Mutagenetix > Incidental Mutation

Incidental Mutation 'R6512:Abcb11'

519939

Institutional Source

Beutler Lab

Gene Symbol

Abcb11

Ensembl Gene

ENSMUSG00000027048

Gene Name

ATP-binding cassette, sub-family B member 11

Synonyms

sister of P-glycoprotein, ABC16, PFIC2, Bsep, PGY4, Lith1

MMRRC Submission

045017-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R6512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69068626-69172960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69112996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 674 (T674A)

Ref Sequence

ENSEMBL: ENSMUSP00000137017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102709] [ENSMUST00000102710] [ENSMUST00000180142]

AlphaFold

Q9QY30

Predicted Effect

probably benign
Transcript: ENSMUST00000102709
AA Change: T674A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: T674A

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	373	1.3e-65	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1031	2.7e-55	PFAM
AAA	1105	1299	1.9e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102710
AA Change: T674A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: T674A

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	371	1.7e-72	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1029	3.2e-59	PFAM
AAA	1105	1299	1.9e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180142
AA Change: T674A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: T674A

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	371	1.4e-72	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1029	2.5e-59	PFAM
AAA	1105	1299	1.9e-17	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (39/39)

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. The protein encoded by this gene is the major canalicular bile salt transporter in humans and mice. Mutations in the human gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,347,672 (GRCm39)	S211P	possibly damaging	Het
Acad11	G	T	9: 103,972,758 (GRCm39)	E484*	probably null	Het
Ankhd1	A	T	18: 36,724,509 (GRCm39)	D389V	probably damaging	Het
Asic4	T	A	1: 75,449,687 (GRCm39)	L439*	probably null	Het
Atp13a2	A	G	4: 140,730,529 (GRCm39)	T808A	probably damaging	Het
Capn13	C	A	17: 73,689,985 (GRCm39)	V9L	probably benign	Het
Chst11	A	G	10: 83,027,302 (GRCm39)	Y243C	probably damaging	Het
Ctdp1	A	T	18: 80,494,478 (GRCm39)	W308R	probably damaging	Het
Dnttip2	A	G	3: 122,069,172 (GRCm39)	E129G	possibly damaging	Het
Dock5	A	G	14: 68,062,097 (GRCm39)	S424P	possibly damaging	Het
Ebf1	C	T	11: 44,883,168 (GRCm39)	H469Y	probably damaging	Het
Efhc1	A	T	1: 21,030,573 (GRCm39)	N169Y	probably damaging	Het
Elmo1	T	C	13: 20,557,331 (GRCm39)	L424P	probably damaging	Het
Ighv1-59	A	G	12: 115,299,003 (GRCm39)	V16A	probably damaging	Het
Kcnc1	T	G	7: 46,076,821 (GRCm39)	C208G	probably damaging	Het
Kif13b	A	T	14: 64,982,323 (GRCm39)		probably null	Het
Lilra6	T	A	7: 3,917,387 (GRCm39)	N203Y	probably benign	Het
Mrtfa	T	C	15: 80,897,917 (GRCm39)	T787A	probably benign	Het
Myh8	A	T	11: 67,180,488 (GRCm39)	K575*	probably null	Het
Nedd1	C	T	10: 92,527,737 (GRCm39)	A486T	probably benign	Het
Or2aj5	A	T	16: 19,425,109 (GRCm39)	L103H	probably damaging	Het
Phrf1	T	C	7: 140,840,309 (GRCm39)	I1168T	possibly damaging	Het
Pla2g12a	T	A	3: 129,682,606 (GRCm39)	H59Q	probably benign	Het
Ralbp1	A	G	17: 66,168,270 (GRCm39)	V345A	probably damaging	Het
Ryr3	C	T	2: 112,697,723 (GRCm39)	V894M	possibly damaging	Het
Sec24b	T	A	3: 129,834,946 (GRCm39)	Y84F	probably damaging	Het
Slc22a26	T	C	19: 7,779,865 (GRCm39)		probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Spats1	C	T	17: 45,763,599 (GRCm39)		probably null	Het
Tbk1	T	A	10: 121,414,526 (GRCm39)	N63Y	probably damaging	Het
Tbl1xr1	C	T	3: 22,194,698 (GRCm39)		probably benign	Het
Top2b	T	A	14: 16,409,854 (GRCm38)	D840E	possibly damaging	Het
Trpc3	T	A	3: 36,716,907 (GRCm39)	Y377F	possibly damaging	Het
Uba6	C	T	5: 86,272,262 (GRCm39)	R778K	probably benign	Het
Vmn2r101	A	T	17: 19,809,146 (GRCm39)	I92F	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r70	G	T	7: 85,215,305 (GRCm39)	F76L	probably benign	Het
Vwa3b	A	G	1: 37,102,723 (GRCm39)		probably benign	Het
Zfp407	T	A	18: 84,578,474 (GRCm39)	T880S	probably damaging	Het
Zfp64	C	A	2: 168,735,997 (GRCm39)	G560V	probably benign	Het

