Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Abcg8'

397642

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

042853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5182 (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 85000172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 243 (L243P)

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: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: L244P

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: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: L117P

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: L243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: L243P

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

0.9248

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dpf3	T	C	12: 83,417,370 (GRCm39)	E34G	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsdmc4	C	A	15: 63,765,653 (GRCm39)	V299F	probably damaging	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Nmd3	T	A	3: 69,629,801 (GRCm39)		probably null	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Pnma1	T	C	12: 84,193,819 (GRCm39)	I295V	probably benign	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Psmd12	T	C	11: 107,370,485 (GRCm39)	L28P	probably damaging	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	possibly damaging	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
R4693:Abcg8	UTSW	17	85,004,125 (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'- AAGACGTAATCGCCGAGCTG -3'
(R):5'- ATGTGAAGTACTGCACCATTTG -3'

Sequencing Primer
(F):5'- GTGCGCCAACACCAGAG -3'
(R):5'- CACCATTTGCTGCGCCG -3'

Posted On

2016-07-06