Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Abcb11'

569680

Institutional Source

Beutler Lab

Gene Symbol

Abcb11

Ensembl Gene

ENSMUSG00000027048

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 11

Synonyms

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

MMRRC Submission

045429-MU

Accession Numbers

Genbank: NM_021022; MGI: 1351619

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69238282-69342616 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69299867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 282 (D282N)

Ref Sequence

ENSEMBL: ENSMUSP00000099771 (fasta)

Gene Model

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

AlphaFold

Q9QY30

Predicted Effect

probably damaging
Transcript: ENSMUST00000102709
AA Change: D282N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: D282N

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: D282N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: D282N

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: D282N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: D282N

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384 (GRCm38)		probably null	Het
2900026A02Rik	T	C	5: 113,183,072 (GRCm38)	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971 (GRCm38)	I612F	probably damaging	Het
Ahnak	A	T	19: 9,008,165 (GRCm38)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551 (GRCm38)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698 (GRCm38)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm38)		probably null	Het
Atp1a1	T	C	3: 101,589,872 (GRCm38)	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887 (GRCm38)	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318 (GRCm38)		probably benign	Het
Casz1	T	A	4: 148,951,745 (GRCm38)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041 (GRCm38)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925 (GRCm38)	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346 (GRCm38)	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015 (GRCm38)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159 (GRCm38)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320 (GRCm38)	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144 (GRCm38)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,284,299 (GRCm38)	G398R	not run	Het
Foxa3	A	T	7: 19,014,869 (GRCm38)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm38)	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098 (GRCm38)	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168 (GRCm38)	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074 (GRCm38)	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587 (GRCm38)	Q89P		Het
Lrp6	G	T	6: 134,450,818 (GRCm38)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137 (GRCm38)		probably null	Het
Mkrn3	C	T	7: 62,419,782 (GRCm38)	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568 (GRCm38)		probably null	Het
Naip6	G	T	13: 100,316,019 (GRCm38)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834 (GRCm38)	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965 (GRCm38)	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549 (GRCm38)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628 (GRCm38)	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611 (GRCm38)	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475 (GRCm38)	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048 (GRCm38)	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900 (GRCm38)	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080 (GRCm38)	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378 (GRCm38)	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234 (GRCm38)	D190G	probably null	Het
Pald1	T	C	10: 61,323,331 (GRCm38)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028 (GRCm38)	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,278,978 (GRCm38)	M197V	probably benign	Het
Prom1	C	A	5: 44,101,653 (GRCm38)		probably benign	Het
Ptdss1	A	G	13: 66,963,362 (GRCm38)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613 (GRCm38)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656 (GRCm38)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570 (GRCm38)	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245 (GRCm38)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850 (GRCm38)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978 (GRCm38)	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189 (GRCm38)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469 (GRCm38)	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464 (GRCm38)		probably null	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,307 (GRCm38)	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368 (GRCm38)	V2478I		Het
Wsb1	A	G	11: 79,240,358 (GRCm38)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,403,300 (GRCm38)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247 (GRCm38)	V1392A	probably damaging	Het

