
Kcnt2	A	G	1: 140,506,200 (GRCm39)	E899G	probably benign	Het
Kif16b	A	T	2: 142,542,840 (GRCm39)	L152*	probably null	Het
Krt73	A	G	15: 101,702,405 (GRCm39)	V486A	probably benign	Het
Lrrc37a	T	A	11: 103,347,658 (GRCm39)	K3012N	unknown	Het
Musk	A	T	4: 58,296,687 (GRCm39)	I96F	probably benign	Het
Myrfl	A	G	10: 116,667,450 (GRCm39)	V330A	probably damaging	Het
Nanp	A	T	2: 150,872,728 (GRCm39)	C67S	probably benign	Het
Nlrp4e	A	G	7: 23,039,951 (GRCm39)	N758S	probably benign	Het
Nrxn3	T	A	12: 89,154,068 (GRCm39)	V345D	probably damaging	Het
Nsun7	G	A	5: 66,435,994 (GRCm39)	V289I	possibly damaging	Het
Or52d1	A	G	7: 103,756,426 (GRCm39)	*313W	probably null	Het
Pde4a	T	C	9: 21,102,798 (GRCm39)	S161P	probably benign	Het
Pom121l2	C	T	13: 22,167,160 (GRCm39)	A477V	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,664,398 (GRCm39)	I1651N	probably damaging	Het
Serpinb6e	A	G	13: 34,023,009 (GRCm39)	F125L	possibly damaging	Het
Slc2a9	T	A	5: 38,549,092 (GRCm39)	T341S	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tasor2	A	G	13: 3,624,724 (GRCm39)	V1742A	probably benign	Het
Tlx2	T	A	6: 83,046,042 (GRCm39)	K211*	probably null	Het
Tmem266	A	G	9: 55,322,231 (GRCm39)	D174G	probably damaging	Het
Tpm3	T	A	3: 89,994,824 (GRCm39)	I147N	probably benign	Het
Unc93a	T	C	17: 13,335,108 (GRCm39)	K313E	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,138 (GRCm39)	E71A	probably benign	Het
Vwa2	T	A	19: 56,899,063 (GRCm39)	D754E	probably benign	Het
Zfp677	T	C	17: 21,613,460 (GRCm39)	V18A	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
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
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'- ACATGTTGGCAACTTGGGG -3'
(R):5'- GAGGTTGCATGTTACCAAGC -3'

Sequencing Primer
(F):5'- CCCCTGGACTGTACAATTAATAAGGG -3'
(R):5'- GCATGTTACCAAGCCTTGC -3'

Posted On

2022-02-07