Mutagenetix > Incidental Mutation

Incidental Mutation 'R4845:Abcg1'

372136

Institutional Source

Beutler Lab

Gene Symbol

Abcg1

Ensembl Gene

ENSMUSG00000024030

Gene Name

ATP binding cassette subfamily G member 1

Synonyms

White, Abc8

MMRRC Submission

042458-MU

Accession Numbers

Essential gene?

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

Stock #

R4845 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

31276668-31336958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31333057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 600 (S600F)

Ref Sequence

ENSEMBL: ENSMUSP00000024829 (fasta)

Gene Model

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

AlphaFold

Q64343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024829
AA Change: S600F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: S600F

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	T	A	2: 20,885,998 (GRCm39)	N393I	probably damaging	Het
Atp5pf	T	A	16: 84,628,365 (GRCm39)	I6F	possibly damaging	Het
B4galt6	A	G	18: 20,821,517 (GRCm39)	L337S	probably benign	Het
C8b	G	T	4: 104,649,009 (GRCm39)	V308F	possibly damaging	Het
Cables1	A	G	18: 12,077,545 (GRCm39)	R558G	probably damaging	Het
Chmp2b	T	A	16: 65,347,862 (GRCm39)	Q38L	probably damaging	Het
Clca3b	A	T	3: 144,531,031 (GRCm39)	I773K	probably benign	Het
Cnmd	T	C	14: 79,899,448 (GRCm39)	T2A	probably benign	Het
Crb1	C	T	1: 139,170,772 (GRCm39)	D812N	probably benign	Het
Dnah7c	T	A	1: 46,832,692 (GRCm39)	D3901E	probably damaging	Het
Dst	T	C	1: 34,232,208 (GRCm39)	V3445A	probably benign	Het
Epn1	T	A	7: 5,096,908 (GRCm39)	I230N	possibly damaging	Het
Exoc6b	G	T	6: 84,812,119 (GRCm39)	D627E	probably benign	Het
Exosc1	T	C	19: 41,919,797 (GRCm39)	K74E	possibly damaging	Het
Extl3	T	C	14: 65,315,024 (GRCm39)	T53A	probably benign	Het
Fam227a	C	T	15: 79,533,912 (GRCm39)	R17H	probably damaging	Het
Faxc	G	T	4: 21,993,358 (GRCm39)	W334L	probably damaging	Het
Gabrr3	T	C	16: 59,246,833 (GRCm39)	I94T	probably damaging	Het
Ifi203	A	T	1: 173,754,595 (GRCm39)	M298K	probably benign	Het
Igkv4-78	A	T	6: 69,037,207 (GRCm39)	M1K	probably null	Het
Iqcm	G	T	8: 76,472,980 (GRCm39)	R273I	probably damaging	Het
Itga1	G	T	13: 115,110,708 (GRCm39)	S961*	probably null	Het
Jmy	T	A	13: 93,576,246 (GRCm39)	M886L	possibly damaging	Het
Lrp2	T	C	2: 69,339,585 (GRCm39)	T1109A	possibly damaging	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Mettl14	T	A	3: 123,165,004 (GRCm39)	E112V	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Musk	A	G	4: 58,296,679 (GRCm39)	D93G	probably damaging	Het
Myoc	C	T	1: 162,475,034 (GRCm39)	T195M	possibly damaging	Het
Ncapg2	A	G	12: 116,404,208 (GRCm39)	D893G	probably damaging	Het
Nrap	C	T	19: 56,339,902 (GRCm39)	V908M	probably benign	Het
Or4a79	T	C	2: 89,552,120 (GRCm39)	I112V	probably benign	Het
Or52n5	T	C	7: 104,588,570 (GRCm39)	V279A	possibly damaging	Het
Or5g9	T	A	2: 85,551,836 (GRCm39)	L29*	probably null	Het
Orc4	T	C	2: 48,799,478 (GRCm39)	N333S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	G	A	18: 37,489,771 (GRCm39)	G483D	probably benign	Het
Pclo	A	T	5: 14,729,132 (GRCm39)		probably benign	Het
Ppm1k	A	T	6: 57,499,753 (GRCm39)	Y174*	probably null	Het
Ptprq	A	T	10: 107,489,393 (GRCm39)	S911T	probably benign	Het
Rp1	C	A	1: 4,419,451 (GRCm39)	A554S	probably benign	Het
Sema3f	T	C	9: 107,562,700 (GRCm39)	Y427C	probably damaging	Het
Slc12a1	A	T	2: 125,030,146 (GRCm39)	I573F	probably damaging	Het
Slc17a1	A	T	13: 24,060,601 (GRCm39)	Y201F	probably damaging	Het
Slc4a7	A	T	14: 14,733,803 (GRCm38)	H71L	probably damaging	Het
Spata6l	G	T	19: 28,905,148 (GRCm39)	D305E	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tab1	C	T	15: 80,036,964 (GRCm39)	R217W	probably damaging	Het
Taf6	T	A	5: 138,180,909 (GRCm39)	Y224F	possibly damaging	Het
Tmc5	C	G	7: 118,241,604 (GRCm39)	F432L	probably damaging	Het
Trbc1	A	T	6: 41,516,169 (GRCm39)		probably benign	Het
Trbv21	A	G	6: 41,179,879 (GRCm39)	N65S	probably benign	Het
Trim15	G	A	17: 37,177,875 (GRCm39)	P40L	probably benign	Het
Txnip	T	C	3: 96,466,916 (GRCm39)	S197P	probably benign	Het
Vmn1r167	T	A	7: 23,204,158 (GRCm39)	Q286L	probably benign	Het
Wnt9a	A	G	11: 59,222,067 (GRCm39)	I322V	probably benign	Het
Zfp879	T	C	11: 50,724,672 (GRCm39)	E128G	probably damaging	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
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
R7973:Abcg1	UTSW	17	31,323,132 (GRCm39)	missense	probably damaging	0.98
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'- CTGGTGGCCTTGAAAGAAGC -3'
(R):5'- CCGGATTTTGTATCTGAGGACG -3'

Sequencing Primer
(F):5'- CCTTGAAAGAAGCAGGATTGTG -3'
(R):5'- TTTGTATCTGAGGACGAAATAGGC -3'

Posted On

2016-03-01