Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Abcg5'

630616

Institutional Source

Beutler Lab

Gene Symbol

Abcg5

Ensembl Gene

ENSMUSG00000040505

Gene Name

ATP binding cassette subfamily G member 5

Synonyms

trac, Sterolin-1, cmp

MMRRC Submission

067534-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84965662-84990439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84965956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 640 (I640K)

Ref Sequence

ENSEMBL: ENSMUSP00000069495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025101] [ENSMUST00000066175] [ENSMUST00000163375]

AlphaFold

Q99PE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025101

SMART Domains

Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253

Domain	Start	End	E-Value	Type
Pfam:DLIC	2	179	3.3e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066175
AA Change: I640K

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: I640K

Domain	Start	End	E-Value	Type
AAA	79	271	2.28e-11	SMART
Pfam:ABC2_membrane	367	581	1.3e-24	PFAM
transmembrane domain	621	643	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163375
AA Change: I468K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: I468K

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	1	134	7.8e-17	PFAM
Pfam:ABC2_membrane	195	409	1.4e-23	PFAM
transmembrane domain	449	471	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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). This protein is a member of the White subfamily, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,668 (GRCm39)	D216G	probably benign	Het
Acadvl	T	C	11: 69,905,168 (GRCm39)	K128R	probably benign	Het
Angptl7	T	A	4: 148,581,018 (GRCm39)	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,586,997 (GRCm39)	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,165,198 (GRCm39)	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,504,177 (GRCm39)	T376A		Het
Atf6b	T	G	17: 34,872,949 (GRCm39)	S622A	probably damaging	Het
Atp5pd	T	A	11: 115,306,851 (GRCm39)	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,822,369 (GRCm39)	L307P	probably damaging	Het
B4galnt4	C	T	7: 140,644,564 (GRCm39)	T153M	possibly damaging	Het
Brd8	A	G	18: 34,740,231 (GRCm39)	V604A	probably benign	Het
Ccser2	T	C	14: 36,618,240 (GRCm39)	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,110,006 (GRCm39)	D433G	probably damaging	Het
Cep85l	T	G	10: 53,175,420 (GRCm39)		probably null	Het
Ciao3	A	G	17: 25,996,395 (GRCm39)	T135A	probably benign	Het
Col23a1	T	A	11: 51,461,014 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,804,452 (GRCm39)	D2261G	unknown	Het
Comp	C	A	8: 70,833,936 (GRCm39)	N650K	probably damaging	Het
Copb1	A	G	7: 113,834,202 (GRCm39)	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,897,009 (GRCm39)	S743T	probably damaging	Het
Ddx39a	A	G	8: 84,451,105 (GRCm39)		probably null	Het
Dgkb	A	G	12: 38,186,580 (GRCm39)	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,416,171 (GRCm39)	Y691D	probably damaging	Het
Duox2	C	T	2: 122,117,535 (GRCm39)	S933N	probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Edem1	G	A	6: 108,829,524 (GRCm39)	E548K	probably damaging	Het
Eif4a3l2	C	T	6: 116,528,468 (GRCm39)	T115I	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,839 (GRCm39)	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,658,453 (GRCm39)	N574K	probably benign	Het
