Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Abcb1b'

276248

Institutional Source

Beutler Lab

Gene Symbol

Abcb1b

Ensembl Gene

ENSMUSG00000028970

Gene Name

ATP-binding cassette, sub-family B member 1B

Synonyms

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

MMRRC Submission

040786-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R3858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8848147-8916314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8863581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 179 (S179T)

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: S179T

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: S179T

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,251,704 (GRCm39)		probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Cd2ap	G	A	17: 43,127,463 (GRCm39)	Q377*	probably null	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Efhb	A	G	17: 53,769,808 (GRCm39)	L167S	possibly damaging	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irs4	T	C	X: 140,507,059 (GRCm39)	E379G	probably damaging	Het
Kcnmb2	T	C	3: 32,252,450 (GRCm39)	V217A	probably damaging	Het
Megf10	T	C	18: 57,408,907 (GRCm39)		probably benign	Het
Mib1	T	A	18: 10,798,409 (GRCm39)	C757S	possibly damaging	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Or12d13	A	T	17: 37,648,117 (GRCm39)	L2*	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Pirb	T	C	7: 3,720,662 (GRCm39)	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,025,301 (GRCm39)	S45P	probably benign	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261 (GRCm39)	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Sis	A	G	3: 72,835,985 (GRCm39)	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tor3a	T	A	1: 156,497,124 (GRCm39)	L140F	probably damaging	Het
Vcf2	T	C	X: 149,203,357 (GRCm39)	Q39R	probably benign	Het
Vmn2r86	A	G	10: 130,291,594 (GRCm39)	M57T	probably benign	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAAACAATCTGTCATGTGG -3'
(R):5'- AAGACCTTCCTCGGAGTCTG -3'

Sequencing Primer
(F):5'- GTCAGACTCAGTGATGCAATA -3'
(R):5'- GGACGGCTCTGCAATGTG -3'

Posted On

2015-04-06