Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Abcb1b'

710478

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

Accession Numbers

Genbank: NM_011075; MGI: 97568

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8798147-8866315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8825614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 596 (V596I)

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]

AlphaFold

P06795

Predicted Effect

probably benign
Transcript: ENSMUST00000009058
AA Change: V596I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: V596I

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: ENSMUST00000199955

SMART Domains

Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970

Domain	Start	End	E-Value	Type
PDB:4M2T\|B	1	78	2e-26	PDB
Blast:AAA	33	78	2e-11	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	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
R0533:Abcb1b	UTSW	5	8864113	critical splice acceptor site	probably null
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
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'- GCACTGGATAAGGTCTGAGC -3'
(R):5'- GCTCTTTTCACGCTCCTAAGATAAC -3'

Sequencing Primer
(F):5'- CACTGGATAAGGTCTGAGCTATAC -3'
(R):5'- TTTCACGCTCCTAAGATAACCAAATC -3'

Posted On

2022-04-18