Mutagenetix > Incidental Mutation

Incidental Mutation 'R7495:Abcb1b'

581029

Institutional Source

Beutler Lab

Gene Symbol

Abcb1b

Ensembl Gene

ENSMUSG00000028970

Gene Name

ATP-binding cassette, sub-family B member 1B

Synonyms

mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1

MMRRC Submission

045568-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R7495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8848147-8916314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8915871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1251 (E1251G)

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009058]

AlphaFold

P06795

Predicted Effect

probably damaging
Transcript: ENSMUST00000009058
AA Change: E1251G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: E1251G

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
Pfam:ABC_membrane	50	342	1.4e-96	PFAM
AAA	418	610	4.32e-21	SMART
Pfam:ABC_membrane	709	984	1.9e-75	PFAM
AAA	1060	1248	4.13e-18	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: 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. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(2) Gene trapped(8)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,913,963 (GRCm39)		probably null	Het
Arap2	C	T	5: 62,833,893 (GRCm39)	S858N	possibly damaging	Het
Capn10	T	C	1: 92,871,092 (GRCm39)	F301L	probably damaging	Het
Catip	T	C	1: 74,401,851 (GRCm39)	W9R	probably benign	Het
Cfap46	A	G	7: 139,183,112 (GRCm39)		probably null	Het
Cpq	C	T	15: 33,302,586 (GRCm39)	R246C	probably damaging	Het
Dgkh	A	G	14: 78,816,239 (GRCm39)	S1067P	probably benign	Het
Dpp3	T	C	19: 4,967,941 (GRCm39)	E316G	probably damaging	Het
Dpp9	T	C	17: 56,502,044 (GRCm39)	Q508R	probably benign	Het
Frem2	T	C	3: 53,424,258 (GRCm39)	N3060D	probably benign	Het
Fstl5	A	G	3: 76,615,099 (GRCm39)	Y720C	possibly damaging	Het
Gm28168	T	C	1: 117,875,637 (GRCm39)	S89P	possibly damaging	Het
Hk2	C	T	6: 82,704,346 (GRCm39)	G900E	probably damaging	Het
Hrh1	A	C	6: 114,457,634 (GRCm39)	D305A	probably benign	Het
Htt	C	T	5: 34,968,821 (GRCm39)	S435L	probably benign	Het
Ice2	G	T	9: 69,323,511 (GRCm39)	V669L	probably benign	Het
Klk1b27	G	A	7: 43,705,500 (GRCm39)	V191I	probably benign	Het
Med12l	A	G	3: 59,152,194 (GRCm39)	K993R	probably damaging	Het
Nfe2l1	A	G	11: 96,710,622 (GRCm39)	Y536H	probably damaging	Het
Nr4a2	T	C	2: 57,002,171 (GRCm39)	D94G	possibly damaging	Het
Oit3	T	C	10: 59,259,765 (GRCm39)	D546G	possibly damaging	Het
Paxbp1	T	C	16: 90,813,837 (GRCm39)	T847A	probably damaging	Het
Pde12	A	T	14: 26,389,994 (GRCm39)	N238K	probably benign	Het
Pfkfb3	A	C	2: 11,487,312 (GRCm39)	I366S	probably damaging	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Ptprb	C	A	10: 116,177,353 (GRCm39)	Q1018K	probably benign	Het
Rxfp3	C	A	15: 11,036,011 (GRCm39)	G454C	probably damaging	Het
Scn5a	A	G	9: 119,372,200 (GRCm39)	V223A	probably damaging	Het
Sema4c	C	A	1: 36,589,774 (GRCm39)	V527L	probably benign	Het
Slk	C	A	19: 47,627,417 (GRCm39)	P1182T	probably damaging	Het
Stt3a	A	G	9: 36,659,235 (GRCm39)	V368A	probably benign	Het
Trpm3	T	C	19: 22,875,160 (GRCm39)	F601L	probably benign	Het
Ttn	T	C	2: 76,540,299 (GRCm39)	D34229G	probably benign	Het
Vmn2r107	A	G	17: 20,595,271 (GRCm39)	H608R	possibly damaging	Het
Vmn2r49	A	T	7: 9,710,826 (GRCm39)	C635*	probably null	Het
Zfp473	A	T	7: 44,387,368 (GRCm39)	F95Y	probably benign	Het
Zfp984	A	C	4: 147,839,287 (GRCm39)	S521R	possibly damaging	Het

