Incidental Mutation 'IGL03077:Abcg8'
ID 417735
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 # IGL03077
Quality Score
Status
Chromosome 17
Chromosomal Location 84983730-85007761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84999308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 135 (N135D)
Ref Sequence ENSEMBL: ENSMUSP00000126675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045714] [ENSMUST00000170725] [ENSMUST00000171915]
AlphaFold Q9DBM0
Predicted Effect probably damaging
Transcript: ENSMUST00000045714
AA Change: N136D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: N136D

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 damaging
Transcript: ENSMUST00000170725
AA Change: N9D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: N9D

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 damaging
Transcript: ENSMUST00000171915
AA Change: N135D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: N135D

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak4 T C 4: 101,277,148 (GRCm39) L44P probably damaging Het
Angpt1 C A 15: 42,339,818 (GRCm39) G298* probably null Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Ftcd T C 10: 76,417,461 (GRCm39) I300T probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Klrb1f A T 6: 129,030,765 (GRCm39) E92V probably null Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Psmd7 T C 8: 108,309,099 (GRCm39) T149A probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Abcg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Abcg8 APN 17 84,995,957 (GRCm39) splice site probably null
IGL01019:Abcg8 APN 17 84,999,423 (GRCm39) missense probably benign 0.21
IGL02498:Abcg8 APN 17 84,990,693 (GRCm39) missense probably benign
IGL02506:Abcg8 APN 17 84,999,916 (GRCm39) missense possibly damaging 0.84
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 2016-08-02