Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Abcb11'

404231

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

042884-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R5301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69068626-69172960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69117191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 486 (I486V)

Ref Sequence

ENSEMBL: ENSMUSP00000137017 (fasta)

Gene Model

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

AlphaFold

Q9QY30

Predicted Effect

probably damaging
Transcript: ENSMUST00000102709
AA Change: I486V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: I486V

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 damaging
Transcript: ENSMUST00000102710
AA Change: I486V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: I486V

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 damaging
Transcript: ENSMUST00000180142
AA Change: I486V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: I486V

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

0.2792

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	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
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
R6512:Abcb11	UTSW	2	69,112,996 (GRCm39)	missense	probably benign
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'- GGGCGTTTCCAGGCATAAATC -3'
(R):5'- GGCATCCTCATACAACAGGC -3'

Sequencing Primer
(F):5'- GCGTTTCCAGGCATAAATCTAGAGC -3'
(R):5'- GCACAGTTCCATGGAAATTGC -3'

Posted On

2016-07-22