Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Abcg1'

554656

Institutional Source

Beutler Lab

Gene Symbol

Abcg1

Ensembl Gene

ENSMUSG00000024030

Gene Name

ATP binding cassette subfamily G member 1

Synonyms

White, Abc8

Accession Numbers

Essential gene?

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

Stock #

PIT4362001 (G1)

Quality Score

168.009

Status

Not validated

Chromosome

Chromosomal Location

31276668-31336958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31283398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 28 (S28P)

Ref Sequence

ENSEMBL: ENSMUSP00000024829 (fasta)

Gene Model

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

AlphaFold

Q64343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024829
AA Change: S28P

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: S28P

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: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Cblb	T	A	16: 51,959,905 (GRCm39)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Ddhd2	T	C	8: 26,225,779 (GRCm39)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,206,471 (GRCm39)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,685,277 (GRCm39)	S282T	probably benign	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zbp1	A	G	2: 173,058,783 (GRCm39)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	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
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
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'- GCCAAGGGTATTCTAGAAAGGTC -3'
(R):5'- AACCTGTGGCTTCCTTCACG -3'

Sequencing Primer
(F):5'- AGTTCCTTCTTTCCAGAGC -3'
(R):5'- GCTGGTGGCTTCACTTCCTAC -3'

Posted On

2019-06-07