Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Abcb4'

54510

Institutional Source

Beutler Lab

Gene Symbol

Abcb4

Ensembl Gene

ENSMUSG00000042476

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 4

Synonyms

Pgy-2, Mdr2, Pgy2, mdr-2

MMRRC Submission

038798-MU

Accession Numbers

Ncbi RefSeq: NM_008830; MGI: 97569

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0609 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

8893717-8959231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8947376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 952 (C952S)

Ref Sequence

ENSEMBL: ENSMUSP00000003717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003717]

AlphaFold

P21440

Predicted Effect

probably damaging
Transcript: ENSMUST00000003717
AA Change: C952S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: C952S

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	54	342	2e-94	PFAM
AAA	418	610	3.97e-20	SMART
Pfam:ABC_membrane	708	982	6.3e-77	PFAM
AAA	1058	1246	4.49e-19	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

MGI Phenotype

Strain: 1857236
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,811,461		probably null	Het
Adamtsl2	A	G	2: 27,089,635	D272G	probably benign	Het
Aim2	G	A	1: 173,461,964	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,914,024	R426H	probably damaging	Het
Apoc2	A	G	7: 19,673,353	S28P	probably benign	Het
Arfgef3	G	A	10: 18,597,431	T1628I	probably benign	Het
Atp10a	G	A	7: 58,819,740		probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,121,899	D226E	probably benign	Het
Brsk2	T	C	7: 141,998,492	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554	F27Y	probably damaging	Het
Casp8	T	A	1: 58,844,792	N439K	probably benign	Het
Ccdc175	T	A	12: 72,157,507	K253N	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179	H193R	probably damaging	Het
Cdk17	T	C	10: 93,216,472	M105T	probably benign	Het
Cdon	C	A	9: 35,478,611	P854T	probably damaging	Het
Cep44	A	G	8: 56,544,152	M117T	possibly damaging	Het
Cep89	A	T	7: 35,435,530	E674D	probably damaging	Het
Cit	C	T	5: 115,873,943	A203V	probably damaging	Het
Clstn1	C	A	4: 149,629,300		probably null	Het
Col7a1	T	A	9: 108,958,147	D565E	unknown	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Cps1	T	G	1: 67,172,802	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,987,053	T372A	possibly damaging	Het
Dars	A	G	1: 128,405,381	V102A	probably benign	Het
Dhx35	C	T	2: 158,817,415	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,779	S2100P	probably benign	Het
Dst	T	C	1: 34,266,960		probably null	Het
Egflam	A	C	15: 7,253,523	L351R	possibly damaging	Het
Elp2	T	A	18: 24,626,156	D523E	probably benign	Het
Exo5	C	A	4: 120,921,684	G328V	probably damaging	Het
Fam208a	C	T	14: 27,461,750	T722I	probably benign	Het
Fut9	A	G	4: 25,620,811	M1T	probably null	Het
Galnt5	A	G	2: 58,024,625	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,567,772	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977	C353Y	probably damaging	Het
Gm13089	A	T	4: 143,698,503	D123E	probably benign	Het
Hace1	A	G	10: 45,648,869	T244A	probably damaging	Het
Hr	T	C	14: 70,559,657	I500T	probably benign	Het
Ifnl2	A	T	7: 28,509,282	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,389,824	F5L	probably benign	Het
Inhbb	A	G	1: 119,417,416	L381P	probably damaging	Het
Irx3	A	T	8: 91,801,093	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,360,145	T363I	probably benign	Het
Izumo1	A	T	7: 45,622,899	T35S	probably benign	Het
Kank4	A	G	4: 98,777,105	S651P	probably damaging	Het
Kit	T	C	5: 75,610,879	V232A	probably benign	Het
Klhl11	T	C	11: 100,463,714	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,689	N36K	probably damaging	Het
Lrrk1	T	C	7: 66,266,615		probably null	Het
Mamdc4	G	T	2: 25,564,193	Q1042K	probably benign	Het
Mical2	A	G	7: 112,321,440		probably null	Het
Ms4a3	C	A	19: 11,631,361	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,333,513	V427A	probably benign	Het
Myo3a	A	C	2: 22,396,299	E626D	possibly damaging	Het
Nckap5	A	T	1: 126,027,288	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,249	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,208,461	Y753H	probably damaging	Het
Nynrin	T	C	14: 55,872,761	V1775A	probably damaging	Het
Olfr141	A	G	2: 86,806,861	L46S	probably damaging	Het
Olfr292	T	C	7: 86,694,876	V140A	possibly damaging	Het
Olfr694	A	T	7: 106,688,998	H244Q	probably damaging	Het
Olfr735	T	C	14: 50,345,926	Y141C	probably damaging	Het
Olfr823	G	A	10: 130,112,580	S70F	probably damaging	Het
Oplah	A	G	15: 76,302,992	S570P	probably benign	Het
Osbpl11	C	A	16: 33,234,444	Y632*	probably null	Het
Osbpl5	A	T	7: 143,694,821	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,497,952	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,467,424	S132R	possibly damaging	Het
Ptpn13	T	A	5: 103,556,145	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,930,135	W8R	probably damaging	Het
Rgs3	T	G	4: 62,625,936	V315G	probably damaging	Het
Rora	T	A	9: 69,361,869	M82K	probably damaging	Het
Rph3al	T	C	11: 75,908,969	I55V	probably benign	Het
Sag	T	C	1: 87,812,991	V45A	probably damaging	Het
Scn3a	T	C	2: 65,536,510	E56G	probably damaging	Het
Sec24c	T	G	14: 20,686,948	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,138,979	L748S	probably damaging	Het
Stard9	A	T	2: 120,706,306	D4186V	probably damaging	Het
Stk39	T	C	2: 68,366,167	E306G	probably damaging	Het
Sycp1	C	A	3: 102,898,849		probably null	Het
Taf2	A	C	15: 55,060,050	L277R	probably damaging	Het
Tbc1d23	T	A	16: 57,173,106	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,361,304	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,060,141	H401R	probably benign	Het
Tie1	T	A	4: 118,476,147	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,728,102	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,453,507	N691S	probably benign	Het
Trim24	G	A	6: 37,957,783	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,357,976		probably benign	Het
Trpc4	T	G	3: 54,194,768	L29R	probably damaging	Het
Trpm6	A	T	19: 18,825,862	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,536	E442K	probably benign	Het
Uggt2	A	G	14: 119,095,336	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,138,884	S137R	probably benign	Het
Unc13a	A	G	8: 71,658,467	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,976,306	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,716,479	D231G	probably benign	Het
Ythdc2	A	T	18: 44,864,357	M994L	probably benign	Het
Zcchc6	A	T	13: 59,799,782	C506*	probably null	Het
Zfp804a	G	A	2: 82,257,588	S587N	probably damaging	Het
Zswim2	A	G	2: 83,923,659	I219T	probably benign	Het

