Mutagenetix > Incidental Mutations

Incidental Mutation 'R0023:Abcg4'

64828

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

038318-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44273188-44288615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44275375 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 491 (Y491H)

Ref Sequence

ENSEMBL: ENSMUSP00000124647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000161354] [ENSMUST00000162783]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034648
AA Change: Y491H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: Y491H

Domain	Start	End	E-Value	Type
AAA	94	285	4.46e-14	SMART
Pfam:ABC2_membrane	372	583	1.6e-49	PFAM
transmembrane domain	616	638	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160323

Predicted Effect

probably damaging
Transcript: ENSMUST00000161354
AA Change: Y491H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: Y491H

Domain	Start	End	E-Value	Type
AAA	94	285	4.46e-14	SMART
Pfam:ABC2_membrane	372	583	4.8e-47	PFAM
transmembrane domain	616	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162783

SMART Domains

Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131

Domain	Start	End	E-Value	Type
Blast:AAA	1	37	9e-20	BLAST
SCOP:d1gcya2	33	64	1e-2	SMART

Meta Mutation Damage Score

0.9139

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (59/60)

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 ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a report allele exhibit increased brain lathosterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	C	4: 144,528,997	D329A	probably damaging	Het
Abcc12	T	A	8: 86,538,333	H661L	probably damaging	Het
Acsbg2	C	G	17: 56,847,710	A481P	probably damaging	Het
Aknad1	T	A	3: 108,781,185	C610S	probably benign	Het
Ang4	G	T	14: 51,764,403	Y29*	probably null	Het
Aqp11	A	T	7: 97,726,689	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,691,176	T1032K	unknown	Het
Atg16l1	T	C	1: 87,789,465	V538A	probably benign	Het
Bbs1	C	T	19: 4,906,014	A44T	probably damaging	Het
Bpifa3	A	C	2: 154,138,150	H234P	probably damaging	Het
Btbd9	A	T	17: 30,530,214	V42E	probably damaging	Het
Carmil3	C	G	14: 55,492,876	S15R	probably damaging	Het
Casp8ap2	A	G	4: 32,640,185	D413G	probably damaging	Het
Cfap44	T	A	16: 44,421,220	F651L	probably benign	Het
Clcn3	A	T	8: 60,933,070		probably benign	Het
Crip3	A	G	17: 46,430,994	K136E	probably damaging	Het
Ctr9	G	A	7: 111,043,947	A509T	possibly damaging	Het
D930020B18Rik	T	C	10: 121,689,821	S367P	probably damaging	Het
Dhrs11	A	T	11: 84,823,150	L125H	probably damaging	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Efcab7	A	T	4: 99,901,637		probably benign	Het
Eif2ak4	A	C	2: 118,462,721	S1253R	probably damaging	Het
Emc1	A	G	4: 139,371,009	D767G	probably damaging	Het
Fads1	G	A	19: 10,186,897		probably benign	Het
Fbxw26	T	C	9: 109,718,011	T449A	probably benign	Het
Frrs1	T	C	3: 116,896,788	F27L	probably damaging	Het
Fry	T	C	5: 150,451,098	S2358P	possibly damaging	Het
Gas6	A	C	8: 13,470,344	L448R	probably damaging	Het
Hikeshi	T	C	7: 89,920,204		probably benign	Het
Ifngr1	C	T	10: 19,609,449	R399*	probably null	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Knl1	C	T	2: 119,102,549	T2063I	possibly damaging	Het
Lyzl6	A	G	11: 103,636,871	V9A	probably benign	Het
Macf1	A	T	4: 123,488,314		probably benign	Het
Myo6	T	C	9: 80,283,534	V789A	possibly damaging	Het
Myo9b	A	T	8: 71,333,768	R693W	probably damaging	Het
Nasp	A	G	4: 116,605,771		probably benign	Het
Nr1i3	T	C	1: 171,217,331	F247L	probably damaging	Het
Plekhs1	T	G	19: 56,478,516	S260A	probably damaging	Het
Rpl21-ps6	T	C	17: 55,915,536		noncoding transcript	Het
Rtcb	A	T	10: 85,949,451		probably benign	Het
Sppl2a	T	A	2: 126,913,293		probably null	Het
Suco	A	T	1: 161,845,585		probably null	Het
Tnn	T	A	1: 160,104,928	T1075S	probably benign	Het
Traf3	T	A	12: 111,243,478	C169*	probably null	Het
Ucp3	G	T	7: 100,485,043	V288L	probably benign	Het
Ulk3	C	A	9: 57,590,356	C4*	probably null	Het
Vmn1r73	A	T	7: 11,757,070	T272S	probably benign	Het
Vmn2r115	G	A	17: 23,346,278	E380K	probably benign	Het
Vmn2r3	T	A	3: 64,275,366	N304I	probably damaging	Het
Xylt1	G	T	7: 117,634,701	G485V	probably damaging	Het
Yars	A	G	4: 129,197,188	T130A	probably benign	Het
Zfp652	A	T	11: 95,753,469	R205*	probably null	Het