Other mutations in Abcb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Abcb11	APN	2	69,115,025 (GRCm39)	missense	possibly damaging	0.90
IGL01407:Abcb11	APN	2	69,076,288 (GRCm39)	missense	probably damaging	1.00
IGL01583:Abcb11	APN	2	69,126,753 (GRCm39)	missense	possibly damaging	0.81
IGL01813:Abcb11	APN	2	69,117,936 (GRCm39)	splice site	probably benign
IGL01885:Abcb11	APN	2	69,117,971 (GRCm39)	missense	probably damaging	1.00
IGL01937:Abcb11	APN	2	69,117,956 (GRCm39)	missense	probably damaging	1.00
IGL02058:Abcb11	APN	2	69,073,842 (GRCm39)	missense	probably damaging	0.98
IGL02117:Abcb11	APN	2	69,154,169 (GRCm39)	splice site	probably benign
IGL02119:Abcb11	APN	2	69,158,344 (GRCm39)	critical splice acceptor site	probably null
IGL02120:Abcb11	APN	2	69,087,654 (GRCm39)	missense	probably damaging	1.00
IGL02158:Abcb11	APN	2	69,130,269 (GRCm39)	missense	probably damaging	0.96
IGL02212:Abcb11	APN	2	69,079,233 (GRCm39)	missense	probably damaging	0.97
IGL02306:Abcb11	APN	2	69,095,801 (GRCm39)	nonsense	probably null
IGL02505:Abcb11	APN	2	69,076,105 (GRCm39)	missense	probably damaging	1.00
IGL02538:Abcb11	APN	2	69,136,949 (GRCm39)	missense	possibly damaging	0.67
IGL02793:Abcb11	APN	2	69,122,293 (GRCm39)	missense	possibly damaging	0.90
IGL02863:Abcb11	APN	2	69,115,026 (GRCm39)	missense	probably damaging	0.99
IGL02875:Abcb11	APN	2	69,122,293 (GRCm39)	missense	possibly damaging	0.90
IGL03164:Abcb11	APN	2	69,122,343 (GRCm39)	nonsense	probably null
IGL03181:Abcb11	APN	2	69,158,352 (GRCm39)	intron	probably benign
3-1:Abcb11	UTSW	2	69,158,337 (GRCm39)	missense	probably benign	0.00
FR4737:Abcb11	UTSW	2	69,073,862 (GRCm39)	missense	probably damaging	0.97
R0031:Abcb11	UTSW	2	69,115,652 (GRCm39)	missense	probably damaging	1.00
R0398:Abcb11	UTSW	2	69,117,010 (GRCm39)	missense	probably null	0.82
R0413:Abcb11	UTSW	2	69,158,355 (GRCm39)	intron	probably benign
R0437:Abcb11	UTSW	2	69,087,639 (GRCm39)	missense	probably damaging	1.00
R0496:Abcb11	UTSW	2	69,108,228 (GRCm39)	splice site	probably benign
R0646:Abcb11	UTSW	2	69,115,627 (GRCm39)	missense	probably damaging	1.00
R0669:Abcb11	UTSW	2	69,159,662 (GRCm39)	missense	probably benign	0.15
R0856:Abcb11	UTSW	2	69,154,262 (GRCm39)	missense	probably benign
R1061:Abcb11	UTSW	2	69,108,153 (GRCm39)	missense	probably benign	0.00
R1460:Abcb11	UTSW	2	69,087,718 (GRCm39)	splice site	probably benign
R1714:Abcb11	UTSW	2	69,136,925 (GRCm39)	missense	probably damaging	0.99
R1739:Abcb11	UTSW	2	69,091,910 (GRCm39)	missense	probably damaging	1.00
R1856:Abcb11	UTSW	2	69,076,267 (GRCm39)	missense	probably damaging	1.00
R1994:Abcb11	UTSW	2	69,113,014 (GRCm39)	splice site	probably null
R2086:Abcb11	UTSW	2	69,089,820 (GRCm39)	splice site	probably benign
