Mutagenetix > Incidental Mutation

Incidental Mutation 'R1935:Abcg8'

215961

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

039953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84983730-85007761 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 85002417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126675 (fasta)

Gene Model

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

AlphaFold

Q9DBM0

Predicted Effect

probably benign
Transcript: ENSMUST00000045714

SMART Domains

Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254

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 benign
Transcript: ENSMUST00000170725

SMART Domains

Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254

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 benign
Transcript: ENSMUST00000171915

SMART Domains

Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254

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

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.6%

Validation Efficiency

95% (95/100)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atg2a	A	G	19: 6,302,566 (GRCm39)	Y963C	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atrn	T	C	2: 130,799,955 (GRCm39)	V444A	probably damaging	Het
Avpr1a	G	A	10: 122,285,695 (GRCm39)		probably null	Het
Best3	A	C	10: 116,860,291 (GRCm39)	Q517P	probably benign	Het
C3	A	G	17: 57,525,829 (GRCm39)	L851P	probably damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Carns1	T	C	19: 4,215,473 (GRCm39)	E903G	probably damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,088,380 (GRCm39)	S148P	possibly damaging	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cnot2	G	C	10: 116,334,320 (GRCm39)	P274R	possibly damaging	Het
Cops7a	G	A	6: 124,939,359 (GRCm39)	R97*	probably null	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Ddrgk1	G	T	2: 130,505,480 (GRCm39)		probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dnah8	G	A	17: 30,945,870 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,854,479 (GRCm39)	E47G	unknown	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
H2-Q1	A	T	17: 35,542,469 (GRCm39)	M305L	probably benign	Het
Hoxa10	C	A	6: 52,211,350 (GRCm39)	G189C	possibly damaging	Het
Kbtbd4	T	C	2: 90,737,895 (GRCm39)	V215A	probably damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Med19	A	G	2: 84,516,002 (GRCm39)	H177R	possibly damaging	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Mpl	A	G	4: 118,312,936 (GRCm39)	M132T	probably benign	Het
Mtcl1	G	T	17: 66,686,409 (GRCm39)	H480Q	probably benign	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or14j7	T	A	17: 38,234,993 (GRCm39)	C179S	probably damaging	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or4c11	A	C	2: 88,695,524 (GRCm39)	M192L	probably benign	Het
Or6c214	A	G	10: 129,590,584 (GRCm39)	V245A	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pom121	G	A	5: 135,412,740 (GRCm39)	R481C	unknown	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Rtl1	A	G	12: 109,558,354 (GRCm39)	S1162P	probably benign	Het
Samd9l	G	T	6: 3,376,269 (GRCm39)	Q331K	probably benign	Het
Sipa1l1	T	C	12: 82,419,208 (GRCm39)	Y629H	probably damaging	Het
Slc12a2	A	T	18: 58,037,425 (GRCm39)	I512L	possibly damaging	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Snw1	T	A	12: 87,506,247 (GRCm39)	I218F	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Thra	T	A	11: 98,653,899 (GRCm39)		probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmem50a	A	G	4: 134,630,953 (GRCm39)		probably benign	Het
Tmem63b	A	G	17: 45,989,887 (GRCm39)		probably null	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trip12	T	C	1: 84,771,822 (GRCm39)	S109G	possibly damaging	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Tubgcp4	A	T	2: 121,009,147 (GRCm39)		probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Zfp408	A	T	2: 91,480,093 (GRCm39)	M1K	probably null	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	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
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
R4693:Abcg8	UTSW	17	85,004,125 (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	85,002,458 (GRCm39)	nonsense	probably null
Z1177:Abcg8	UTSW	17	84,999,434 (GRCm39)	missense	possibly damaging	0.95
Z1177:Abcg8	UTSW	17	85,003,546 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTGTAGAAATCTCTGTAGTGATG -3'
(R):5'- TTCCCGTACCTGACTGTGTG -3'

Sequencing Primer
(F):5'- AGAAATCTCTGTAGTGATGGGATG -3'
(R):5'- ACCTGACTGTGTGGGTGC -3'

Posted On

2014-07-14