Other mutations in Abcb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Abcb4	APN	5	8950073	missense	probably benign	0.02
IGL00663:Abcb4	APN	5	8927916	missense	probably damaging	1.00
IGL00671:Abcb4	APN	5	8930745	nonsense	probably null
IGL00822:Abcb4	APN	5	8950046	missense	probably benign
IGL01080:Abcb4	APN	5	8934258	missense	probably damaging	1.00
IGL01152:Abcb4	APN	5	8950678	missense	probably benign	0.19
IGL01329:Abcb4	APN	5	8894166	critical splice donor site	probably null
IGL01483:Abcb4	APN	5	8927871	missense	probably damaging	0.99
IGL01594:Abcb4	APN	5	8946071	splice site	probably null
IGL01785:Abcb4	APN	5	8915058	nonsense	probably null
IGL01968:Abcb4	APN	5	8927913	missense	probably benign	0.33
IGL02579:Abcb4	APN	5	8955537	missense	probably damaging	1.00
IGL02654:Abcb4	APN	5	8927826	missense	possibly damaging	0.80
IGL02658:Abcb4	APN	5	8934240	missense	probably benign
IGL03229:Abcb4	APN	5	8940936	missense	probably damaging	0.97
IGL03335:Abcb4	APN	5	8935258	missense	probably benign	0.00
FR4737:Abcb4	UTSW	5	8896597	small deletion	probably benign
P0014:Abcb4	UTSW	5	8950083	missense	probably benign	0.01
R0102:Abcb4	UTSW	5	8909194	missense	probably damaging	0.99
R0102:Abcb4	UTSW	5	8909194	missense	probably damaging	0.99
R0309:Abcb4	UTSW	5	8939835	missense	probably damaging	1.00
R0311:Abcb4	UTSW	5	8934243	missense	probably benign
R0420:Abcb4	UTSW	5	8941050	missense	probably benign	0.03
R0449:Abcb4	UTSW	5	8939885	nonsense	probably null
R1459:Abcb4	UTSW	5	8918662	missense	possibly damaging	0.61
R1470:Abcb4	UTSW	5	8940968	missense	probably damaging	0.98
R1470:Abcb4	UTSW	5	8940968	missense	probably damaging	0.98
R1812:Abcb4	UTSW	5	8928578	critical splice donor site	probably null
R1944:Abcb4	UTSW	5	8930796	missense	probably damaging	1.00
R2002:Abcb4	UTSW	5	8905989	missense	probably benign	0.01
R2256:Abcb4	UTSW	5	8958431	missense	probably damaging	1.00
R3116:Abcb4	UTSW	5	8896610	missense	possibly damaging	0.86
R4112:Abcb4	UTSW	5	8936783	critical splice acceptor site	probably null
R4354:Abcb4	UTSW	5	8918771	missense	probably benign	0.44
R4512:Abcb4	UTSW	5	8928573	missense	probably damaging	1.00
R4588:Abcb4	UTSW	5	8947328	missense	probably benign	0.01
R4628:Abcb4	UTSW	5	8907399	missense	probably benign	0.08
R4708:Abcb4	UTSW	5	8915125	missense	possibly damaging	0.90
R4714:Abcb4	UTSW	5	8930906	splice site	probably null
R4754:Abcb4	UTSW	5	8910717	missense	probably damaging	1.00
R4846:Abcb4	UTSW	5	8935180	missense	probably benign