R2133:Abcb11	UTSW	2	69,154,227 (GRCm39)	missense	possibly damaging	0.65
R2516:Abcb11	UTSW	2	69,159,673 (GRCm39)	missense	possibly damaging	0.88
R2930:Abcb11	UTSW	2	69,087,702 (GRCm39)	missense	probably damaging	0.96
R3771:Abcb11	UTSW	2	69,159,720 (GRCm39)	splice site	probably benign
R3772:Abcb11	UTSW	2	69,159,720 (GRCm39)	splice site	probably benign
R3979:Abcb11	UTSW	2	69,154,320 (GRCm39)	missense	probably benign	0.11
R4227:Abcb11	UTSW	2	69,115,120 (GRCm39)	missense	probably damaging	1.00
R4255:Abcb11	UTSW	2	69,136,949 (GRCm39)	missense	probably benign	0.03
R4614:Abcb11	UTSW	2	69,115,025 (GRCm39)	missense	possibly damaging	0.90
R4647:Abcb11	UTSW	2	69,115,615 (GRCm39)	missense	probably damaging	1.00
R4719:Abcb11	UTSW	2	69,089,971 (GRCm39)	missense	probably damaging	1.00
R4734:Abcb11	UTSW	2	69,154,306 (GRCm39)	missense	possibly damaging	0.73
R4765:Abcb11	UTSW	2	69,076,211 (GRCm39)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,076,249 (GRCm39)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,076,249 (GRCm39)	missense	probably damaging	1.00
R4870:Abcb11	UTSW	2	69,069,540 (GRCm39)	missense	probably damaging	0.99
R4988:Abcb11	UTSW	2	69,154,236 (GRCm39)	missense	probably benign	0.12
R5028:Abcb11	UTSW	2	69,104,356 (GRCm39)	missense	probably damaging	1.00
R5048:Abcb11	UTSW	2	69,138,850 (GRCm39)	missense	probably benign	0.06
R5177:Abcb11	UTSW	2	69,115,639 (GRCm39)	missense	probably damaging	1.00
R5301:Abcb11	UTSW	2	69,117,191 (GRCm39)	missense	probably damaging	0.98
R5789:Abcb11	UTSW	2	69,076,108 (GRCm39)	missense	probably damaging	1.00
R5892:Abcb11	UTSW	2	69,091,844 (GRCm39)	missense	probably damaging	0.99
R6003:Abcb11	UTSW	2	69,073,811 (GRCm39)	missense	probably benign	0.43
R6252:Abcb11	UTSW	2	69,122,305 (GRCm39)	missense	probably benign	0.10
R6389:Abcb11	UTSW	2	69,154,238 (GRCm39)	missense	probably damaging	1.00
R6590:Abcb11	UTSW	2	69,115,062 (GRCm39)	missense	probably damaging	1.00
R6690:Abcb11	UTSW	2	69,115,062 (GRCm39)	missense	probably damaging	1.00
R6732:Abcb11	UTSW	2	69,117,190 (GRCm39)	missense	probably damaging	1.00
R6870:Abcb11	UTSW	2	69,115,642 (GRCm39)	missense	possibly damaging	0.91
R7028:Abcb11	UTSW	2	69,096,019 (GRCm39)	missense	probably benign
R7223:Abcb11	UTSW	2	69,104,487 (GRCm39)	missense	probably benign
R7323:Abcb11	UTSW	2	69,117,979 (GRCm39)	missense	probably damaging	1.00
R7337:Abcb11	UTSW	2	69,076,113 (GRCm39)	missense	probably damaging	1.00
R7339:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7340:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7341:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7343:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7366:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7393:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7394:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7405:Abcb11	UTSW	2	69,117,963 (GRCm39)	missense	probably damaging	1.00
