Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Abcg4'

215481

Institutional Source

Beutler Lab

Gene Symbol

Abcg4

Ensembl Gene

ENSMUSG00000032131

Gene Name

ATP binding cassette subfamily G member 4

Synonyms

6430517O04Rik

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

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

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44184485-44199912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44190691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 278 (Q278H)

Ref Sequence

ENSEMBL: ENSMUSP00000124647 (fasta)

Gene Model

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

AlphaFold

Q91WA9

Predicted Effect

probably benign
Transcript: ENSMUST00000034648
AA Change: Q278H

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: Q278H

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: Q30H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131
AA Change: Q30H

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: Q278H

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: Q278H

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,743,146 (GRCm39)	F508L	probably damaging	Het
Hdac5	T	A	11: 102,086,698 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,375,977 (GRCm39)	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,225,923 (GRCm39)	T998A	probably damaging	Het
Kcna6	G	T	6: 126,715,451 (GRCm39)	H479Q	probably benign	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	possibly 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
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
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'- AATGAGCTCTCTGTCCCCAAG -3'
(R):5'- TGTCCCTCATGAAGTCCCTG -3'

Sequencing Primer
(F):5'- TCTGTCCCCAAGAGGCCTC -3'
(R):5'- TCATGAAGTCCCTGGCCCATG -3'

Posted On

2014-07-14