Glb1l2	T	A	9: 26,676,980 (GRCm39)	M551L	probably benign	Het
Gm7694	G	T	1: 170,130,284 (GRCm39)	P38Q	probably damaging	Het
Grip1	A	G	10: 119,814,440 (GRCm39)	T324A	probably benign	Het
Htr3b	A	G	9: 48,857,849 (GRCm39)	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,148,106 (GRCm39)	C50R	probably damaging	Het
Il5ra	A	G	6: 106,692,611 (GRCm39)	I378T	possibly damaging	Het
Ints11	T	C	4: 155,972,687 (GRCm39)	L504P	possibly damaging	Het
Iqca1	A	T	1: 89,987,330 (GRCm39)	I74N		Het
Kbtbd12	C	T	6: 88,595,663 (GRCm39)	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,549,620 (GRCm39)	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,865,381 (GRCm39)	D815G	probably benign	Het
Lnpk	T	C	2: 74,352,599 (GRCm39)	Q361R	probably benign	Het
Mep1b	T	C	18: 21,222,442 (GRCm39)	I277T	possibly damaging	Het
Naip6	G	A	13: 100,437,851 (GRCm39)	T385I	probably benign	Het
Npepl1	A	T	2: 173,953,002 (GRCm39)	I95F	probably benign	Het
Nxpe4	T	C	9: 48,304,020 (GRCm39)	F36L	probably benign	Het
Optn	C	A	2: 5,045,013 (GRCm39)	C243F	probably damaging	Het
Or10al7	A	T	17: 38,365,903 (GRCm39)	C185S	probably damaging	Het
Or1e33	C	T	11: 73,738,735 (GRCm39)	C72Y	probably damaging	Het
Paqr7	T	C	4: 134,234,821 (GRCm39)	V226A	probably benign	Het
Pcdh12	T	A	18: 38,415,212 (GRCm39)	I638F	probably damaging	Het
Pfas	T	C	11: 68,883,119 (GRCm39)	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,706,944 (GRCm39)	H531L	probably benign	Het
Pom121l2	A	G	13: 22,166,544 (GRCm39)	T272A	probably benign	Het
Pparg	T	C	6: 115,450,102 (GRCm39)	V367A	possibly damaging	Het
Psen2	A	T	1: 180,068,356 (GRCm39)	M99K	probably damaging	Het
Ranbp10	T	C	8: 106,499,179 (GRCm39)	T536A	probably benign	Het
Rbfox2	G	T	15: 76,983,654 (GRCm39)	P284T	probably damaging	Het
Rbmyf9	C	T	Y: 3,776,675 (GRCm39)	T104I	possibly damaging	Het
Rere	G	A	4: 150,701,796 (GRCm39)	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,581,115 (GRCm39)	L119Q	probably null	Het
Rlig1	C	A	10: 100,413,110 (GRCm39)	V178F	probably benign	Het
Rreb1	A	G	13: 38,125,677 (GRCm39)	T1328A	probably benign	Het
Septin11	A	T	5: 93,309,007 (GRCm39)		probably null	Het
Skida1	T	A	2: 18,052,549 (GRCm39)	Q201L	probably benign	Het
Sptan1	T	A	2: 29,910,055 (GRCm39)	I1805N	probably damaging	Het
Stard13	T	A	5: 150,970,435 (GRCm39)	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916 (GRCm39)		probably null	Het
Szt2	T	A	4: 118,245,061 (GRCm39)	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 47,202,046 (GRCm39)	D144A	probably benign	Het
Tsn	A	G	1: 118,232,437 (GRCm39)	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121 (GRCm39)	T99S	probably damaging	Het
Vcan	T	A	13: 89,805,777 (GRCm39)	E3261V	probably damaging	Het
Vcan	C	A	13: 89,851,439 (GRCm39)	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,751,415 (GRCm39)		probably null	Het
Vmn2r65	A	G	7: 84,595,919 (GRCm39)	I255T	probably damaging	Het
Vps35l	T	C	7: 118,342,855 (GRCm39)	S47P	probably benign	Het
Wdr70	A	G	15: 8,006,612 (GRCm39)	L313P	possibly damaging	Het
Ythdf2	C	A	4: 131,932,089 (GRCm39)	R357L	probably damaging	Het
Zfp523	T	C	17: 28,420,267 (GRCm39)	C262R	probably damaging	Het
Zfp553	T	C	7: 126,835,936 (GRCm39)	V497A	probably benign	Het
Zhx1	A	G	15: 57,916,662 (GRCm39)	L528S	probably benign	Het

