Mutagenetix > Incidental Mutation

Incidental Mutation 'R8871:Abcg5'

676329

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

068685-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R8871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84965662-84990439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84990295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 3 (E3K)

Ref Sequence

ENSEMBL: ENSMUSP00000069495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000066175] [ENSMUST00000163375] [ENSMUST00000170725] [ENSMUST00000171915]

AlphaFold

Q99PE8

Predicted Effect

probably benign
Transcript: ENSMUST00000045714

SMART Domains

Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	89	242	2.1e-29	PFAM
Pfam:ABC2_membrane	397	608	1.7e-36	PFAM
transmembrane domain	640	662	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066175
AA Change: E3K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: E3K

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

probably benign
Transcript: ENSMUST00000163375

SMART Domains

Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170725

SMART Domains

Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	1	115	2.6e-18	PFAM
Pfam:ABC2_membrane	270	481	7.4e-38	PFAM
transmembrane domain	513	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171915

SMART Domains

Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	88	241	7.5e-30	PFAM
Pfam:ABC2_membrane	396	607	1.7e-37	PFAM
transmembrane domain	639	661	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,248,071 (GRCm39)	M2606R	probably benign	Het
Adam20	A	C	8: 41,248,601 (GRCm39)	H237P	probably damaging	Het
Alg3	T	C	16: 20,424,684 (GRCm39)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,931,944 (GRCm39)	Y752N	probably benign	Het
AW551984	A	T	9: 39,500,998 (GRCm39)	L759*	probably null	Het
Bdp1	A	C	13: 100,186,175 (GRCm39)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,885,777 (GRCm39)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,857,285 (GRCm39)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,164,989 (GRCm39)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,494,827 (GRCm39)	I945K	probably benign	Het
Celf1	A	G	2: 90,840,840 (GRCm39)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col14a1	T	G	15: 55,245,958 (GRCm39)	D487E	unknown	Het
Crybg3	T	C	16: 59,378,519 (GRCm39)	N912D	probably benign	Het
Cstl1	A	G	2: 148,596,554 (GRCm39)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,595,096 (GRCm39)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 130,718,597 (GRCm39)	Y1773H	unknown	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Fbln2	A	T	6: 91,233,215 (GRCm39)		probably null	Het
Fbxo16	A	G	14: 65,531,348 (GRCm39)	E84G	probably damaging	Het
Fras1	T	A	5: 96,855,257 (GRCm39)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,082,896 (GRCm39)	H85R	probably damaging	Het
Galc	A	T	12: 98,212,543 (GRCm39)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm39)		probably null	Het
Gm10220	T	A	5: 26,322,863 (GRCm39)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,760,109 (GRCm39)	T215A	probably damaging	Het
Hnrnpf	T	G	6: 117,900,811 (GRCm39)	S32A	probably benign	Het
Hspa1l	T	C	17: 35,197,799 (GRCm39)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,144,424 (GRCm39)	V37D	probably benign	Het
Itga11	C	A	9: 62,668,823 (GRCm39)	Y693*	probably null	Het
Itgax	T	A	7: 127,735,223 (GRCm39)	F459L	probably damaging	Het
Jph1	A	G	1: 17,067,719 (GRCm39)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,083,500 (GRCm39)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,410,044 (GRCm39)	Y176*	probably null	Het
Kif13a	T	C	13: 46,984,279 (GRCm39)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,326,871 (GRCm39)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,783,435 (GRCm39)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,347,375 (GRCm39)	M3107V	unknown	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,552 (GRCm39)		probably benign	Het
Muc16	C	A	9: 18,567,344 (GRCm39)	G1725V	unknown	Het
Myo5c	T	C	9: 75,185,585 (GRCm39)	S983P	probably benign	Het
Naip1	G	A	13: 100,580,146 (GRCm39)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,781,968 (GRCm39)		probably benign	Het
Nrl	A	T	14: 55,758,184 (GRCm39)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,067,545 (GRCm39)	*261R	probably null	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,349,536 (GRCm39)	I45V		Het
Or8j3c	T	C	2: 86,253,697 (GRCm39)	M108V	probably benign	Het
Oscp1	T	A	4: 125,952,535 (GRCm39)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,064,763 (GRCm39)	V34I	probably benign	Het
Pdzph1	A	G	17: 59,195,033 (GRCm39)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,900,503 (GRCm39)	S463C		Het
Pnpla3	G	A	15: 84,063,509 (GRCm39)	E296K	probably benign	Het
Prss35	T	G	9: 86,637,244 (GRCm39)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,164,096 (GRCm39)	E336G	possibly damaging	Het
Rgl2	G	A	17: 34,153,974 (GRCm39)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,557,156 (GRCm39)	N468K	probably benign	Het
Rptor	T	A	11: 119,494,751 (GRCm39)	I39N	probably benign	Het
S1pr1	A	G	3: 115,505,628 (GRCm39)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 31,800,544 (GRCm39)	Y44*	probably null	Het
Setx	A	G	2: 29,038,114 (GRCm39)	D1533G	probably benign	Het
Sf3b1	A	G	1: 55,029,508 (GRCm39)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 38,420,103 (GRCm39)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,305,817 (GRCm39)	P227Q		Het
She	T	C	3: 89,759,795 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,642,015 (GRCm39)	I328T	probably damaging	Het
Sort1	G	A	3: 108,262,887 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,091,595 (GRCm39)	S977P	probably benign	Het
Srsf9	T	C	5: 115,468,712 (GRCm39)	V116A	probably damaging	Het
Tex15	G	A	8: 34,066,992 (GRCm39)	V2141I	possibly damaging	Het
Tmprss13	A	T	9: 45,249,704 (GRCm39)	H347L	probably damaging	Het
Trpv4	A	G	5: 114,768,511 (GRCm39)	F519S	probably benign	Het
Trrap	A	G	5: 144,758,649 (GRCm39)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,693,442 (GRCm39)	Y144*	probably null	Het
Vmn2r10	A	G	5: 109,146,899 (GRCm39)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,641,186 (GRCm39)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,343,919 (GRCm39)	Y449*	probably null	Het
Zfhx3	A	G	8: 109,676,867 (GRCm39)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 149,959,995 (GRCm39)	V131A	probably benign	Het
Zfp574	G	T	7: 24,780,562 (GRCm39)	C528F	probably damaging	Het
Zfp947	A	T	17: 22,364,695 (GRCm39)	N326K	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
R8103:Abcg5	UTSW	17	84,965,956 (GRCm39)	missense	possibly damaging	0.49
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
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'- TTCACCCTGATCTGCTGGAC -3'
(R):5'- AGGTACATCAGATAATGGCATCG -3'

Sequencing Primer
(F):5'- GCAATCAGAGAGCCTAGCTTTTTGC -3'
(R):5'- CATCGTTGGCCAAATTGGTGAAC -3'

Posted On

2021-07-15