Other mutations in Abcb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Abcb1b	APN	5	8,877,704 (GRCm39)	missense	probably benign	0.34
IGL00979:Abcb1b	APN	5	8,875,293 (GRCm39)	splice site	probably benign
IGL02157:Abcb1b	APN	5	8,855,487 (GRCm39)	splice site	probably benign
IGL02478:Abcb1b	APN	5	8,856,018 (GRCm39)	missense	probably damaging	0.98
IGL03174:Abcb1b	APN	5	8,877,752 (GRCm39)	missense	probably benign	0.03
IGL03189:Abcb1b	APN	5	8,895,814 (GRCm39)	missense	probably benign
IGL03195:Abcb1b	APN	5	8,903,607 (GRCm39)	missense	possibly damaging	0.83
PIT4283001:Abcb1b	UTSW	5	8,863,693 (GRCm39)	missense	probably damaging	1.00
R0049:Abcb1b	UTSW	5	8,875,661 (GRCm39)	missense	probably damaging	1.00
R0166:Abcb1b	UTSW	5	8,903,468 (GRCm39)	missense	probably damaging	1.00
R0254:Abcb1b	UTSW	5	8,877,409 (GRCm39)	missense	probably benign
R0319:Abcb1b	UTSW	5	8,877,428 (GRCm39)	missense	probably benign	0.01
R0358:Abcb1b	UTSW	5	8,871,423 (GRCm39)	missense	probably benign	0.16
R0365:Abcb1b	UTSW	5	8,856,009 (GRCm39)	missense	probably damaging	1.00
R0408:Abcb1b	UTSW	5	8,903,446 (GRCm39)	missense	probably damaging	0.98
R0521:Abcb1b	UTSW	5	8,914,238 (GRCm39)	missense	probably damaging	1.00
R0533:Abcb1b	UTSW	5	8,914,113 (GRCm39)	critical splice acceptor site	probably null
R0847:Abcb1b	UTSW	5	8,895,764 (GRCm39)	missense	probably damaging	0.99
R1037:Abcb1b	UTSW	5	8,875,657 (GRCm39)	missense	probably benign	0.03
R1432:Abcb1b	UTSW	5	8,887,771 (GRCm39)	missense	possibly damaging	0.69
R1437:Abcb1b	UTSW	5	8,871,436 (GRCm39)	missense	possibly damaging	0.90
R1520:Abcb1b	UTSW	5	8,864,768 (GRCm39)	missense	probably damaging	1.00
R1686:Abcb1b	UTSW	5	8,848,782 (GRCm39)	missense	probably damaging	0.97
R1700:Abcb1b	UTSW	5	8,899,537 (GRCm39)	missense	probably benign	0.44
R1973:Abcb1b	UTSW	5	8,862,746 (GRCm39)	missense	probably benign	0.01
R1993:Abcb1b	UTSW	5	8,871,322 (GRCm39)	missense	possibly damaging	0.61
R2157:Abcb1b	UTSW	5	8,874,791 (GRCm39)	missense	probably benign	0.37
R2207:Abcb1b	UTSW	5	8,874,803 (GRCm39)	missense	probably benign	0.23
R2968:Abcb1b	UTSW	5	8,911,485 (GRCm39)	missense	probably damaging	1.00
R3858:Abcb1b	UTSW	5	8,863,581 (GRCm39)	missense	probably benign	0.11
R4223:Abcb1b	UTSW	5	8,863,722 (GRCm39)	missense	probably damaging	0.97
R4379:Abcb1b	UTSW	5	8,915,875 (GRCm39)	missense	probably benign	0.00
R4674:Abcb1b	UTSW	5	8,860,615 (GRCm39)	missense	probably benign
R4964:Abcb1b	UTSW	5	8,911,602 (GRCm39)	missense	probably damaging	1.00
R4964:Abcb1b	UTSW	5	8,862,671 (GRCm39)	missense	probably benign	0.00
R5167:Abcb1b	UTSW	5	8,862,656 (GRCm39)	missense	probably damaging	0.98
R5216:Abcb1b	UTSW	5	8,863,705 (GRCm39)	missense	probably benign	0.04
R5328:Abcb1b	UTSW	5	8,887,694 (GRCm39)	missense	possibly damaging	0.69
R5391:Abcb1b	UTSW	5	8,855,481 (GRCm39)	missense	probably null	0.00
