Mutagenetix > Incidental Mutation

Incidental Mutation 'R5167:Abcb1b'

470006

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

042747-MU

Accession Numbers

Essential gene?

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

Stock #

R5167 (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 8862656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 113 (Y113N)

Ref Sequence

ENSEMBL: ENSMUSP00000009058 (fasta)

Gene Model

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

AlphaFold

P06795

Predicted Effect

probably damaging
Transcript: ENSMUST00000009058
AA Change: Y113N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: Y113N

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
AA Change: N93K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970
AA Change: N93K

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
AA Change: N93K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970
AA Change: N93K

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

0.5655

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (38/39)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Calm3	T	C	7: 16,651,626 (GRCm39)	D21G	probably damaging	Het
Cldn23	C	T	8: 36,293,474 (GRCm39)	V5M	possibly damaging	Het
D630003M21Rik	A	G	2: 158,047,665 (GRCm39)	S735P	probably damaging	Het
Dscaml1	T	C	9: 45,628,730 (GRCm39)	Y1095H	probably damaging	Het
Esr2	T	C	12: 76,170,048 (GRCm39)	T427A	probably benign	Het
Fbxo28	T	C	1: 182,145,558 (GRCm39)	I177V	possibly damaging	Het
Fubp1	T	C	3: 151,926,989 (GRCm39)	L372P	possibly damaging	Het
Glis1	G	A	4: 107,491,891 (GRCm39)	G585E	probably damaging	Het
Gm7258	T	C	7: 128,197,791 (GRCm39)		noncoding transcript	Het
Hecw1	C	T	13: 14,460,242 (GRCm39)	R613Q	probably damaging	Het
Kif13b	T	C	14: 65,010,384 (GRCm39)	S1228P	probably damaging	Het
Knl1	A	G	2: 118,900,512 (GRCm39)	I738V	probably damaging	Het
Lig1	T	A	7: 13,044,983 (GRCm39)	V892D	probably damaging	Het
Lvrn	T	A	18: 47,013,814 (GRCm39)	Y499N	probably damaging	Het
Ly9	C	A	1: 171,432,773 (GRCm39)	W80L	probably damaging	Het
Lypd5	T	C	7: 24,051,889 (GRCm39)	V68A	possibly damaging	Het
Ngdn	C	T	14: 55,259,656 (GRCm39)	Q236*	probably null	Het
Nudt7	C	A	8: 114,878,567 (GRCm39)	C154*	probably null	Het
Obi1	A	G	14: 104,716,223 (GRCm39)	S717P	probably damaging	Het
Or14j10	C	A	17: 37,934,642 (GRCm39)	E295*	probably null	Het
Or4f14b	A	T	2: 111,775,447 (GRCm39)	M118K	probably damaging	Het
Or5b117	T	A	19: 13,431,741 (GRCm39)	I47F	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pcnt	G	T	10: 76,256,258 (GRCm39)	Q661K	probably damaging	Het
Plekha1	G	A	7: 130,487,179 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Rac3	A	G	11: 120,613,421 (GRCm39)	D58G	probably null	Het
Rgl2	C	T	17: 34,154,948 (GRCm39)	R203*	probably null	Het
Ryr1	T	C	7: 28,767,118 (GRCm39)	D2948G	probably damaging	Het
Serpina12	A	T	12: 104,004,179 (GRCm39)	L151Q	probably damaging	Het
Sf3a1	T	C	11: 4,127,456 (GRCm39)	V594A	possibly damaging	Het
Spdl1	G	T	11: 34,704,187 (GRCm39)	H549N	possibly damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Zfp352	A	G	4: 90,112,453 (GRCm39)	T198A	possibly 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
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
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'- CAGCTAGAAAATTGGGACCCAG -3'
(R):5'- GTTGAGCTCCCCAACATCATG -3'

Sequencing Primer
(F):5'- TTGGGACCCAGGATCTTAAGC -3'
(R):5'- TGCACATCAAACCAGCCTATCTC -3'

Posted On

2017-03-06