Mutagenetix > Incidental Mutations

Incidental Mutation 'R5521:Abcg4'

431553

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

043080-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R5521 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

44273188-44288615 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 44279683 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000160384] [ENSMUST00000161354] [ENSMUST00000161408] [ENSMUST00000162783]

Predicted Effect

probably benign
Transcript: ENSMUST00000034648

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131

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 benign
Transcript: ENSMUST00000160384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161206

Predicted Effect

probably benign
Transcript: ENSMUST00000161354

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131

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: ENSMUST00000161408

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

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14a	G	T	9: 106,443,834	D107E	probably damaging	Het
Acat1	T	A	9: 53,583,507	K362*	probably null	Het
Adad2	T	A	8: 119,612,789	S3R	probably benign	Het
Adcy8	C	A	15: 64,815,350	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,419,389	S5222T	probably benign	Het
Ankk1	A	T	9: 49,420,448	M182K	probably benign	Het
Apba1	C	T	19: 23,893,593	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,765,494	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,752,266	T118I	possibly damaging	Het
Cenpe	T	C	3: 135,269,065	S2329P	probably damaging	Het
Chil4	A	G	3: 106,203,697	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,675,245	S390A	probably benign	Het
Dars	T	C	1: 128,373,973	D308G	probably benign	Het
Dlec1	A	C	9: 119,143,401	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 70,006,407	E312K	probably damaging	Het
Fchsd1	T	C	18: 37,966,484	H219R	probably damaging	Het
Foxd4	A	C	19: 24,899,643	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970	F72I	probably damaging	Het
Gm5414	T	C	15: 101,627,987	I68V	probably benign	Het
Gmip	C	T	8: 69,817,399	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,278,694	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,158,328	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,260,613	D48G	probably benign	Het
Il3	G	A	11: 54,267,132	T40M	possibly damaging	Het
Ing2	T	C	8: 47,669,213	E100G	probably damaging	Het
Itpr3	C	A	17: 27,107,334	H1359Q	probably benign	Het
Lama1	T	A	17: 67,780,894	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,310,938	G579W	probably damaging	Het
Mapk6	G	A	9: 75,393,316		probably benign	Het
Mapk8ip2	C	T	15: 89,458,804	R616W	probably damaging	Het
Mc5r	T	A	18: 68,339,677	L369H	possibly damaging	Het
Meis1	T	C	11: 18,988,260		probably benign	Het
Mmp8	A	G	9: 7,560,643	K107R	probably benign	Het
Mn1	C	T	5: 111,421,769	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,154,914	L1172P	probably damaging	Het
Nek9	C	T	12: 85,327,445	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,321,765	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020		noncoding transcript	Het
Oit3	G	T	10: 59,435,914	A207E	probably benign	Het
Olfr1140	A	G	2: 87,747,062	I289V	probably benign	Het
Olfr298	A	T	7: 86,488,631	C307S	probably benign	Het
Olfr462	A	T	11: 87,889,719	M59K	probably damaging	Het
Olfr71	A	T	4: 43,705,788	M260K	possibly damaging	Het
Pde4c	T	C	8: 70,747,382		probably null	Het
Ppp1r26	A	G	2: 28,451,426	E356G	probably benign	Het
Pramef12	A	G	4: 144,395,971	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,844,321		noncoding transcript	Het
Ptpn13	T	G	5: 103,501,428	F232L	probably benign	Het
Reps1	T	C	10: 18,104,234	S114P	probably damaging	Het
Scarf2	T	A	16: 17,803,602		probably null	Het
Sdha	A	T	13: 74,350,099		probably benign	Het
Secisbp2l	A	T	2: 125,752,977	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,654,859	T385S	probably benign	Het
Slc4a1	G	A	11: 102,353,266	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,520,552	E353V	probably damaging	Het
Thap2	T	A	10: 115,372,760	K152*	probably null	Het
Thbd	A	T	2: 148,407,735	I71N	probably damaging	Het
V1ra8	T	A	6: 90,203,054	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,136,573	Y30C	probably benign	Het
Vmn2r60	C	A	7: 42,195,625	T804K	probably damaging	Het
Vmn2r68	A	T	7: 85,233,718	D275E	probably benign	Het
Vps13c	A	G	9: 67,951,439	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,346,271	P507Q	probably damaging	Het
Zfp120	A	T	2: 150,117,579	Y274*	probably null	Het
Zfp780b	C	A	7: 27,974,748		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
R0023:Abcg4	UTSW	9	44275375	missense	probably damaging	0.99
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
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
R8463:Abcg4	UTSW	9	44281612	missense	probably damaging	0.99
X0028:Abcg4	UTSW	9	44274634	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCAGGGATACGATACTGAC -3'
(R):5'- CACATCTGAACCACAGGAGG -3'

Sequencing Primer
(F):5'- CAGGGATACGATACTGACCTTGTC -3'
(R):5'- TGGAGGAATGCCATTTACCC -3'

Posted On

2016-10-05