Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Abcg4'

166376

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

039568-MU

Accession Numbers

Essential gene?

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

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44184485-44199912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44186020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 617 (Y617C)

Ref Sequence

ENSEMBL: ENSMUSP00000124647 (fasta)

Gene Model

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

AlphaFold

Q91WA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034648
AA Change: Y617C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: Y617C

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 damaging
Transcript: ENSMUST00000161354
AA Change: Y617C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: Y617C

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: 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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,530 (GRCm39)	Q262L	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ano1	T	G	7: 144,149,303 (GRCm39)	S853R	probably damaging	Het
Ap4e1	T	A	2: 126,853,743 (GRCm39)	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,439,693 (GRCm39)	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,940,171 (GRCm39)	D982V	probably damaging	Het
Atxn2	T	C	5: 121,951,593 (GRCm39)	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,847,755 (GRCm39)	C136R	possibly damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Cacna1i	A	G	15: 80,275,975 (GRCm39)		probably null	Het
Ccdc122	T	A	14: 77,305,379 (GRCm39)	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,522,078 (GRCm39)	D90G	probably damaging	Het
Cep104	T	G	4: 154,078,965 (GRCm39)	V323G	probably benign	Het
Chmp6	A	G	11: 119,807,541 (GRCm39)	D128G	probably benign	Het
Clec18a	A	T	8: 111,805,498 (GRCm39)	M201K	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,952,419 (GRCm39)	M493K	probably damaging	Het
Crygd	A	C	1: 65,102,216 (GRCm39)		probably null	Het
Dennd1c	T	C	17: 57,373,935 (GRCm39)	T543A	probably benign	Het
Erbb4	A	T	1: 68,117,741 (GRCm39)	C891*	probably null	Het
Ercc5	A	T	1: 44,217,401 (GRCm39)	K915*	probably null	Het
Ercc6	A	T	14: 32,240,979 (GRCm39)	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,863,384 (GRCm39)	P6T	unknown	Het
Exoc1	A	G	5: 76,697,411 (GRCm39)	K396R	possibly damaging	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Fcsk	A	T	8: 111,609,873 (GRCm39)	L1047Q	probably damaging	Het
Fgf7	T	A	2: 125,877,738 (GRCm39)	M35K	probably damaging	Het
Fras1	G	A	5: 96,784,678 (GRCm39)	G887D	probably damaging	Het
Gbp4	A	T	5: 105,269,658 (GRCm39)		probably null	Het
Homez	A	T	14: 55,095,162 (GRCm39)	M182K	probably benign	Het
Hrnr	G	A	3: 93,230,101 (GRCm39)	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,589,072 (GRCm39)	S83A	probably benign	Het
Ildr2	A	G	1: 166,098,064 (GRCm39)		probably null	Het
Klhdc1	A	T	12: 69,309,972 (GRCm39)	R291S	probably benign	Het
Krt77	T	A	15: 101,769,523 (GRCm39)	I413F	probably damaging	Het
Lipn	A	G	19: 34,046,070 (GRCm39)	I14M	probably damaging	Het
Macf1	T	G	4: 123,369,807 (GRCm39)	R86S	probably benign	Het
Mroh8	C	A	2: 157,071,975 (GRCm39)	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,470,033 (GRCm39)	D1255E	possibly damaging	Het
Nckap5	C	T	1: 125,952,659 (GRCm39)	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,081,723 (GRCm39)	K668E	probably damaging	Het
Nod2	T	C	8: 89,391,217 (GRCm39)	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,450,016 (GRCm39)	M97V	possibly damaging	Het
Nsd3	G	A	8: 26,188,795 (GRCm39)	V43M	probably damaging	Het
Nubp2	A	G	17: 25,103,388 (GRCm39)	V163A	probably damaging	Het
Oas1e	A	T	5: 120,926,054 (GRCm39)	F338Y	probably damaging	Het
Oat	C	A	7: 132,165,998 (GRCm39)	G196C	probably damaging	Het
Or4a69	C	T	2: 89,312,897 (GRCm39)	G194D	probably damaging	Het
Or52e8b	A	T	7: 104,673,971 (GRCm39)	L72Q	probably damaging	Het
Or7a41	T	C	10: 78,871,398 (GRCm39)	L256P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Phf8-ps	A	G	17: 33,286,215 (GRCm39)	S196P	probably damaging	Het
Pja2	C	A	17: 64,616,217 (GRCm39)	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,468,427 (GRCm39)	S332P	probably damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Prdm10	A	G	9: 31,268,582 (GRCm39)	T844A	probably damaging	Het
Ripk1	C	T	13: 34,212,130 (GRCm39)	P480L	probably benign	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,801 (GRCm39)	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,126,110 (GRCm39)	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,349,681 (GRCm39)	L23S	probably benign	Het
Setd5	T	A	6: 113,098,699 (GRCm39)	F758L	probably damaging	Het
Smlr1	C	A	10: 25,411,976 (GRCm39)	V4L	possibly damaging	Het
Snx1	T	C	9: 66,016,825 (GRCm39)	D34G	probably damaging	Het
Spaca5	A	T	X: 20,942,892 (GRCm39)	T92S	probably benign	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Swi5	C	A	2: 32,170,716 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,012,874 (GRCm39)	D2689E	probably benign	Het
Tcof1	T	A	18: 60,948,071 (GRCm39)	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,872,069 (GRCm39)	T49I	probably damaging	Het
Tmx3	T	A	18: 90,555,210 (GRCm39)	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,006,506 (GRCm39)	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,536,989 (GRCm39)	H248Q	probably benign	Het
Ttn	T	C	2: 76,567,412 (GRCm39)	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 139,613,696 (GRCm39)		probably benign	Het
Vwf	A	C	6: 125,585,254 (GRCm39)	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,407,828 (GRCm39)	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,897,292 (GRCm39)	D219G	probably benign	Het
Zc3h6	C	T	2: 128,858,989 (GRCm39)	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,784,050 (GRCm39)		probably null	Het
Zfp369	T	A	13: 65,439,979 (GRCm39)	I221N	probably damaging	Het
Zfp655	A	T	5: 145,181,411 (GRCm39)	N423I	probably damaging	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
R0481:Abcg4	UTSW	9	44,190,666 (GRCm39)	missense	probably benign	0.07
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
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'- AGCAACCTCCCAGCAGTCTTTG -3'
(R):5'- TGTGCCATGTCTGATGTCTGCC -3'

Sequencing Primer
(F):5'- TGCATCAACTTGGGAAGACTC -3'
(R):5'- GATGTCTGCCCCTTGTAACC -3'

Posted On

2014-04-13