Incidental Mutation 'IGL01019:Abcg8'
ID 54057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg8
Ensembl Gene ENSMUSG00000024254
Gene Name ATP binding cassette subfamily G member 8
Synonyms Sterolin-2, 1300003C16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01019
Quality Score
Status
Chromosome 17
Chromosomal Location 84983730-85007761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84999423 bp (GRCm39)
Zygosity Heterozygous
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
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Abcg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Abcg8 APN 17 84,995,957 (GRCm39) splice site probably null
IGL02498:Abcg8 APN 17 84,990,693 (GRCm39) missense probably benign
IGL02506:Abcg8 APN 17 84,999,916 (GRCm39) missense possibly damaging 0.84
IGL03077:Abcg8 APN 17 84,999,308 (GRCm39) missense probably damaging 1.00
R0086:Abcg8 UTSW 17 85,000,199 (GRCm39) missense probably damaging 1.00
R0130:Abcg8 UTSW 17 84,994,094 (GRCm39) missense probably damaging 1.00
R0930:Abcg8 UTSW 17 84,990,705 (GRCm39) missense probably benign 0.00
R1466:Abcg8 UTSW 17 84,994,155 (GRCm39) splice site probably benign
R1493:Abcg8 UTSW 17 85,004,107 (GRCm39) missense probably damaging 1.00
R1628:Abcg8 UTSW 17 84,999,419 (GRCm39) nonsense probably null
R1916:Abcg8 UTSW 17 84,995,958 (GRCm39) critical splice acceptor site probably null
R1935:Abcg8 UTSW 17 85,002,417 (GRCm39) splice site probably benign
R1971:Abcg8 UTSW 17 85,002,587 (GRCm39) splice site probably benign
R4638:Abcg8 UTSW 17 84,999,369 (GRCm39) missense probably damaging 1.00
R4693:Abcg8 UTSW 17 85,004,125 (GRCm39) missense probably damaging 1.00
R5182:Abcg8 UTSW 17 85,000,172 (GRCm39) missense probably damaging 1.00
R5227:Abcg8 UTSW 17 84,999,249 (GRCm39) missense probably damaging 1.00
R5621:Abcg8 UTSW 17 85,003,421 (GRCm39) missense probably damaging 0.96
R5772:Abcg8 UTSW 17 84,994,127 (GRCm39) missense probably damaging 1.00
R7315:Abcg8 UTSW 17 85,004,142 (GRCm39) missense probably damaging 0.99
R7709:Abcg8 UTSW 17 84,999,919 (GRCm39) missense probably damaging 0.99
R7951:Abcg8 UTSW 17 85,004,957 (GRCm39) missense probably damaging 1.00
R8231:Abcg8 UTSW 17 85,000,213 (GRCm39) missense probably damaging 1.00
R8947:Abcg8 UTSW 17 84,999,246 (GRCm39) missense probably damaging 1.00
R9004:Abcg8 UTSW 17 85,004,790 (GRCm39) missense probably benign 0.38
R9108:Abcg8 UTSW 17 85,000,243 (GRCm39) missense probably benign
R9396:Abcg8 UTSW 17 85,000,282 (GRCm39) missense probably damaging 1.00
Z1177:Abcg8 UTSW 17 85,002,458 (GRCm39) nonsense probably null
Z1177:Abcg8 UTSW 17 84,999,434 (GRCm39) missense possibly damaging 0.95
Z1177:Abcg8 UTSW 17 85,003,546 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28