Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Abcg4'

43375

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

038681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44184485-44199912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44190666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 39 (N39Y)

Ref Sequence

ENSEMBL: ENSMUSP00000123999 (fasta)

Gene Model

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

AlphaFold

Q91WA9

Predicted Effect

probably benign
Transcript: ENSMUST00000034648
AA Change: N287Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: N287Y

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 benign
Transcript: ENSMUST00000162783
AA Change: N39Y

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131
AA Change: N39Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161354
AA Change: N287Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: N287Y

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bicd1	A	T	6: 149,413,389 (GRCm39)	D260V	possibly damaging	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Furin	A	G	7: 80,043,297 (GRCm39)	C305R	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Gjb3	T	A	4: 127,220,125 (GRCm39)	I136F	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,611,726 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,214,175 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	probably benign	Het

Other mutations in Abcg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Abcg4	APN	9	44,186,439 (GRCm39)	splice site	probably benign
IGL00585:Abcg4	APN	9	44,192,920 (GRCm39)	missense	probably benign	0.04
IGL02016:Abcg4	APN	9	44,198,647 (GRCm39)	missense	probably damaging	0.99
IGL02085:Abcg4	APN	9	44,192,854 (GRCm39)	critical splice donor site	probably null
IGL02142:Abcg4	APN	9	44,189,014 (GRCm39)	missense	probably benign	0.18
IGL02171:Abcg4	APN	9	44,186,306 (GRCm39)	unclassified	probably benign
IGL02309:Abcg4	APN	9	44,193,125 (GRCm39)	missense	probably benign	0.21
IGL02882:Abcg4	APN	9	44,188,786 (GRCm39)	nonsense	probably null
R0009:Abcg4	UTSW	9	44,188,946 (GRCm39)	splice site	probably benign
R0023:Abcg4	UTSW	9	44,186,672 (GRCm39)	missense	probably damaging	0.99
R0513:Abcg4	UTSW	9	44,192,984 (GRCm39)	missense	possibly damaging	0.61
R0644:Abcg4	UTSW	9	44,185,996 (GRCm39)	missense	possibly damaging	0.87
R0649:Abcg4	UTSW	9	44,189,330 (GRCm39)	missense	probably benign	0.00
R1084:Abcg4	UTSW	9	44,188,766 (GRCm39)	missense	probably benign	0.27
R1518:Abcg4	UTSW	9	44,186,666 (GRCm39)	missense	probably benign	0.05
R1528:Abcg4	UTSW	9	44,186,020 (GRCm39)	missense	probably damaging	0.99
R1702:Abcg4	UTSW	9	44,186,370 (GRCm39)	missense	probably damaging	0.99
R1932:Abcg4	UTSW	9	44,190,691 (GRCm39)	missense	probably benign	0.16
R4477:Abcg4	UTSW	9	44,186,383 (GRCm39)	missense	probably damaging	1.00
R4661:Abcg4	UTSW	9	44,198,627 (GRCm39)	missense	probably damaging	1.00
R4883:Abcg4	UTSW	9	44,190,616 (GRCm39)	missense	probably damaging	1.00
R4901:Abcg4	UTSW	9	44,188,954 (GRCm39)	critical splice donor site	probably null
R5039:Abcg4	UTSW	9	44,192,863 (GRCm39)	missense	probably damaging	1.00
R5209:Abcg4	UTSW	9	44,186,672 (GRCm39)	missense	probably damaging	0.99
R5329:Abcg4	UTSW	9	44,190,842 (GRCm39)	missense	probably benign	0.00
R5492:Abcg4	UTSW	9	44,189,355 (GRCm39)	missense	probably benign	0.01
R5521:Abcg4	UTSW	9	44,190,980 (GRCm39)	unclassified	probably benign
R5558:Abcg4	UTSW	9	44,192,705 (GRCm39)	missense	probably damaging	0.99
R5625:Abcg4	UTSW	9	44,189,333 (GRCm39)	missense	probably benign	0.42
R6318:Abcg4	UTSW	9	44,186,645 (GRCm39)	missense	probably benign
R7060:Abcg4	UTSW	9	44,186,425 (GRCm39)	missense	probably benign	0.13
R7129:Abcg4	UTSW	9	44,190,681 (GRCm39)	missense	probably benign	0.03
R7431:Abcg4	UTSW	9	44,185,997 (GRCm39)	missense	possibly damaging	0.87
R7452:Abcg4	UTSW	9	44,190,897 (GRCm39)	missense	probably damaging	1.00
R8463:Abcg4	UTSW	9	44,192,909 (GRCm39)	missense	probably damaging	0.99
R8960:Abcg4	UTSW	9	44,186,063 (GRCm39)	nonsense	probably null
R8978:Abcg4	UTSW	9	44,192,395 (GRCm39)	missense	probably benign	0.05
R9144:Abcg4	UTSW	9	44,192,708 (GRCm39)	missense	possibly damaging	0.79
X0028:Abcg4	UTSW	9	44,185,931 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TACTCTCCAGAGGCCACCTCAATG -3'
(R):5'- CCCAGTGCCAAGCTCTTTGAGATG -3'

Sequencing Primer
(F):5'- AGTGCTCAGCTAGGCTTCAC -3'
(R):5'- GTTTGACAAGGTCAGTATCGTATCC -3'

Posted On

2013-05-23