Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Abcb1b'

49312

Institutional Source

Beutler Lab

Gene Symbol

Abcb1b

Ensembl Gene

ENSMUSG00000028970

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 1B

Synonyms

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

MMRRC Submission

038725-MU

Accession Numbers

Genbank: NM_011075; MGI: 97568

Is this an essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8798147-8866315 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 8864113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

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

AlphaFold

P06795

Predicted Effect

probably null
Transcript: ENSMUST00000009058

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970

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

probably benign
Transcript: ENSMUST00000198650

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Abcb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Abcb1b	APN	5	8827704	missense	probably benign	0.34
IGL00979:Abcb1b	APN	5	8825293	splice site	probably benign
IGL02157:Abcb1b	APN	5	8805487	splice site	probably benign
IGL02478:Abcb1b	APN	5	8806018	missense	probably damaging	0.98
IGL03174:Abcb1b	APN	5	8827752	missense	probably benign	0.03
IGL03189:Abcb1b	APN	5	8845814	missense	probably benign
IGL03195:Abcb1b	APN	5	8853607	missense	possibly damaging	0.83
PIT4283001:Abcb1b	UTSW	5	8813693	missense	probably damaging	1.00
R0049:Abcb1b	UTSW	5	8825661	missense	probably damaging	1.00
R0166:Abcb1b	UTSW	5	8853468	missense	probably damaging	1.00
R0254:Abcb1b	UTSW	5	8827409	missense	probably benign
R0319:Abcb1b	UTSW	5	8827428	missense	probably benign	0.01
R0358:Abcb1b	UTSW	5	8821423	missense	probably benign	0.16
R0365:Abcb1b	UTSW	5	8806009	missense	probably damaging	1.00
R0408:Abcb1b	UTSW	5	8853446	missense	probably damaging	0.98
R0521:Abcb1b	UTSW	5	8864238	missense	probably damaging	1.00
R0847:Abcb1b	UTSW	5	8845764	missense	probably damaging	0.99
R1037:Abcb1b	UTSW	5	8825657	missense	probably benign	0.03
R1432:Abcb1b	UTSW	5	8837771	missense	possibly damaging	0.69
R1437:Abcb1b	UTSW	5	8821436	missense	possibly damaging	0.90
R1520:Abcb1b	UTSW	5	8814768	missense	probably damaging	1.00
R1686:Abcb1b	UTSW	5	8798782	missense	probably damaging	0.97
R1700:Abcb1b	UTSW	5	8849537	missense	probably benign	0.44
R1973:Abcb1b	UTSW	5	8812746	missense	probably benign	0.01
R1993:Abcb1b	UTSW	5	8821322	missense	possibly damaging	0.61
R2157:Abcb1b	UTSW	5	8824791	missense	probably benign	0.37
R2207:Abcb1b	UTSW	5	8824803	missense	probably benign	0.23
R2968:Abcb1b	UTSW	5	8861485	missense	probably damaging	1.00
R3858:Abcb1b	UTSW	5	8813581	missense	probably benign	0.11
R4223:Abcb1b	UTSW	5	8813722	missense	probably damaging	0.97
R4379:Abcb1b	UTSW	5	8865875	missense	probably benign	0.00
R4674:Abcb1b	UTSW	5	8810615	missense	probably benign
R4964:Abcb1b	UTSW	5	8812671	missense	probably benign	0.00
R4964:Abcb1b	UTSW	5	8861602	missense	probably damaging	1.00
R5167:Abcb1b	UTSW	5	8812656	missense	probably damaging	0.98
R5216:Abcb1b	UTSW	5	8813705	missense	probably benign	0.04
R5328:Abcb1b	UTSW	5	8837694	missense	possibly damaging	0.69
R5391:Abcb1b	UTSW	5	8805481	missense	probably null	0.00
R5399:Abcb1b	UTSW	5	8827410	missense	probably benign
R6047:Abcb1b	UTSW	5	8806066	missense	probably damaging	1.00
R6157:Abcb1b	UTSW	5	8824245	missense	possibly damaging	0.81
R6293:Abcb1b	UTSW	5	8853493	missense	probably benign	0.05
R6493:Abcb1b	UTSW	5	8824698	missense	probably damaging	1.00
R6593:Abcb1b	UTSW	5	8853491	missense	probably benign
R6799:Abcb1b	UTSW	5	8812656	missense	probably damaging	0.98
R6944:Abcb1b	UTSW	5	8813693	missense	probably damaging	1.00
R7028:Abcb1b	UTSW	5	8805441	missense	probably damaging	0.99
R7227:Abcb1b	UTSW	5	8825593	missense	probably damaging	1.00
R7495:Abcb1b	UTSW	5	8865871	missense	probably damaging	1.00
R7573:Abcb1b	UTSW	5	8828866	missense	possibly damaging	0.80
R7681:Abcb1b	UTSW	5	8849619	missense	probably benign	0.00
R7827:Abcb1b	UTSW	5	8837747	missense	probably damaging	0.96
R7860:Abcb1b	UTSW	5	8832258	missense	probably benign	0.12
R7961:Abcb1b	UTSW	5	8828870	missense	possibly damaging	0.65
R8009:Abcb1b	UTSW	5	8828870	missense	possibly damaging	0.65
R8054:Abcb1b	UTSW	5	8824272	missense	probably benign
R8226:Abcb1b	UTSW	5	8821390	missense	probably damaging	1.00
R8283:Abcb1b	UTSW	5	8806086	missense	probably damaging	1.00
R8286:Abcb1b	UTSW	5	8864119	missense	probably damaging	1.00
R8362:Abcb1b	UTSW	5	8798758	missense	probably benign	0.00
R8387:Abcb1b	UTSW	5	8824698	missense	probably damaging	1.00
R8426:Abcb1b	UTSW	5	8861632	critical splice donor site	probably null
R8495:Abcb1b	UTSW	5	8865865	missense	probably damaging	0.99
R8715:Abcb1b	UTSW	5	8812750	missense	probably benign
R8874:Abcb1b	UTSW	5	8825671	missense	possibly damaging	0.95
R9236:Abcb1b	UTSW	5	8824893	critical splice donor site	probably null
R9292:Abcb1b	UTSW	5	8812843	missense	probably benign	0.20
R9300:Abcb1b	UTSW	5	8825614	missense	probably benign	0.00
R9387:Abcb1b	UTSW	5	8825614	missense	probably benign	0.00
R9389:Abcb1b	UTSW	5	8825614	missense	probably benign	0.00
R9616:Abcb1b	UTSW	5	8812779	missense	probably benign	0.02
R9694:Abcb1b	UTSW	5	8849573	missense	probably damaging	0.99
X0025:Abcb1b	UTSW	5	8824515	missense	possibly damaging	0.91
X0061:Abcb1b	UTSW	5	8864269	splice site	probably null
Z1176:Abcb1b	UTSW	5	8827441	missense	probably benign
Z1177:Abcb1b	UTSW	5	8837596	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGGGGCAGGGGTTATTTCCTAAG -3'
(R):5'- TCAGCTATCTGGAGCTGTGTTCGC -3'

Sequencing Primer
(F):5'- TTAATCATGCAGAGGTGTCACG -3'
(R):5'- TGTTCGCTTCTAAGGCAGAG -3'

Posted On

2013-06-12