Other mutations in Abcg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Abcg5	APN	17	84,972,275 (GRCm39)	missense	possibly damaging	0.73
IGL01844:Abcg5	APN	17	84,989,453 (GRCm39)	missense	probably damaging	1.00
IGL02002:Abcg5	APN	17	84,989,479 (GRCm39)	nonsense	probably null
IGL02116:Abcg5	APN	17	84,981,018 (GRCm39)	missense	possibly damaging	0.67
IGL02339:Abcg5	APN	17	84,981,032 (GRCm39)	missense	possibly damaging	0.95
IGL02568:Abcg5	APN	17	84,977,827 (GRCm39)	missense	probably damaging	0.99
PIT4142001:Abcg5	UTSW	17	84,981,022 (GRCm39)	missense	possibly damaging	0.59
R0539:Abcg5	UTSW	17	84,976,503 (GRCm39)	missense	probably benign	0.01
R1104:Abcg5	UTSW	17	84,989,477 (GRCm39)	missense	possibly damaging	0.78
R1795:Abcg5	UTSW	17	84,981,007 (GRCm39)	missense	probably damaging	1.00
R1956:Abcg5	UTSW	17	84,977,803 (GRCm39)	missense	probably damaging	1.00
R1970:Abcg5	UTSW	17	84,981,030 (GRCm39)	frame shift	probably null
R2007:Abcg5	UTSW	17	84,977,348 (GRCm39)	missense	probably damaging	1.00
R2118:Abcg5	UTSW	17	84,978,575 (GRCm39)	missense	probably benign	0.06
R2120:Abcg5	UTSW	17	84,978,575 (GRCm39)	missense	probably benign	0.06
R2121:Abcg5	UTSW	17	84,978,575 (GRCm39)	missense	probably benign	0.06
R2122:Abcg5	UTSW	17	84,978,575 (GRCm39)	missense	probably benign	0.06
R2124:Abcg5	UTSW	17	84,978,575 (GRCm39)	missense	probably benign	0.06
R2858:Abcg5	UTSW	17	84,977,648 (GRCm39)	critical splice donor site	probably null
R3121:Abcg5	UTSW	17	84,966,091 (GRCm39)	missense	probably benign	0.33
R4694:Abcg5	UTSW	17	84,979,586 (GRCm39)	missense	probably damaging	1.00
R4835:Abcg5	UTSW	17	84,966,076 (GRCm39)	missense	possibly damaging	0.95
R4963:Abcg5	UTSW	17	84,967,569 (GRCm39)	nonsense	probably null
R5187:Abcg5	UTSW	17	84,965,992 (GRCm39)	missense	probably damaging	1.00
R5348:Abcg5	UTSW	17	84,978,634 (GRCm39)	missense	possibly damaging	0.92
R5445:Abcg5	UTSW	17	84,978,557 (GRCm39)	missense	probably damaging	1.00
R5580:Abcg5	UTSW	17	84,967,582 (GRCm39)	missense	probably damaging	1.00
R5807:Abcg5	UTSW	17	84,979,719 (GRCm39)	missense	probably damaging	0.99
R6007:Abcg5	UTSW	17	84,976,392 (GRCm39)	missense	probably benign	0.01
R7303:Abcg5	UTSW	17	84,977,774 (GRCm39)	missense	probably damaging	1.00
R7324:Abcg5	UTSW	17	84,983,667 (GRCm39)	missense	possibly damaging	0.82
R7639:Abcg5	UTSW	17	84,977,531 (GRCm39)	missense	probably benign
R7844:Abcg5	UTSW	17	84,981,018 (GRCm39)	missense	possibly damaging	0.67
R7996:Abcg5	UTSW	17	84,977,490 (GRCm39)	missense	probably damaging	1.00
R8083:Abcg5	UTSW	17	84,965,971 (GRCm39)	missense	probably damaging	1.00
R8258:Abcg5	UTSW	17	84,983,523 (GRCm39)	missense	possibly damaging	0.88
R8259:Abcg5	UTSW	17	84,983,523 (GRCm39)	missense	possibly damaging	0.88
R8831:Abcg5	UTSW	17	84,976,423 (GRCm39)	missense	probably damaging	1.00
R8871:Abcg5	UTSW	17	84,990,295 (GRCm39)	missense	probably benign	0.01
R8921:Abcg5	UTSW	17	84,990,253 (GRCm39)	missense	probably benign	0.01
R9074:Abcg5	UTSW	17	84,972,257 (GRCm39)	synonymous	silent
R9123:Abcg5	UTSW	17	84,976,425 (GRCm39)	missense	probably damaging	1.00
R9125:Abcg5	UTSW	17	84,976,425 (GRCm39)	missense	probably damaging	1.00
R9291:Abcg5	UTSW	17	84,976,380 (GRCm39)	missense	probably benign	0.07
Z1177:Abcg5	UTSW	17	84,983,699 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCCCACAAGCTGGAATAG -3'
(R):5'- GAGAGCTGACACTGCCTTTTC -3'

Sequencing Primer
(F):5'- CAGAGGGCTGTGAGTTCTC -3'
(R):5'- TCCTTGCAGGTGGATCCAACAC -3'

Posted On

2020-06-30