Incidental Mutation 'IGL02506:Abcg8'
ID 296341
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 # IGL02506
Quality Score
Status
Chromosome 17
Chromosomal Location 84983730-85007761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84999916 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DBM0
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: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign 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
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 2015-04-16