Incidental Mutation 'IGL01138:Abcg5'
ID53116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg5
Ensembl Gene ENSMUSG00000040505
Gene NameATP binding cassette subfamily G member 5
SynonymsSterolin-1, cmp, trac
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #IGL01138
Quality Score
Status
Chromosome17
Chromosomal Location84658234-84683011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84664847 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 499 (R499S)
Ref Sequence ENSEMBL: ENSMUSP00000069495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066175] [ENSMUST00000163375]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066175
AA Change: R499S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: R499S

DomainStartEndE-ValueType
AAA 79 271 2.28e-11 SMART
Pfam:ABC2_membrane 367 581 1.3e-24 PFAM
transmembrane domain 621 643 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163375
AA Change: R327S

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: R327S

DomainStartEndE-ValueType
Pfam:ABC_tran 1 134 7.8e-17 PFAM
Pfam:ABC2_membrane 195 409 1.4e-23 PFAM
transmembrane domain 449 471 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Fam84b T A 15: 60,823,118 I260F probably damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Guca1a C A 17: 47,400,384 E12D probably damaging Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Pnmal2 C A 7: 16,945,163 T24K unknown Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Serpina5 A G 12: 104,103,744 Y300C possibly damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Sos2 C T 12: 69,616,849 probably benign Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Abcg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Abcg5 APN 17 84682025 missense probably damaging 1.00
IGL02002:Abcg5 APN 17 84682051 nonsense probably null
IGL02116:Abcg5 APN 17 84673590 missense possibly damaging 0.67
IGL02339:Abcg5 APN 17 84673604 missense possibly damaging 0.95
IGL02568:Abcg5 APN 17 84670399 missense probably damaging 0.99
PIT4142001:Abcg5 UTSW 17 84673594 missense possibly damaging 0.59
R0539:Abcg5 UTSW 17 84669075 missense probably benign 0.01
R1104:Abcg5 UTSW 17 84682049 missense possibly damaging 0.78
R1795:Abcg5 UTSW 17 84673579 missense probably damaging 1.00
R1956:Abcg5 UTSW 17 84670375 missense probably damaging 1.00
R1970:Abcg5 UTSW 17 84673602 frame shift probably null
R2007:Abcg5 UTSW 17 84669920 missense probably damaging 1.00
R2118:Abcg5 UTSW 17 84671147 missense probably benign 0.06
R2120:Abcg5 UTSW 17 84671147 missense probably benign 0.06
R2121:Abcg5 UTSW 17 84671147 missense probably benign 0.06
R2122:Abcg5 UTSW 17 84671147 missense probably benign 0.06
R2124:Abcg5 UTSW 17 84671147 missense probably benign 0.06
R2858:Abcg5 UTSW 17 84670220 critical splice donor site probably null
R3121:Abcg5 UTSW 17 84658663 missense probably benign 0.33
R4694:Abcg5 UTSW 17 84672158 missense probably damaging 1.00
R4835:Abcg5 UTSW 17 84658648 missense possibly damaging 0.95
R4963:Abcg5 UTSW 17 84660141 nonsense probably null
R5187:Abcg5 UTSW 17 84658564 missense probably damaging 1.00
R5348:Abcg5 UTSW 17 84671206 missense possibly damaging 0.92
R5445:Abcg5 UTSW 17 84671129 missense probably damaging 1.00
R5580:Abcg5 UTSW 17 84660154 missense probably damaging 1.00
R5807:Abcg5 UTSW 17 84672291 missense probably damaging 0.99
R6007:Abcg5 UTSW 17 84668964 missense probably benign 0.01
Posted On2013-06-21