R5399:Abcb1b	UTSW	5	8,877,410 (GRCm39)	missense	probably benign
R6047:Abcb1b	UTSW	5	8,856,066 (GRCm39)	missense	probably damaging	1.00
R6157:Abcb1b	UTSW	5	8,874,245 (GRCm39)	missense	possibly damaging	0.81
R6293:Abcb1b	UTSW	5	8,903,493 (GRCm39)	missense	probably benign	0.05
R6493:Abcb1b	UTSW	5	8,874,698 (GRCm39)	missense	probably damaging	1.00
R6593:Abcb1b	UTSW	5	8,903,491 (GRCm39)	missense	probably benign
R6799:Abcb1b	UTSW	5	8,862,656 (GRCm39)	missense	probably damaging	0.98
R6944:Abcb1b	UTSW	5	8,863,693 (GRCm39)	missense	probably damaging	1.00
R7028:Abcb1b	UTSW	5	8,855,441 (GRCm39)	missense	probably damaging	0.99
R7227:Abcb1b	UTSW	5	8,875,593 (GRCm39)	missense	probably damaging	1.00
R7573:Abcb1b	UTSW	5	8,878,866 (GRCm39)	missense	possibly damaging	0.80
R7681:Abcb1b	UTSW	5	8,899,619 (GRCm39)	missense	probably benign	0.00
R7827:Abcb1b	UTSW	5	8,887,747 (GRCm39)	missense	probably damaging	0.96
R7860:Abcb1b	UTSW	5	8,882,258 (GRCm39)	missense	probably benign	0.12
R7961:Abcb1b	UTSW	5	8,878,870 (GRCm39)	missense	possibly damaging	0.65
R8009:Abcb1b	UTSW	5	8,878,870 (GRCm39)	missense	possibly damaging	0.65
R8054:Abcb1b	UTSW	5	8,874,272 (GRCm39)	missense	probably benign
R8226:Abcb1b	UTSW	5	8,871,390 (GRCm39)	missense	probably damaging	1.00
R8283:Abcb1b	UTSW	5	8,856,086 (GRCm39)	missense	probably damaging	1.00
R8286:Abcb1b	UTSW	5	8,914,119 (GRCm39)	missense	probably damaging	1.00
R8362:Abcb1b	UTSW	5	8,848,758 (GRCm39)	missense	probably benign	0.00
R8387:Abcb1b	UTSW	5	8,874,698 (GRCm39)	missense	probably damaging	1.00
R8426:Abcb1b	UTSW	5	8,911,632 (GRCm39)	critical splice donor site	probably null
R8495:Abcb1b	UTSW	5	8,915,865 (GRCm39)	missense	probably damaging	0.99
R8715:Abcb1b	UTSW	5	8,862,750 (GRCm39)	missense	probably benign
R8874:Abcb1b	UTSW	5	8,875,671 (GRCm39)	missense	possibly damaging	0.95
R9236:Abcb1b	UTSW	5	8,874,893 (GRCm39)	critical splice donor site	probably null
R9292:Abcb1b	UTSW	5	8,862,843 (GRCm39)	missense	probably benign	0.20
R9300:Abcb1b	UTSW	5	8,875,614 (GRCm39)	missense	probably benign	0.00
R9387:Abcb1b	UTSW	5	8,875,614 (GRCm39)	missense	probably benign	0.00
R9389:Abcb1b	UTSW	5	8,875,614 (GRCm39)	missense	probably benign	0.00
R9616:Abcb1b	UTSW	5	8,862,779 (GRCm39)	missense	probably benign	0.02
R9694:Abcb1b	UTSW	5	8,899,573 (GRCm39)	missense	probably damaging	0.99
X0025:Abcb1b	UTSW	5	8,874,515 (GRCm39)	missense	possibly damaging	0.91
X0061:Abcb1b	UTSW	5	8,914,269 (GRCm39)	splice site	probably null
Z1176:Abcb1b	UTSW	5	8,877,441 (GRCm39)	missense	probably benign
Z1177:Abcb1b	UTSW	5	8,887,596 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGACATAGTAGATAAATCCCAGGTC -3'
(R):5'- AGGCTTCTCATCTTGATGGAG -3'

Sequencing Primer
(F):5'- CCAGGTCTGGTTATGGAGGG -3'
(R):5'- GATGGAGTTACCTTTAACAGCCC -3'

Posted On

2019-10-17