Other mutations in Abcb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Abcb11	APN	2	69,284,681 (GRCm38)	missense	possibly damaging	0.90
IGL01407:Abcb11	APN	2	69,245,944 (GRCm38)	missense	probably damaging	1.00
IGL01583:Abcb11	APN	2	69,296,409 (GRCm38)	missense	possibly damaging	0.81
IGL01813:Abcb11	APN	2	69,287,592 (GRCm38)	splice site	probably benign
IGL01885:Abcb11	APN	2	69,287,627 (GRCm38)	missense	probably damaging	1.00
IGL01937:Abcb11	APN	2	69,287,612 (GRCm38)	missense	probably damaging	1.00
IGL02058:Abcb11	APN	2	69,243,498 (GRCm38)	missense	probably damaging	0.98
IGL02117:Abcb11	APN	2	69,323,825 (GRCm38)	splice site	probably benign
IGL02119:Abcb11	APN	2	69,328,000 (GRCm38)	critical splice acceptor site	probably null
IGL02120:Abcb11	APN	2	69,257,310 (GRCm38)	missense	probably damaging	1.00
IGL02158:Abcb11	APN	2	69,299,925 (GRCm38)	missense	probably damaging	0.96
IGL02212:Abcb11	APN	2	69,248,889 (GRCm38)	missense	probably damaging	0.97
IGL02306:Abcb11	APN	2	69,265,457 (GRCm38)	nonsense	probably null
IGL02505:Abcb11	APN	2	69,245,761 (GRCm38)	missense	probably damaging	1.00
IGL02538:Abcb11	APN	2	69,306,605 (GRCm38)	missense	possibly damaging	0.67
IGL02793:Abcb11	APN	2	69,291,949 (GRCm38)	missense	possibly damaging	0.90
IGL02863:Abcb11	APN	2	69,284,682 (GRCm38)	missense	probably damaging	0.99
IGL02875:Abcb11	APN	2	69,291,949 (GRCm38)	missense	possibly damaging	0.90
IGL03164:Abcb11	APN	2	69,291,999 (GRCm38)	nonsense	probably null
IGL03181:Abcb11	APN	2	69,328,008 (GRCm38)	intron	probably benign
3-1:Abcb11	UTSW	2	69,327,993 (GRCm38)	missense	probably benign	0.00
FR4737:Abcb11	UTSW	2	69,243,518 (GRCm38)	missense	probably damaging	0.97
R0031:Abcb11	UTSW	2	69,285,308 (GRCm38)	missense	probably damaging	1.00
R0398:Abcb11	UTSW	2	69,286,666 (GRCm38)	missense	probably null	0.82
R0413:Abcb11	UTSW	2	69,328,011 (GRCm38)	intron	probably benign
R0437:Abcb11	UTSW	2	69,257,295 (GRCm38)	missense	probably damaging	1.00
R0496:Abcb11	UTSW	2	69,277,884 (GRCm38)	splice site	probably benign
R0646:Abcb11	UTSW	2	69,285,283 (GRCm38)	missense	probably damaging	1.00
R0669:Abcb11	UTSW	2	69,329,318 (GRCm38)	missense	probably benign	0.15
R0856:Abcb11	UTSW	2	69,323,918 (GRCm38)	missense	probably benign
R1061:Abcb11	UTSW	2	69,277,809 (GRCm38)	missense	probably benign	0.00
R1460:Abcb11	UTSW	2	69,257,374 (GRCm38)	splice site	probably benign
R1714:Abcb11	UTSW	2	69,306,581 (GRCm38)	missense	probably damaging	0.99
R1739:Abcb11	UTSW	2	69,261,566 (GRCm38)	missense	probably damaging	1.00
R1856:Abcb11	UTSW	2	69,245,923 (GRCm38)	missense	probably damaging	1.00
R1994:Abcb11	UTSW	2	69,282,670 (GRCm38)	splice site	probably null
R2086:Abcb11	UTSW	2	69,259,476 (GRCm38)	splice site	probably benign
R2133:Abcb11	UTSW	2	69,323,883 (GRCm38)	missense	possibly damaging	0.65
R2516:Abcb11	UTSW	2	69,329,329 (GRCm38)	missense	possibly damaging	0.88
R2930:Abcb11	UTSW	2	69,257,358 (GRCm38)	missense	probably damaging	0.96
R3771:Abcb11	UTSW	2	69,329,376 (GRCm38)	splice site	probably benign
R3772:Abcb11	UTSW	2	69,329,376 (GRCm38)	splice site	probably benign
R3979:Abcb11	UTSW	2	69,323,976 (GRCm38)	missense	probably benign	0.11
R4227:Abcb11	UTSW	2	69,284,776 (GRCm38)	missense	probably damaging	1.00
R4255:Abcb11	UTSW	2	69,306,605 (GRCm38)	missense	probably benign	0.03
R4614:Abcb11	UTSW	2	69,284,681 (GRCm38)	missense	possibly damaging	0.90
R4647:Abcb11	UTSW	2	69,285,271 (GRCm38)	missense	probably damaging	1.00
R4719:Abcb11	UTSW	2	69,259,627 (GRCm38)	missense	probably damaging	1.00
R4734:Abcb11	UTSW	2	69,323,962 (GRCm38)	missense	possibly damaging	0.73
R4765:Abcb11	UTSW	2	69,245,867 (GRCm38)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,245,905 (GRCm38)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,245,905 (GRCm38)	missense	probably damaging	1.00
R4870:Abcb11	UTSW	2	69,239,196 (GRCm38)	missense	probably damaging	0.99
R4988:Abcb11	UTSW	2	69,323,892 (GRCm38)	missense	probably benign	0.12
R5028:Abcb11	UTSW	2	69,274,012 (GRCm38)	missense	probably damaging	1.00
R5048:Abcb11	UTSW	2	69,308,506 (GRCm38)	missense	probably benign	0.06
R5177:Abcb11	UTSW	2	69,285,295 (GRCm38)	missense	probably damaging	1.00
