Incidental Mutation 'IGL02506:Abcg8'
ID296341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg8
Ensembl Gene ENSMUSG00000024254
Gene NameATP binding cassette subfamily G member 8
Synonyms1300003C16Rik, Sterolin-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02506
Quality Score
Status
Chromosome17
Chromosomal Location84676302-84700333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84692488 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 189 (E189G)
Ref Sequence ENSEMBL: ENSMUSP00000126675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000170725] [ENSMUST00000171915]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045714
AA Change: E190G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: E190G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000170725
AA Change: E63G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: E63G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000171915
AA Change: E189G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: E189G

DomainStartEndE-ValueType
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
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 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. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 104,091,732 probably null Het
Adcy7 G T 8: 88,317,943 R488L probably damaging Het
Akt1 C T 12: 112,659,280 probably benign Het
Ano9 C T 7: 141,102,254 probably benign Het
Arhgap15 A G 2: 44,063,808 D182G possibly damaging Het
Asxl3 T A 18: 22,452,399 V127D probably benign Het
Cacna1g A G 11: 94,429,129 M1407T probably damaging Het
Card9 A C 2: 26,354,415 probably benign Het
Cdh5 A G 8: 104,137,822 N472D probably damaging Het
Ceacam2 T A 7: 25,527,954 T343S probably benign Het
Cic T A 7: 25,290,857 C1928S probably benign Het
Clk3 C T 9: 57,754,644 W31* probably null Het
Cntn4 A G 6: 106,618,388 T489A probably benign Het
Crispld1 G A 1: 17,756,305 R431H probably damaging Het
Crmp1 T A 5: 37,278,855 probably benign Het
Cyld A G 8: 88,729,590 T423A possibly damaging Het
Cyp3a44 A T 5: 145,799,388 I84N probably damaging Het
D2hgdh A G 1: 93,829,785 N141D probably damaging Het
Dip2b T A 15: 100,157,281 L341Q probably damaging Het
F3 C T 3: 121,731,674 T53I possibly damaging Het
Fam227b T A 2: 126,003,911 Y386F probably benign Het
Fmn1 A T 2: 113,525,295 T694S unknown Het
Gcnt2 T A 13: 40,887,380 V5E probably benign Het
Herpud1 G T 8: 94,394,642 E355* probably null Het
Igf1r T C 7: 68,193,396 S752P probably benign Het
Iqsec1 T C 6: 90,672,075 I687V possibly damaging Het
Kdm5a T C 6: 120,432,149 S1598P probably damaging Het
Klk9 A G 7: 43,795,639 E185G probably benign Het
Myo16 G T 8: 10,390,217 R423L probably damaging Het
Myo7b T C 18: 31,967,154 E1609G probably damaging Het
Nom1 T A 5: 29,439,816 probably benign Het
Nomo1 A G 7: 46,078,056 I1040V possibly damaging Het
Olfr887 G A 9: 38,085,445 G203D probably damaging Het
Paqr9 T C 9: 95,560,695 V246A probably benign Het
Pfkfb4 A T 9: 109,030,336 D437V probably benign Het
Phldb1 G T 9: 44,710,926 D797E probably benign Het
Pkd1l3 A G 8: 109,647,500 E1399G probably damaging Het
Plekhs1 G A 19: 56,471,766 C97Y probably damaging Het
Plscr4 A T 9: 92,489,991 I272L possibly damaging Het
Prlhr A C 19: 60,467,928 Y67D probably damaging Het
Rab3gap2 A G 1: 185,252,024 probably benign Het
Rad23b T C 4: 55,382,511 V238A probably benign Het
Sel1l2 T C 2: 140,275,460 T164A possibly damaging Het
Serpinh1 T A 7: 99,346,992 K295M probably damaging Het
Slc45a4 T C 15: 73,581,838 E770G probably benign Het
Spag4 T C 2: 156,069,222 L390P probably damaging Het
Stip1 A G 19: 7,035,489 probably benign Het
Tacr1 A G 6: 82,403,758 N50S probably damaging Het
Tg T C 15: 66,741,594 V433A possibly damaging Het
Ubap1l T A 9: 65,369,211 probably benign Het
Usp40 A T 1: 87,982,016 I572K probably damaging Het
Vps13b G T 15: 35,917,162 E3717D probably damaging Het
Wdr81 T C 11: 75,444,406 N1778S probably benign Het
Ylpm1 T A 12: 85,049,191 F1162Y probably damaging Het
Zbtb10 T A 3: 9,265,237 F552I probably damaging Het
Zfp507 T C 7: 35,776,466 I811V probably damaging Het
Zfp663 A T 2: 165,353,951 V116D probably benign Het
Other mutations in Abcg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Abcg8 APN 17 84688529 splice site probably null
IGL01019:Abcg8 APN 17 84691995 missense probably benign 0.21
IGL02498:Abcg8 APN 17 84683265 missense probably benign
IGL03077:Abcg8 APN 17 84691880 missense probably damaging 1.00
R0086:Abcg8 UTSW 17 84692771 missense probably damaging 1.00
R0130:Abcg8 UTSW 17 84686666 missense probably damaging 1.00
R0930:Abcg8 UTSW 17 84683277 missense probably benign 0.00
R1466:Abcg8 UTSW 17 84686727 splice site probably benign
R1493:Abcg8 UTSW 17 84696679 missense probably damaging 1.00
R1628:Abcg8 UTSW 17 84691991 nonsense probably null
R1916:Abcg8 UTSW 17 84688530 critical splice acceptor site probably null
R1935:Abcg8 UTSW 17 84694989 splice site probably benign
R1971:Abcg8 UTSW 17 84695159 splice site probably benign
R4638:Abcg8 UTSW 17 84691941 missense probably damaging 1.00
R4693:Abcg8 UTSW 17 84696697 missense probably damaging 1.00
R5182:Abcg8 UTSW 17 84692744 missense probably damaging 1.00
R5227:Abcg8 UTSW 17 84691821 missense probably damaging 1.00
R5621:Abcg8 UTSW 17 84695993 missense probably damaging 0.96
R5772:Abcg8 UTSW 17 84686699 missense probably damaging 1.00
R7315:Abcg8 UTSW 17 84696714 missense probably damaging 0.99
R7709:Abcg8 UTSW 17 84692491 missense probably damaging 0.99
R7951:Abcg8 UTSW 17 84697529 missense probably damaging 1.00
R8231:Abcg8 UTSW 17 84692785 missense probably damaging 1.00
Z1177:Abcg8 UTSW 17 84692006 missense possibly damaging 0.95
Z1177:Abcg8 UTSW 17 84695030 nonsense probably null
Z1177:Abcg8 UTSW 17 84696118 missense probably damaging 1.00
Posted On2015-04-16