Mutagenetix > Incidental Mutations

Incidental Mutation 'R5061:Abcg1'

386648

Institutional Source

Beutler Lab

Gene Symbol

Abcg1

Ensembl Gene

ENSMUSG00000024030

Gene Name

ATP binding cassette subfamily G member 1

Synonyms

White, Abc8

MMRRC Submission

042651-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R5061 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

31057698-31115777 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31092392 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 124 (K124E)

Ref Sequence

ENSEMBL: ENSMUSP00000024829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024829]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024829
AA Change: K124E

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

SMART Domains

Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: K124E

Domain	Start	End	E-Value	Type
low complexity region	28	47	N/A	INTRINSIC
AAA	110	293	1.28e-14	SMART
Pfam:ABC2_membrane	391	602	1.4e-48	PFAM
transmembrane domain	636	658	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139013

Meta Mutation Damage Score

0.9631

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: 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 human protein is involved in macrophage cholesterol efflux and may regulate cellular lipid homeostasis in other cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal lipid homeostasis, increased numbers of multiple immune cell types, and abnormal response to a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953	H53R	probably benign	Het
Acot4	G	T	12: 84,038,701	R64L	probably benign	Het
Adam22	G	C	5: 8,180,238		probably benign	Het
Add2	G	A	6: 86,087,047		probably null	Het
Adgrb3	G	A	1: 25,068,128		probably benign	Het
Akap8l	T	G	17: 32,332,894	K441T	probably damaging	Het
Aspn	T	A	13: 49,566,604	S365R	probably damaging	Het
Atxn1	T	G	13: 45,557,093	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,500,203	H135N	probably damaging	Het
Borcs8	T	G	8: 70,140,358		probably null	Het
Col5a1	G	A	2: 27,952,378	D422N	unknown	Het
Cstad	A	T	2: 30,608,263	T37S	unknown	Het
Dgkq	A	T	5: 108,654,123	D455E	probably benign	Het
Dopey1	T	C	9: 86,503,108		probably benign	Het
Ebf3	T	C	7: 137,313,559	I84V	possibly damaging	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Eif3e	A	T	15: 43,252,261	W370R	probably damaging	Het
Eya3	T	A	4: 132,704,378	D323E	probably damaging	Het
F5	T	C	1: 164,194,180	L1408P	probably benign	Het
Gfod1	C	T	13: 43,200,516	G328S	probably benign	Het
Gja1	T	A	10: 56,387,656	L37Q	probably damaging	Het
Gm10650	T	A	3: 128,040,017		noncoding transcript	Het
Gm14226	T	A	2: 155,025,186	H354Q	probably benign	Het
Gm15056	T	C	8: 20,900,742	T60A	probably benign	Het
Gm6614	T	A	6: 142,008,688	M20L	probably benign	Het
Grrp1	T	C	4: 134,251,730	T146A	probably benign	Het
Hsd11b1	A	T	1: 193,242,245	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,880,122	I39M	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kdm7a	G	A	6: 39,151,452	P482S	possibly damaging	Het
Lama5	C	A	2: 180,198,786	E607*	probably null	Het
Lao1	T	A	4: 118,967,476	S252T	probably benign	Het
Lrp12	A	G	15: 39,878,254	F355S	probably damaging	Het
Mlycd	T	C	8: 119,410,304	F421S	probably damaging	Het
Nectin3	T	C	16: 46,448,449	E530G	probably benign	Het
Nifk	T	C	1: 118,332,939	*270R	probably null	Het
Ocln	T	C	13: 100,539,598	Y129C	probably damaging	Het
Olfr1130	C	T	2: 87,607,832	T148I	probably benign	Het
Olfr1278	T	A	2: 111,292,487	L73H	probably damaging	Het
Olfr1472	A	T	19: 13,453,985	C177*	probably null	Het
Olfr685	T	A	7: 105,180,657	I219F	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Ppcs	T	C	4: 119,419,215	K58E	probably damaging	Het
Prss38	T	C	11: 59,374,370	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,720,433		probably null	Het
Rbm18	A	G	2: 36,127,205	F54L	possibly damaging	Het
Rwdd3	G	A	3: 121,159,783		probably benign	Het
Ryr2	T	C	13: 11,635,536	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,713,532		probably null	Het
Serpinb10	A	G	1: 107,540,971	T115A	probably benign	Het
Slx4ip	T	G	2: 137,044,010	F83L	probably damaging	Het
St3gal1	A	T	15: 67,108,229	S274T	probably benign	Het
Stab1	A	C	14: 31,163,099	C121W	probably damaging	Het
Stab2	A	G	10: 86,907,385	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954	I77R	probably benign	Het
Tbk1	T	G	10: 121,576,336	E47A	possibly damaging	Het
Tert	C	T	13: 73,634,278	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,552,027	D252G	probably damaging	Het
Tll1	C	A	8: 64,053,949	C586F	probably damaging	Het
Tln2	T	G	9: 67,354,468	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,320,542		probably null	Het
Unc79	T	A	12: 103,168,441	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,957,274	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,581,814	S693A	probably benign	Het
Vps54	G	A	11: 21,319,881		probably benign	Het
Znfx1	T	C	2: 167,065,398		probably benign	Het

Other mutations in Abcg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Abcg1	APN	17	31105540	missense	probably benign	0.11
IGL02496:Abcg1	APN	17	31105604	missense	probably damaging	0.98
IGL03264:Abcg1	APN	17	31064454	missense	probably benign	0.10
PIT4362001:Abcg1	UTSW	17	31064424	missense	possibly damaging	0.81
R0682:Abcg1	UTSW	17	31111251	missense	probably benign	0.13
R1036:Abcg1	UTSW	17	31111269	missense	probably damaging	1.00
R1109:Abcg1	UTSW	17	31111236	missense	probably benign	0.01
R1401:Abcg1	UTSW	17	31114158	missense	possibly damaging	0.93
R1500:Abcg1	UTSW	17	31111279	missense	probably benign	0.11
R2187:Abcg1	UTSW	17	31105517	missense	probably damaging	0.99
R2504:Abcg1	UTSW	17	31092395	missense	probably damaging	0.98
R3744:Abcg1	UTSW	17	31111216	splice site	probably benign
R4632:Abcg1	UTSW	17	31064473	missense	probably benign
R4657:Abcg1	UTSW	17	31108434	missense	probably benign	0.13
R4679:Abcg1	UTSW	17	31114261	missense	probably benign	0.31
R4845:Abcg1	UTSW	17	31114083	missense	possibly damaging	0.94
R5685:Abcg1	UTSW	17	31098286	nonsense	probably null
R6743:Abcg1	UTSW	17	31108347	missense	possibly damaging	0.92
R7084:Abcg1	UTSW	17	31106131	missense	probably benign
R7521:Abcg1	UTSW	17	31064569	missense	probably benign	0.15
R7716:Abcg1	UTSW	17	31109519	missense	probably benign	0.05
R7866:Abcg1	UTSW	17	31098295	nonsense	probably null
R7973:Abcg1	UTSW	17	31104158	missense	probably damaging	0.98
R8058:Abcg1	UTSW	17	31105530	missense	probably benign
R8087:Abcg1	UTSW	17	31064485	missense	probably benign	0.04
Z1177:Abcg1	UTSW	17	31106166	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATACCGTGGGAGACTTTGCC -3'
(R):5'- GCTTCCTCCATGGATTCTCAAG -3'

Sequencing Primer
(F):5'- CTTTGGCCCCAGCAGTTCAG -3'
(R):5'- TCTCAAGCTCTGGATGCAAG -3'

Posted On

2016-06-06