Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R5061 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

31276668-31336958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31311366 bp (GRCm39)

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]

AlphaFold

Q64343

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 (GRCm39)	H53R	probably benign	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		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
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'- ATACCGTGGGAGACTTTGCC -3'
(R):5'- GCTTCCTCCATGGATTCTCAAG -3'

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

Posted On

2016-06-06