R7411:Abcb11	UTSW	2	69,134,280 (GRCm39)	critical splice donor site	probably null
R7488:Abcb11	UTSW	2	69,108,146 (GRCm39)	missense	probably benign
R7544:Abcb11	UTSW	2	69,095,830 (GRCm39)	missense	probably benign	0.05
R7660:Abcb11	UTSW	2	69,117,938 (GRCm39)	splice site	probably null
R7754:Abcb11	UTSW	2	69,117,162 (GRCm39)	missense	probably damaging	1.00
R7771:Abcb11	UTSW	2	69,069,535 (GRCm39)	missense	probably damaging	0.99
R7794:Abcb11	UTSW	2	69,117,022 (GRCm39)	missense	possibly damaging	0.62
R7834:Abcb11	UTSW	2	69,115,068 (GRCm39)	missense	probably damaging	1.00
R7897:Abcb11	UTSW	2	69,154,217 (GRCm39)	small deletion	probably benign
R7897:Abcb11	UTSW	2	69,154,216 (GRCm39)	frame shift	probably null
R7937:Abcb11	UTSW	2	69,154,217 (GRCm39)	small deletion	probably benign
R8004:Abcb11	UTSW	2	69,087,554 (GRCm39)	missense	possibly damaging	0.68
R8089:Abcb11	UTSW	2	69,104,383 (GRCm39)	missense	probably benign	0.09
R8279:Abcb11	UTSW	2	69,069,549 (GRCm39)	missense	probably benign	0.05
R8426:Abcb11	UTSW	2	69,155,606 (GRCm39)	missense	probably benign
R8441:Abcb11	UTSW	2	69,087,574 (GRCm39)	missense	possibly damaging	0.93
R8460:Abcb11	UTSW	2	69,154,381 (GRCm39)	missense	possibly damaging	0.70
R8462:Abcb11	UTSW	2	69,104,499 (GRCm39)	missense	probably benign
R8532:Abcb11	UTSW	2	69,090,035 (GRCm39)	missense	possibly damaging	0.69
R8534:Abcb11	UTSW	2	69,154,190 (GRCm39)	missense	possibly damaging	0.89
R8711:Abcb11	UTSW	2	69,095,856 (GRCm39)	missense	probably damaging	1.00
R8746:Abcb11	UTSW	2	69,087,754 (GRCm39)	intron	probably benign
R8964:Abcb11	UTSW	2	69,117,061 (GRCm39)	missense	possibly damaging	0.52
R8990:Abcb11	UTSW	2	69,104,494 (GRCm39)	missense
R9081:Abcb11	UTSW	2	69,122,388 (GRCm39)	missense	possibly damaging	0.59
R9093:Abcb11	UTSW	2	69,069,513 (GRCm39)	missense	probably damaging	0.97
R9228:Abcb11	UTSW	2	69,138,809 (GRCm39)	nonsense	probably null
R9294:Abcb11	UTSW	2	69,095,840 (GRCm39)	missense	possibly damaging	0.89
X0058:Abcb11	UTSW	2	69,119,787 (GRCm39)	missense	probably benign	0.12
X0062:Abcb11	UTSW	2	69,076,250 (GRCm39)	missense	probably damaging	1.00
X0065:Abcb11	UTSW	2	69,130,210 (GRCm39)	missense	probably damaging	0.99
Z1176:Abcb11	UTSW	2	69,122,325 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcb11	UTSW	2	69,159,613 (GRCm39)	critical splice donor site	probably null
Z1177:Abcb11	UTSW	2	69,136,873 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGTCTGCCATAGGGTTTC -3'
(R):5'- CAAGTCAATCTTACTGAGTATTTTGGG -3'

Sequencing Primer
(F):5'- CCTTCTTGGACCTGAGATATTGC -3'
(R):5'- ATCTTACTGAGTATTTTGGGGTTTTG -3'

Posted On

2018-06-06