Mutagenetix > Incidental Mutations

Incidental Mutation 'R7452:Abcg4'

577813

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44273188-44288615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44279600 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 249 (G249R)

Ref Sequence

ENSEMBL: ENSMUSP00000034648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000160384] [ENSMUST00000161354] [ENSMUST00000161408] [ENSMUST00000162783]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034648
AA Change: G249R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: G249R

Domain	Start	End	E-Value	Type
AAA	94	285	4.46e-14	SMART
Pfam:ABC2_membrane	372	583	1.6e-49	PFAM
transmembrane domain	616	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160384

Predicted Effect

probably damaging
Transcript: ENSMUST00000161354
AA Change: G249R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: G249R

Domain	Start	End	E-Value	Type
AAA	94	285	4.46e-14	SMART
Pfam:ABC2_membrane	372	583	4.8e-47	PFAM
transmembrane domain	616	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161408

Predicted Effect

probably damaging
Transcript: ENSMUST00000162783
AA Change: G1R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131
AA Change: G1R

Domain	Start	End	E-Value	Type
Blast:AAA	1	37	9e-20	BLAST
SCOP:d1gcya2	33	64	1e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a report allele exhibit increased brain lathosterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in Abcg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Abcg4	APN	9	44275142	splice site	probably benign
IGL00585:Abcg4	APN	9	44281623	missense	probably benign	0.04
IGL02016:Abcg4	APN	9	44287350	missense	probably damaging	0.99
IGL02085:Abcg4	APN	9	44281557	critical splice donor site	probably null
IGL02142:Abcg4	APN	9	44277717	missense	probably benign	0.18
IGL02171:Abcg4	APN	9	44275009	unclassified	probably benign
IGL02309:Abcg4	APN	9	44281828	missense	probably benign	0.21
IGL02882:Abcg4	APN	9	44277489	nonsense	probably null
R0009:Abcg4	UTSW	9	44277649	splice site	probably benign
R0023:Abcg4	UTSW	9	44275375	missense	probably damaging	0.99
R0481:Abcg4	UTSW	9	44279369	missense	probably benign	0.07
R0513:Abcg4	UTSW	9	44281687	missense	possibly damaging	0.61
R0644:Abcg4	UTSW	9	44274699	missense	possibly damaging	0.87
R0649:Abcg4	UTSW	9	44278033	missense	probably benign	0.00
R1084:Abcg4	UTSW	9	44277469	missense	probably benign	0.27
R1518:Abcg4	UTSW	9	44275369	missense	probably benign	0.05
R1528:Abcg4	UTSW	9	44274723	missense	probably damaging	0.99
R1702:Abcg4	UTSW	9	44275073	missense	probably damaging	0.99
R1932:Abcg4	UTSW	9	44279394	missense	probably benign	0.16
R4477:Abcg4	UTSW	9	44275086	missense	probably damaging	1.00
R4661:Abcg4	UTSW	9	44287330	missense	probably damaging	1.00
R4883:Abcg4	UTSW	9	44279319	missense	probably damaging	1.00
R4901:Abcg4	UTSW	9	44277657	critical splice donor site	probably null
R5039:Abcg4	UTSW	9	44281566	missense	probably damaging	1.00
R5209:Abcg4	UTSW	9	44275375	missense	probably damaging	0.99
R5329:Abcg4	UTSW	9	44279545	missense	probably benign	0.00
R5492:Abcg4	UTSW	9	44278058	missense	probably benign	0.01
R5521:Abcg4	UTSW	9	44279683	unclassified	probably benign
R5558:Abcg4	UTSW	9	44281408	missense	probably damaging	0.99
R5625:Abcg4	UTSW	9	44278036	missense	probably benign	0.42
R6318:Abcg4	UTSW	9	44275348	missense	probably benign
R7060:Abcg4	UTSW	9	44275128	missense	probably benign	0.13
R7129:Abcg4	UTSW	9	44279384	missense	probably benign	0.03
R7431:Abcg4	UTSW	9	44274700	missense	possibly damaging	0.87
X0028:Abcg4	UTSW	9	44274634	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGGTAACCACGCCCTTG -3'
(R):5'- GGGTGCCTTCCCACTAGTTC -3'

Sequencing Primer
(F):5'- ACGCCCTTGAAGATGCATTG -3'
(R):5'- AGTTCCATCCCTTTCACAGAAG -3'

Posted On

2019-10-07