Mutagenetix > Incidental Mutation

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 member 1B

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

8848147-8916314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8903607 bp (GRCm39)

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]

AlphaFold

P06795

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: 29,906,768 (GRCm39)		probably benign	Het
Ankrd42	T	A	7: 92,241,066 (GRCm39)	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766 (GRCm39)	F592I	probably damaging	Het
Arhgef28	A	G	13: 98,088,071 (GRCm39)		probably null	Het
Boc	A	G	16: 44,313,184 (GRCm39)	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,545,916 (GRCm39)	V96E	probably benign	Het
Cep162	C	T	9: 87,107,839 (GRCm39)	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,085,178 (GRCm39)	N372S	probably benign	Het
Dnah7a	G	A	1: 53,458,766 (GRCm39)	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,166,918 (GRCm39)	Q57R	probably benign	Het
Fsip2l	T	A	X: 47,961,825 (GRCm39)	Q296L	possibly damaging	Het
G3bp2	A	G	5: 92,216,367 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,678,660 (GRCm39)	T487I	probably benign	Het
Kpna7	A	T	5: 144,933,847 (GRCm39)	I282N	probably damaging	Het
Lif	A	T	11: 4,219,201 (GRCm39)	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,361,134 (GRCm39)	D556E	possibly damaging	Het
Myom2	G	T	8: 15,161,844 (GRCm39)	E954*	probably null	Het
Nr6a1	A	T	2: 38,632,948 (GRCm39)	I171N	probably damaging	Het
Nup210	C	A	6: 90,992,832 (GRCm39)	R1059L	probably benign	Het
Or11g27	A	G	14: 50,770,877 (GRCm39)	T3A	probably benign	Het
Or2ag16	A	G	7: 106,351,980 (GRCm39)	I205T	probably benign	Het
Or2w25	G	A	11: 59,504,629 (GRCm39)	V280M	probably damaging	Het
Or5ak4	A	T	2: 85,161,864 (GRCm39)	I126N	probably damaging	Het
Or5aq6	A	T	2: 86,922,913 (GRCm39)	V276E	probably damaging	Het
Ostm1	T	C	10: 42,574,213 (GRCm39)	V302A	probably damaging	Het
Oxct1	A	G	15: 4,130,671 (GRCm39)	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,152,758 (GRCm39)	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,626,995 (GRCm39)	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,456,272 (GRCm39)	V636G	possibly damaging	Het
Spata18	T	A	5: 73,828,591 (GRCm39)	L270Q	probably damaging	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,556,646 (GRCm39)	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,294,896 (GRCm39)	V406M	probably benign	Het
Trpc5	T	A	X: 143,165,724 (GRCm39)	M900L	probably benign	Het
Ttc9c	T	C	19: 8,793,344 (GRCm39)	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,491,007 (GRCm39)	E275G	probably 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
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
R7495:Abcb1b	UTSW	5	8,915,871 (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

Posted On

2016-08-02