Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02793:Abcb11'

359838

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

IGL02793

Quality Score

Status

Chromosome

Chromosomal Location

69068626-69172960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69122293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 397 (I397V)

Ref Sequence

ENSEMBL: ENSMUSP00000137017 (fasta)

Gene Model

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

AlphaFold

Q9QY30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102709
AA Change: I397V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: I397V

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

possibly damaging
Transcript: ENSMUST00000102710
AA Change: I397V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: I397V

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

possibly damaging
Transcript: ENSMUST00000180142
AA Change: I397V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: I397V

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

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. 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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bco2	A	T	9: 50,455,834 (GRCm39)	V173E	probably damaging	Het
Bdnf	T	C	2: 109,554,196 (GRCm39)	V150A	probably damaging	Het
Cdh15	T	A	8: 123,587,721 (GRCm39)	V215E	probably damaging	Het
Col6a2	A	T	10: 76,432,144 (GRCm39)	I1003N	possibly damaging	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dnajb13	C	T	7: 100,156,648 (GRCm39)	D143N	probably damaging	Het
Fabp3-ps1	T	A	10: 86,567,943 (GRCm39)		probably benign	Het
Gid4	G	A	11: 60,323,256 (GRCm39)	R116Q	probably benign	Het
Hectd2	A	G	19: 36,564,821 (GRCm39)	E34G	probably damaging	Het
Hyal6	A	T	6: 24,734,378 (GRCm39)	K104*	probably null	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kdm3b	A	G	18: 34,962,072 (GRCm39)	M1499V	probably damaging	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Lrrc2	T	C	9: 110,808,695 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,164,321 (GRCm39)	I328V	probably benign	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Ndrg3	A	G	2: 156,791,952 (GRCm39)		probably null	Het
Ndufa10	A	C	1: 92,397,639 (GRCm39)	Y136D	probably damaging	Het
Or10ak9	A	T	4: 118,726,794 (GRCm39)	D271V	probably damaging	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8g34	A	G	9: 39,372,802 (GRCm39)	E22G	probably benign	Het
Rab18	T	C	18: 6,788,474 (GRCm39)		probably benign	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Rrp12	A	G	19: 41,860,005 (GRCm39)	L1025P	probably damaging	Het
Rtca	A	G	3: 116,286,726 (GRCm39)	F302S	probably damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,464,828 (GRCm39)		probably benign	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Sval2	A	C	6: 41,838,795 (GRCm39)	Y11S	probably benign	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Tlr4	A	C	4: 66,757,681 (GRCm39)	H158P	probably damaging	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het
Xdh	T	C	17: 74,207,576 (GRCm39)	E927G	probably damaging	Het
Yap1	T	C	9: 7,973,907 (GRCm39)	N178S	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
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
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

Posted On

2015-12-18