R5301:Abcb11	UTSW	2	69,286,847 (GRCm38)	missense	probably damaging	0.98
R5789:Abcb11	UTSW	2	69,245,764 (GRCm38)	missense	probably damaging	1.00
R5892:Abcb11	UTSW	2	69,261,500 (GRCm38)	missense	probably damaging	0.99
R6003:Abcb11	UTSW	2	69,243,467 (GRCm38)	missense	probably benign	0.43
R6252:Abcb11	UTSW	2	69,291,961 (GRCm38)	missense	probably benign	0.10
R6389:Abcb11	UTSW	2	69,323,894 (GRCm38)	missense	probably damaging	1.00
R6512:Abcb11	UTSW	2	69,282,652 (GRCm38)	missense	probably benign
R6590:Abcb11	UTSW	2	69,284,718 (GRCm38)	missense	probably damaging	1.00
R6690:Abcb11	UTSW	2	69,284,718 (GRCm38)	missense	probably damaging	1.00
R6732:Abcb11	UTSW	2	69,286,846 (GRCm38)	missense	probably damaging	1.00
R6870:Abcb11	UTSW	2	69,285,298 (GRCm38)	missense	possibly damaging	0.91
R7028:Abcb11	UTSW	2	69,265,675 (GRCm38)	missense	probably benign
R7223:Abcb11	UTSW	2	69,274,143 (GRCm38)	missense	probably benign
R7323:Abcb11	UTSW	2	69,287,635 (GRCm38)	missense	probably damaging	1.00
R7337:Abcb11	UTSW	2	69,245,769 (GRCm38)	missense	probably damaging	1.00
R7340:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7341:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7343:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7366:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7393:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7394:Abcb11	UTSW	2	69,299,867 (GRCm38)	missense	probably damaging	0.99
R7405:Abcb11	UTSW	2	69,287,619 (GRCm38)	missense	probably damaging	1.00
R7411:Abcb11	UTSW	2	69,303,936 (GRCm38)	critical splice donor site	probably null
R7488:Abcb11	UTSW	2	69,277,802 (GRCm38)	missense	probably benign
R7544:Abcb11	UTSW	2	69,265,486 (GRCm38)	missense	probably benign	0.05
R7660:Abcb11	UTSW	2	69,287,594 (GRCm38)	splice site	probably null
R7754:Abcb11	UTSW	2	69,286,818 (GRCm38)	missense	probably damaging	1.00
R7771:Abcb11	UTSW	2	69,239,191 (GRCm38)	missense	probably damaging	0.99
R7794:Abcb11	UTSW	2	69,286,678 (GRCm38)	missense	possibly damaging	0.62
R7834:Abcb11	UTSW	2	69,284,724 (GRCm38)	missense	probably damaging	1.00
R7897:Abcb11	UTSW	2	69,323,873 (GRCm38)	small deletion	probably benign
R7897:Abcb11	UTSW	2	69,323,872 (GRCm38)	frame shift	probably null
R7937:Abcb11	UTSW	2	69,323,873 (GRCm38)	small deletion	probably benign
R8004:Abcb11	UTSW	2	69,257,210 (GRCm38)	missense	possibly damaging	0.68
R8089:Abcb11	UTSW	2	69,274,039 (GRCm38)	missense	probably benign	0.09
R8279:Abcb11	UTSW	2	69,239,205 (GRCm38)	missense	probably benign	0.05
R8426:Abcb11	UTSW	2	69,325,262 (GRCm38)	missense	probably benign
R8441:Abcb11	UTSW	2	69,257,230 (GRCm38)	missense	possibly damaging	0.93
R8460:Abcb11	UTSW	2	69,324,037 (GRCm38)	missense	possibly damaging	0.70
R8462:Abcb11	UTSW	2	69,274,155 (GRCm38)	missense	probably benign
R8532:Abcb11	UTSW	2	69,259,691 (GRCm38)	missense	possibly damaging	0.69
R8534:Abcb11	UTSW	2	69,323,846 (GRCm38)	missense	possibly damaging	0.89
R8711:Abcb11	UTSW	2	69,265,512 (GRCm38)	missense	probably damaging	1.00
R8746:Abcb11	UTSW	2	69,257,410 (GRCm38)	intron	probably benign
R8964:Abcb11	UTSW	2	69,286,717 (GRCm38)	missense	possibly damaging	0.52
R8990:Abcb11	UTSW	2	69,274,150 (GRCm38)	missense
R9081:Abcb11	UTSW	2	69,292,044 (GRCm38)	missense	possibly damaging	0.59
R9093:Abcb11	UTSW	2	69,239,169 (GRCm38)	missense	probably damaging	0.97
R9228:Abcb11	UTSW	2	69,308,465 (GRCm38)	nonsense	probably null
R9294:Abcb11	UTSW	2	69,265,496 (GRCm38)	missense	possibly damaging	0.89
X0058:Abcb11	UTSW	2	69,289,443 (GRCm38)	missense	probably benign	0.12
X0062:Abcb11	UTSW	2	69,245,906 (GRCm38)	missense	probably damaging	1.00
X0065:Abcb11	UTSW	2	69,299,866 (GRCm38)	missense	probably damaging	0.99
Z1176:Abcb11	UTSW	2	69,291,981 (GRCm38)	missense	probably damaging	1.00
Z1177:Abcb11	UTSW	2	69,329,269 (GRCm38)	critical splice donor site	probably null
Z1177:Abcb11	UTSW	2	69,306,529 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCATCAACATTTGCCAAT -3'
(R):5'- CACCCATCTTGAACCAGCTT -3'

Sequencing Primer
(F):5'- CCTGTTGCTCTAAATGACAGTGGATC -3'
(R):5'- ACCCATCTTGAACCAGCTTTTTCTC -3'

Posted On

2019-09-13