Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Abcg8'

355071

Institutional Source

Beutler Lab

Gene Symbol

Abcg8

Ensembl Gene

ENSMUSG00000024254

Gene Name

ATP binding cassette subfamily G member 8

Synonyms

Sterolin-2, 1300003C16Rik

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84983730-85007761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85004125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 478 (Y478H)

Ref Sequence

ENSEMBL: ENSMUSP00000126675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000170725] [ENSMUST00000171915]

AlphaFold

Q9DBM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045714
AA Change: Y479H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: Y479H

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	89	242	2.1e-29	PFAM
Pfam:ABC2_membrane	397	608	1.7e-36	PFAM
transmembrane domain	640	662	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170725
AA Change: Y352H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: Y352H

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	1	115	2.6e-18	PFAM
Pfam:ABC2_membrane	270	481	7.4e-38	PFAM
transmembrane domain	513	535	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171915
AA Change: Y478H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: Y478H

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	88	241	7.5e-30	PFAM
Pfam:ABC2_membrane	396	607	1.7e-37	PFAM
transmembrane domain	639	661	N/A	INTRINSIC

Meta Mutation Damage Score

0.4290

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	Het

Other mutations in Abcg8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Abcg8	APN	17	84,995,957 (GRCm39)	splice site	probably null
IGL01019:Abcg8	APN	17	84,999,423 (GRCm39)	missense	probably benign	0.21
IGL02498:Abcg8	APN	17	84,990,693 (GRCm39)	missense	probably benign
IGL02506:Abcg8	APN	17	84,999,916 (GRCm39)	missense	possibly damaging	0.84
IGL03077:Abcg8	APN	17	84,999,308 (GRCm39)	missense	probably damaging	1.00
R0086:Abcg8	UTSW	17	85,000,199 (GRCm39)	missense	probably damaging	1.00
R0130:Abcg8	UTSW	17	84,994,094 (GRCm39)	missense	probably damaging	1.00
R0930:Abcg8	UTSW	17	84,990,705 (GRCm39)	missense	probably benign	0.00
R1466:Abcg8	UTSW	17	84,994,155 (GRCm39)	splice site	probably benign
R1493:Abcg8	UTSW	17	85,004,107 (GRCm39)	missense	probably damaging	1.00
R1628:Abcg8	UTSW	17	84,999,419 (GRCm39)	nonsense	probably null
R1916:Abcg8	UTSW	17	84,995,958 (GRCm39)	critical splice acceptor site	probably null
R1935:Abcg8	UTSW	17	85,002,417 (GRCm39)	splice site	probably benign
R1971:Abcg8	UTSW	17	85,002,587 (GRCm39)	splice site	probably benign
R4638:Abcg8	UTSW	17	84,999,369 (GRCm39)	missense	probably damaging	1.00
R5182:Abcg8	UTSW	17	85,000,172 (GRCm39)	missense	probably damaging	1.00
R5227:Abcg8	UTSW	17	84,999,249 (GRCm39)	missense	probably damaging	1.00
R5621:Abcg8	UTSW	17	85,003,421 (GRCm39)	missense	probably damaging	0.96
R5772:Abcg8	UTSW	17	84,994,127 (GRCm39)	missense	probably damaging	1.00
R7315:Abcg8	UTSW	17	85,004,142 (GRCm39)	missense	probably damaging	0.99
R7709:Abcg8	UTSW	17	84,999,919 (GRCm39)	missense	probably damaging	0.99
R7951:Abcg8	UTSW	17	85,004,957 (GRCm39)	missense	probably damaging	1.00
R8231:Abcg8	UTSW	17	85,000,213 (GRCm39)	missense	probably damaging	1.00
R8947:Abcg8	UTSW	17	84,999,246 (GRCm39)	missense	probably damaging	1.00
R9004:Abcg8	UTSW	17	85,004,790 (GRCm39)	missense	probably benign	0.38
R9108:Abcg8	UTSW	17	85,000,243 (GRCm39)	missense	probably benign
R9396:Abcg8	UTSW	17	85,000,282 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcg8	UTSW	17	85,003,546 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcg8	UTSW	17	85,002,458 (GRCm39)	nonsense	probably null
Z1177:Abcg8	UTSW	17	84,999,434 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATAGCTTTGCGACGAGTGAGC -3'
(R):5'- GCTGCCCACAAGAGTATCATTTC -3'

Sequencing Primer
(F):5'- CTTTGCGACGAGTGAGCAAGTATC -3'
(R):5'- AAGAGTATCATTTCTGCCTCACAGC -3'

Posted On

2015-10-21