Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:Abcb1b'

412783

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Genbank: NM_011075; MGI: 97568

Is this an essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

8798147-8866315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8853607 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1086 (D1086G)

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009058
AA Change: D1086G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: D1086G

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

noncoding transcript
Transcript: ENSMUST00000196048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197961

Predicted Effect

unknown
Transcript: ENSMUST00000198650
AA Change: D67G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199994

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	T	C	6: 29,906,769		probably benign	Het
Ankrd42	T	A	7: 92,591,858	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766	F592I	probably damaging	Het
Arhgef28	A	G	13: 97,951,563		probably null	Het
Boc	A	G	16: 44,492,821	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,896,708	V96E	probably benign	Het
Cep162	C	T	9: 87,225,786	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,157,448	N372S	probably benign	Het
Dnah7a	G	A	1: 53,419,607	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,276,092	Q57R	probably benign	Het
G3bp2	A	G	5: 92,068,508		probably benign	Het
Gm595	T	A	X: 48,872,948	Q296L	possibly damaging	Het
Hmcn1	G	A	1: 150,802,909	T487I	probably benign	Het
Kpna7	A	T	5: 144,997,037	I282N	probably damaging	Het
Lif	A	T	11: 4,269,201	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,471,122	D556E	possibly damaging	Het
Myom2	G	T	8: 15,111,844	E954*	probably null	Het
Nr6a1	A	T	2: 38,742,936	I171N	probably damaging	Het
Nup210	C	A	6: 91,015,850	R1059L	probably benign	Het
Olfr1109	A	T	2: 87,092,569	V276E	probably damaging	Het
Olfr225	G	A	11: 59,613,803	V280M	probably damaging	Het
Olfr698	A	G	7: 106,752,773	I205T	probably benign	Het
Olfr743	A	G	14: 50,533,420	T3A	probably benign	Het
Olfr987	A	T	2: 85,331,520	I126N	probably damaging	Het
Ostm1	T	C	10: 42,698,217	V302A	probably damaging	Het
Oxct1	A	G	15: 4,101,189	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,268,555	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,977,571	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,584,423	V636G	possibly damaging	Het
Spata18	T	A	5: 73,671,248	L270Q	probably damaging	Het
Stard9	G	A	2: 120,705,802	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,628,909	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,459,034	V406M	probably benign	Het
Trpc5	T	A	X: 144,382,728	M900L	probably benign	Het
Ttc9c	T	C	19: 8,815,980	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,757,080	E275G	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
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
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

Posted On

2016-08-02