R4896:Abcb4	UTSW	5	8907267	missense	possibly damaging	0.81
R4944:Abcb4	UTSW	5	8934327	critical splice donor site	probably null
R4994:Abcb4	UTSW	5	8928524	missense	probably damaging	1.00
R5022:Abcb4	UTSW	5	8909054	splice site	probably null
R5537:Abcb4	UTSW	5	8955485	missense	probably damaging	0.98
R5754:Abcb4	UTSW	5	8934320	missense	probably benign
R5833:Abcb4	UTSW	5	8958314	missense	probably damaging	1.00
R5934:Abcb4	UTSW	5	8930806	missense	probably benign	0.18
R6006:Abcb4	UTSW	5	8946026	missense	probably damaging	0.99
R6146:Abcb4	UTSW	5	8896587	missense	probably benign	0.05
R6183:Abcb4	UTSW	5	8918718	missense	probably benign
R6260:Abcb4	UTSW	5	8934219	nonsense	probably null
R6561:Abcb4	UTSW	5	8927825	missense	probably benign	0.14
R7016:Abcb4	UTSW	5	8936843	missense	probably benign	0.35
R7081:Abcb4	UTSW	5	8934263	missense	probably benign
R7326:Abcb4	UTSW	5	8934226	missense	probably benign	0.00
R7375:Abcb4	UTSW	5	8918671	missense	probably benign
R7787:Abcb4	UTSW	5	8909220	missense	probably damaging	1.00
R7836:Abcb4	UTSW	5	8934203	missense	probably benign
R8128:Abcb4	UTSW	5	8958395	missense	probably damaging	1.00
R8350:Abcb4	UTSW	5	8928578	critical splice donor site	probably null
R8438:Abcb4	UTSW	5	8946120	critical splice donor site	probably null
R8447:Abcb4	UTSW	5	8907278	missense	probably damaging	0.97
R8710:Abcb4	UTSW	5	8955495	missense	probably damaging	1.00
R8777:Abcb4	UTSW	5	8939894	missense	probably benign	0.01
R8777-TAIL:Abcb4	UTSW	5	8939894	missense	probably benign	0.01
R8837:Abcb4	UTSW	5	8936873	missense	probably damaging	0.99
R8987:Abcb4	UTSW	5	8927931	missense	probably benign	0.02
R9098:Abcb4	UTSW	5	8958441	missense	probably damaging	1.00
R9167:Abcb4	UTSW	5	8936849	nonsense	probably null
R9210:Abcb4	UTSW	5	8955591	missense	probably damaging	1.00
R9212:Abcb4	UTSW	5	8955591	missense	probably damaging	1.00
R9218:Abcb4	UTSW	5	8927960	missense	probably benign	0.20
R9242:Abcb4	UTSW	5	8899677	missense	probably damaging	1.00
R9376:Abcb4	UTSW	5	8958988	missense	probably damaging	1.00
R9476:Abcb4	UTSW	5	8927790	missense	probably damaging	1.00
RF015:Abcb4	UTSW	5	8896594	frame shift	probably null
RF047:Abcb4	UTSW	5	8896595	frame shift	probably null
Z1176:Abcb4	UTSW	5	8959005	missense	probably damaging	1.00
Z1177:Abcb4	UTSW	5	8939906	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGTGCTCCTTCAGCTAGACAC -3'
(R):5'- AGACTTTAGGCAGACTCCTCATCCC -3'

Sequencing Primer
(F):5'- CTTCAGCTAGACACAGGGTAAAAG -3'
(R):5'- gggatgatgaaactgcttgg -3'

Posted On

2013-07-11