Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02157:Abcb1b'

282289

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 #

IGL02157

Quality Score

Status

Chromosome

Chromosomal Location

8848147-8916314 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8855487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143766 (fasta)

Gene Model

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

AlphaFold

P06795

Predicted Effect

probably benign
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: 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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	A	T	9: 14,483,011 (GRCm39)		probably benign	Het
Amph	A	T	13: 19,288,401 (GRCm39)	T297S	possibly damaging	Het
Arhgap31	A	G	16: 38,444,263 (GRCm39)	V198A	probably damaging	Het
Bop1	T	C	15: 76,339,772 (GRCm39)	D216G	possibly damaging	Het
Cdh13	T	C	8: 119,232,410 (GRCm39)	I38T	possibly damaging	Het
Clmn	T	C	12: 104,748,177 (GRCm39)	T457A	probably benign	Het
Clstn2	A	C	9: 97,423,928 (GRCm39)	M279R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fam83h	A	T	15: 75,876,904 (GRCm39)	V208E	probably damaging	Het
Fer	A	G	17: 64,445,894 (GRCm39)	N785S	probably benign	Het
Fnip1	T	C	11: 54,378,589 (GRCm39)	L225P	probably damaging	Het
Gbp11	C	T	5: 105,475,374 (GRCm39)	V325M	possibly damaging	Het
Glis1	A	G	4: 107,484,758 (GRCm39)	T418A	probably benign	Het
Hook2	C	T	8: 85,727,779 (GRCm39)		probably benign	Het
Hoxa6	C	A	6: 52,185,171 (GRCm39)	C145F	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mbd5	T	C	2: 49,168,987 (GRCm39)	V1156A	probably benign	Het
Mon2	G	A	10: 122,849,377 (GRCm39)	P1308S	probably damaging	Het
Mta2	T	A	19: 8,924,613 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,219,385 (GRCm39)	L867*	probably null	Het
Oca2	G	A	7: 55,974,545 (GRCm39)		probably null	Het
Or13a22	T	A	7: 140,072,847 (GRCm39)	C99S	probably damaging	Het
Or6c88	A	G	10: 129,407,019 (GRCm39)	E165G	probably damaging	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Plekhh2	A	G	17: 84,874,370 (GRCm39)		probably benign	Het
Pramel22	A	T	4: 143,380,947 (GRCm39)	C359S	probably damaging	Het
Rhbdd3	T	C	11: 5,055,424 (GRCm39)		probably benign	Het
Timeless	T	A	10: 128,078,255 (GRCm39)	V255E	probably benign	Het
Tmt1b	T	G	10: 128,796,486 (GRCm39)	T108P	possibly damaging	Het
Trh	A	T	6: 92,219,948 (GRCm39)	S123T	probably benign	Het
Ugdh	C	T	5: 65,580,035 (GRCm39)	A252T	probably damaging	Het
Zfp619	A	G	7: 39,184,288 (GRCm39)	Y106C	probably damaging	Het
Zic5	G	A	14: 122,696,924 (GRCm39)	P564S	unknown	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
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
IGL03195:Abcb1b	APN	5	8,903,607 (GRCm39)	missense	possibly damaging	0.83
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

2015-04-16