Incidental Mutation 'IGL01019:Abcg8'
ID54057
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 #IGL01019
Quality Score
Status
Chromosome17
Chromosomal Location84676302-84700333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84691995 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 173 (M173T)
Ref Sequence ENSEMBL: ENSMUSP00000126675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000170725] [ENSMUST00000171915]
AlphaFold Q9DBM0
Predicted Effect probably benign
Transcript: ENSMUST00000045714
AA Change: M174T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: M174T

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 probably benign
Transcript: ENSMUST00000170725
AA Change: M47T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: M47T

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 probably benign
Transcript: ENSMUST00000171915
AA Change: M173T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: M173T

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 37,006,984 probably null Het
9930022D16Rik T C 11: 109,417,911 probably benign Het
Aatk T C 11: 120,012,275 S375G probably benign Het
B3galt2 A C 1: 143,646,757 R210S probably benign Het
Capn5 C T 7: 98,135,764 A168T probably damaging Het
Cbx7 C T 15: 79,930,628 G24D probably damaging Het
Ccdc7a A T 8: 129,061,618 S77T probably benign Het
Cd200r2 T A 16: 44,909,469 probably benign Het
Cdh11 T C 8: 102,679,745 H32R probably benign Het
Chdh A T 14: 30,031,332 N66I probably benign Het
Clca3a2 G A 3: 144,813,627 Q263* probably null Het
Dcc T C 18: 71,809,090 I319V probably benign Het
Depdc5 G T 5: 32,893,401 M170I probably damaging Het
Dopey2 T A 16: 93,810,229 L2140Q probably benign Het
Frem3 G A 8: 80,615,134 G1352E probably benign Het
Fsd1l T A 4: 53,694,742 C389S probably damaging Het
Grin2c C T 11: 115,258,110 A221T possibly damaging Het
Gstz1 C A 12: 87,163,801 P153T probably damaging Het
Itgb2 T C 10: 77,542,403 S22P possibly damaging Het
Krt87 G T 15: 101,438,431 Q114K possibly damaging Het
Krtap5-4 A C 7: 142,303,910 S106R unknown Het
Lats1 T C 10: 7,705,671 V740A probably damaging Het
Mcm9 C A 10: 53,629,945 G78C probably damaging Het
Mn1 G A 5: 111,421,547 E1128K possibly damaging Het
Myo1f G A 17: 33,593,003 R592H possibly damaging Het
Nfat5 G T 8: 107,367,514 A277S probably damaging Het
Nfkbia T A 12: 55,490,542 Y254F probably damaging Het
Nr3c2 A T 8: 76,909,214 N315Y probably damaging Het
Otof T C 5: 30,405,216 M258V probably benign Het
Panx3 C T 9: 37,661,471 C261Y probably damaging Het
Pdia2 C A 17: 26,198,922 G38W probably damaging Het
Psg19 G T 7: 18,794,046 Y257* probably null Het
Ptpre A T 7: 135,678,325 K586* probably null Het
Reps1 A G 10: 18,124,895 R752G probably damaging Het
Rpgrip1 T A 14: 52,131,176 D277E possibly damaging Het
Rpl21-ps6 A G 17: 55,915,671 noncoding transcript Het
Serpinf2 T A 11: 75,436,507 E198V possibly damaging Het
Sh3tc1 A G 5: 35,703,375 L1046P probably damaging Het
Snw1 T C 12: 87,450,941 E426G probably benign Het
Sord T A 2: 122,264,083 N317K probably benign Het
Taar3 A T 10: 23,950,432 D292V probably damaging Het
Tdrd3 C A 14: 87,472,182 T94K probably damaging Het
Ttn C A 2: 76,856,821 E736* probably null Het
Usp32 A G 11: 85,039,265 V562A probably damaging Het
Vmn1r169 T G 7: 23,577,186 M1R probably null Het
Vmn2r3 C T 3: 64,259,883 C609Y probably damaging Het
Vmn2r69 T C 7: 85,406,531 T800A probably benign Het
Vmn2r72 G A 7: 85,738,334 T674I probably benign Het
Zfp160 T A 17: 21,020,826 M52K possibly damaging Het
Zfp607a T A 7: 27,878,617 C371S probably damaging Het
Other mutations in Abcg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Abcg8 APN 17 84688529 splice site probably null
IGL02498:Abcg8 APN 17 84683265 missense probably benign
IGL02506:Abcg8 APN 17 84692488 missense possibly damaging 0.84
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
R8947:Abcg8 UTSW 17 84691818 missense probably damaging 1.00
R9004:Abcg8 UTSW 17 84697362 missense probably benign 0.38
R9108:Abcg8 UTSW 17 84692815 missense probably benign
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 On2013-06-28