Mutagenetix > Incidental Mutation

Incidental Mutation 'R7973:Abcg1'

650748

Institutional Source

Beutler Lab

Gene Symbol

Abcg1

Ensembl Gene

ENSMUSG00000024030

Gene Name

ATP binding cassette subfamily G member 1

Synonyms

White, Abc8

MMRRC Submission

046016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R7973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31276668-31336958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31323132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000024829 (fasta)

Gene Model

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

AlphaFold

Q64343

Predicted Effect

probably damaging
Transcript: ENSMUST00000024829
AA Change: V237A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: V237A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	A	G	5: 115,084,112 (GRCm39)	D76G	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Akap11	A	T	14: 78,752,506 (GRCm39)	H122Q		Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef4	C	T	1: 34,763,518 (GRCm39)	R925W	possibly damaging	Het
Arid1a	C	T	4: 133,480,381 (GRCm39)	G181D	probably damaging	Het
Ash1l	T	A	3: 88,960,164 (GRCm39)	S2299T	probably benign	Het
Atf7ip	C	T	6: 136,538,062 (GRCm39)	Q432*	probably null	Het
B430306N03Rik	T	A	17: 48,623,483 (GRCm39)	S10T	probably benign	Het
Bckdk	A	G	7: 127,505,539 (GRCm39)	I221V	probably benign	Het
Brinp2	T	C	1: 158,074,057 (GRCm39)	Y688C	probably damaging	Het
Caml	C	T	13: 55,779,784 (GRCm39)	L286F	probably benign	Het
Ccdc125	C	T	13: 100,806,331 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,477 (GRCm39)	V116E	possibly damaging	Het
Cenpe	T	A	3: 134,929,011 (GRCm39)	I305N	probably damaging	Het
Cep41	C	T	6: 30,680,130 (GRCm39)	G33S	probably damaging	Het
Clec4b2	A	T	6: 123,181,148 (GRCm39)	I178L	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dapk1	T	A	13: 60,909,377 (GRCm39)	L1330Q	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fmnl1	G	T	11: 103,061,984 (GRCm39)		probably benign	Het
Galk1	A	G	11: 115,903,435 (GRCm39)	F24L	possibly damaging	Het
Hyal4	T	A	6: 24,755,785 (GRCm39)	M1K	probably null	Het
Ighe	T	C	12: 113,236,677 (GRCm39)	T64A		Het
Iqch	A	G	9: 63,432,228 (GRCm39)	I389T	possibly damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kdm1b	T	C	13: 47,230,922 (GRCm39)	S650P	probably benign	Het
Mapkapk5	T	G	5: 121,663,776 (GRCm39)	N426T	possibly damaging	Het
Mroh5	G	T	15: 73,664,614 (GRCm39)	Y90*	probably null	Het
Ncan	T	G	8: 70,550,225 (GRCm39)	I1184L	probably benign	Het
Nectin3	T	C	16: 46,216,484 (GRCm39)	T439A	probably benign	Het
Neo1	G	T	9: 58,897,476 (GRCm39)	A160E	probably damaging	Het
Nosip	T	C	7: 44,726,784 (GRCm39)	S295P	possibly damaging	Het
Nup205	T	A	6: 35,222,274 (GRCm39)	F1979L	probably benign	Het
Nxpe2	A	T	9: 48,231,168 (GRCm39)	D400E	probably damaging	Het
Or4a73	T	A	2: 89,421,331 (GRCm39)	I43F	probably damaging	Het
Pfkfb4	G	A	9: 108,854,179 (GRCm39)	R351Q	probably damaging	Het
Psg29	T	C	7: 16,944,462 (GRCm39)	I324T	probably benign	Het
Ptprh	G	T	7: 4,583,887 (GRCm39)	T235N	possibly damaging	Het
Ralgapa2	T	A	2: 146,230,481 (GRCm39)	N981I	possibly damaging	Het
Ralgps1	T	C	2: 33,036,651 (GRCm39)	Y421C	probably damaging	Het
Sf3b3	T	C	8: 111,542,922 (GRCm39)	E845G	possibly damaging	Het
Sgk1	G	T	10: 21,870,054 (GRCm39)	S31I	probably benign	Het
Sim1	T	G	10: 50,857,419 (GRCm39)	Y390D	probably damaging	Het
Slain2	T	A	5: 73,112,779 (GRCm39)	Y271*	probably null	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stab1	A	T	14: 30,881,590 (GRCm39)		probably null	Het
Supv3l1	A	T	10: 62,285,202 (GRCm39)	L88Q	probably damaging	Het
Syt2	C	A	1: 134,668,570 (GRCm39)		probably null	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Usp32	A	G	11: 84,913,634 (GRCm39)	I899T	probably damaging	Het
Usp6nl	G	T	2: 6,413,762 (GRCm39)	R96M	probably damaging	Het
Vmn1r75	A	G	7: 11,614,961 (GRCm39)	D231G	probably benign	Het
Vmn2r42	T	C	7: 8,197,872 (GRCm39)	E249G	probably benign	Het
Zbtb34	C	T	2: 33,301,531 (GRCm39)	G337R	probably benign	Het
Zfp457	T	A	13: 67,441,882 (GRCm39)	H231L	probably benign	Het
Zfp715	C	T	7: 42,949,321 (GRCm39)	G213D	possibly damaging	Het
Zfp760	T	G	17: 21,941,084 (GRCm39)	H86Q	probably benign	Het