Other mutations in Abcg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Abcg4	APN	9	44275142	splice site	probably benign
IGL00585:Abcg4	APN	9	44281623	missense	probably benign	0.04
IGL02016:Abcg4	APN	9	44287350	missense	probably damaging	0.99
IGL02085:Abcg4	APN	9	44281557	critical splice donor site	probably null
IGL02142:Abcg4	APN	9	44277717	missense	probably benign	0.18
IGL02171:Abcg4	APN	9	44275009	unclassified	probably benign
IGL02309:Abcg4	APN	9	44281828	missense	probably benign	0.21
IGL02882:Abcg4	APN	9	44277489	nonsense	probably null
R0009:Abcg4	UTSW	9	44277649	splice site	probably benign
R0481:Abcg4	UTSW	9	44279369	missense	probably benign	0.07
R0513:Abcg4	UTSW	9	44281687	missense	possibly damaging	0.61
R0644:Abcg4	UTSW	9	44274699	missense	possibly damaging	0.87
R0649:Abcg4	UTSW	9	44278033	missense	probably benign	0.00
R1084:Abcg4	UTSW	9	44277469	missense	probably benign	0.27
R1518:Abcg4	UTSW	9	44275369	missense	probably benign	0.05
R1528:Abcg4	UTSW	9	44274723	missense	probably damaging	0.99
R1702:Abcg4	UTSW	9	44275073	missense	probably damaging	0.99
R1932:Abcg4	UTSW	9	44279394	missense	probably benign	0.16
R4477:Abcg4	UTSW	9	44275086	missense	probably damaging	1.00
R4661:Abcg4	UTSW	9	44287330	missense	probably damaging	1.00
R4883:Abcg4	UTSW	9	44279319	missense	probably damaging	1.00
R4901:Abcg4	UTSW	9	44277657	critical splice donor site	probably null
R5039:Abcg4	UTSW	9	44281566	missense	probably damaging	1.00
R5209:Abcg4	UTSW	9	44275375	missense	probably damaging	0.99
R5329:Abcg4	UTSW	9	44279545	missense	probably benign	0.00
R5492:Abcg4	UTSW	9	44278058	missense	probably benign	0.01
R5521:Abcg4	UTSW	9	44279683	unclassified	probably benign
R5558:Abcg4	UTSW	9	44281408	missense	probably damaging	0.99
R5625:Abcg4	UTSW	9	44278036	missense	probably benign	0.42
R6318:Abcg4	UTSW	9	44275348	missense	probably benign
R7060:Abcg4	UTSW	9	44275128	missense	probably benign	0.13
R7129:Abcg4	UTSW	9	44279384	missense	probably benign	0.03
R7431:Abcg4	UTSW	9	44274700	missense	possibly damaging	0.87
R7452:Abcg4	UTSW	9	44279600	missense	probably damaging	1.00
X0028:Abcg4	UTSW	9	44274634	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTGTCCTCGCTCCATACCATAG -3'
(R):5'- TCAGTCTACAAGGCGGCATGAAC -3'

Sequencing Primer
(F):5'- GAACAGAGCTTGGCTGTTAC -3'
(R):5'- GCGGCATGAACAAGAGC -3'

Posted On

2013-08-06