Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Abcb1b'

403470

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

042789-MU

Accession Numbers

Genbank: NM_011075; MGI: 97568

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8798147-8866315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8813705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 220 (V220A)

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000196580] [ENSMUST00000199955]

AlphaFold

P06795

Predicted Effect

probably benign
Transcript: ENSMUST00000009058
AA Change: V220A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: V220A

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: ENSMUST00000196580

SMART Domains

Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970

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

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,061,162	V84D	probably damaging	Het
Actg1	A	T	11: 120,347,754	M82K	probably damaging	Het
Ahi1	T	C	10: 20,960,076	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,401,842	T507A	probably benign	Het
Atg7	A	G	6: 114,724,949	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,340,284	I783T	probably damaging	Het
Atp9a	T	C	2: 168,674,888	I362V	probably benign	Het
BC067074	G	A	13: 113,342,413	C1497Y	probably benign	Het
Birc6	T	A	17: 74,613,470	I168K	probably damaging	Het
Brca2	T	A	5: 150,542,980	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,738,873	I199T	probably damaging	Het
Cacng5	A	G	11: 107,877,489	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,315,310	E481K	possibly damaging	Het
Ctr9	T	A	7: 111,045,458	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Fat3	T	C	9: 16,377,537	D230G	probably damaging	Het
Gramd4	G	A	15: 86,134,785		probably null	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Hoxd1	A	T	2: 74,764,351	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,439,441	S623P	probably benign	Het
Klhl20	A	G	1: 161,093,679		probably null	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,242,760	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Mgll	T	A	6: 88,766,329	C110*	probably null	Het
Mmp14	A	G	14: 54,437,663	N251D	possibly damaging	Het
Olfr393	A	T	11: 73,847,436	S230T	probably damaging	Het
Olfr552	A	G	7: 102,604,821	T156A	probably benign	Het
Olfr857	T	A	9: 19,713,289	V154E	probably benign	Het
Pfkl	T	G	10: 78,009,670	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,272,976	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,495,647	Y417*	probably null	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Sulf1	T	A	1: 12,796,874	M94K	probably benign	Het
Synrg	A	G	11: 83,982,196	T157A	probably damaging	Het
Syt1	T	C	10: 108,642,257	N102S	probably benign	Het
Tnip2	C	T	5: 34,503,805	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,252,184	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,447,163	D57G	probably benign	Het
Wnt2b	A	G	3: 104,961,345	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,150,715	D56N	probably damaging	Het
Zfp184	C	T	13: 21,950,236	L69F	probably damaging	Het
Zyx	T	C	6: 42,356,532	V464A	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
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'- CTGCTGGAAACAATCTGTCATG -3'
(R):5'- AGTGGGGCAGAGTCATCCTATC -3'

Sequencing Primer
(F):5'- AATTTATGTCAGACTCAGTGATGC -3'
(R):5'- TATCCCACTTATTGGCAAACAGAAG -3'

Posted On

2016-07-22