Other mutations in Abcg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Abcg1	APN	17	31,324,514 (GRCm39)	missense	probably benign	0.11
IGL02496:Abcg1	APN	17	31,324,578 (GRCm39)	missense	probably damaging	0.98
IGL03264:Abcg1	APN	17	31,283,428 (GRCm39)	missense	probably benign	0.10
PIT4362001:Abcg1	UTSW	17	31,283,398 (GRCm39)	missense	possibly damaging	0.81
R0682:Abcg1	UTSW	17	31,330,225 (GRCm39)	missense	probably benign	0.13
R1036:Abcg1	UTSW	17	31,330,243 (GRCm39)	missense	probably damaging	1.00
R1109:Abcg1	UTSW	17	31,330,210 (GRCm39)	missense	probably benign	0.01
R1401:Abcg1	UTSW	17	31,333,132 (GRCm39)	missense	possibly damaging	0.93
R1500:Abcg1	UTSW	17	31,330,253 (GRCm39)	missense	probably benign	0.11
R2187:Abcg1	UTSW	17	31,324,491 (GRCm39)	missense	probably damaging	0.99
R2504:Abcg1	UTSW	17	31,311,369 (GRCm39)	missense	probably damaging	0.98
R3744:Abcg1	UTSW	17	31,330,190 (GRCm39)	splice site	probably benign
R4632:Abcg1	UTSW	17	31,283,447 (GRCm39)	missense	probably benign
R4657:Abcg1	UTSW	17	31,327,408 (GRCm39)	missense	probably benign	0.13
R4679:Abcg1	UTSW	17	31,333,235 (GRCm39)	missense	probably benign	0.31
R4845:Abcg1	UTSW	17	31,333,057 (GRCm39)	missense	possibly damaging	0.94
R5061:Abcg1	UTSW	17	31,311,366 (GRCm39)	missense	probably damaging	1.00
R5685:Abcg1	UTSW	17	31,317,260 (GRCm39)	nonsense	probably null
R6743:Abcg1	UTSW	17	31,327,321 (GRCm39)	missense	possibly damaging	0.92
R7084:Abcg1	UTSW	17	31,325,105 (GRCm39)	missense	probably benign
R7521:Abcg1	UTSW	17	31,283,543 (GRCm39)	missense	probably benign	0.15
R7716:Abcg1	UTSW	17	31,328,493 (GRCm39)	missense	probably benign	0.05
R7866:Abcg1	UTSW	17	31,317,269 (GRCm39)	nonsense	probably null
R8058:Abcg1	UTSW	17	31,324,504 (GRCm39)	missense	probably benign
R8087:Abcg1	UTSW	17	31,283,459 (GRCm39)	missense	probably benign	0.04
R9327:Abcg1	UTSW	17	31,333,122 (GRCm39)	missense	probably benign
Z1177:Abcg1	UTSW	17	31,325,140 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTCAGCATGTGTTCTTGACAGC -3'
(R):5'- ACAGAAGCCTGAGTCAGTGG -3'

Sequencing Primer
(F):5'- GCATGTGTTCTTGACAGCCATAAAG -3'
(R):5'- AGTCAGTGGCTTTGTCCTGTCAC -3'

Posted On

2020-09-15