Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Abcg4'

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395709

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44273188-44288615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44281566 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 161 (A161V)

Ref Sequence

ENSEMBL: ENSMUSP00000124647 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034648
AA Change: A161V

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

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: A161V

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

noncoding transcript
Transcript: ENSMUST00000085979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160323

Predicted Effect

probably benign
Transcript: ENSMUST00000160384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161206

Predicted Effect

probably damaging
Transcript: ENSMUST00000161354
AA Change: A161V

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

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: A161V

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 benign
Transcript: ENSMUST00000162783

SMART Domains

Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131

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

Meta Mutation Damage Score

0.1779

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	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
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
R7452:Abcg4	UTSW	9	44279600	missense	probably damaging	1.00
R8463:Abcg4	UTSW	9	44281612	missense	probably damaging	0.99
X0028:Abcg4	UTSW	9	44274634	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAGCATTGCCCCTGAAGC -3'
(R):5'- AACGTGGCTTTGGTGCTCAC -3'

Sequencing Primer
(F):5'- ATTGCCCCTGAAGCCCATG -3'
(R):5'- TGGTGCTCACTGCCAAC -3'

Posted On

2016-06-21