Incidental Mutation 'IGL02568:Abcg5'
ID298913
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: 0.214) question?
Stock #IGL02568
Quality Score
Status
Chromosome17
Chromosomal Location84658234-84683011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84670399 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 143 (R143Q)
Ref Sequence ENSEMBL: ENSMUSP00000130783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066175] [ENSMUST00000163375]
Predicted Effect probably damaging
Transcript: ENSMUST00000066175
AA Change: R315Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: R315Q

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 probably damaging
Transcript: ENSMUST00000163375
AA Change: R143Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: R143Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172439
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,148,981 probably benign Het
Arap3 G A 18: 37,996,658 T150I probably benign Het
Arhgap32 T C 9: 32,247,194 V175A probably damaging Het
Bpifb3 A G 2: 153,924,801 E208G probably benign Het
C2 T A 17: 34,864,349 D518V possibly damaging Het
C6 T A 15: 4,791,164 C552* probably null Het
Ccdc38 A T 10: 93,579,823 D447V probably damaging Het
Cept1 C T 3: 106,503,719 R386H probably benign Het
Comt A G 16: 18,411,704 V85A probably damaging Het
Ddx24 G T 12: 103,417,312 L627I probably damaging Het
Efemp1 T C 11: 28,916,971 probably null Het
Etf1 T C 18: 34,913,661 T99A possibly damaging Het
Fhad1 T C 4: 141,932,794 E68G probably null Het
Fzd3 C A 14: 65,235,940 probably benign Het
Gins3 T C 8: 95,637,978 F119L probably benign Het
Golga5 G T 12: 102,472,079 V18L probably benign Het
Il16 C A 7: 83,661,276 R474M probably damaging Het
Itpr1 C A 6: 108,339,554 Q71K possibly damaging Het
Kif21b T G 1: 136,172,867 L1562R probably damaging Het
Lamc2 T C 1: 153,166,262 E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 L35R probably benign Het
Naip6 C A 13: 100,316,272 G94W probably damaging Het
Nccrp1 G A 7: 28,544,480 A226V probably damaging Het
Nckap5l A G 15: 99,425,683 Y980H probably damaging Het
Ncoa3 T C 2: 166,069,357 S1345P probably damaging Het
Nop2 T C 6: 125,140,850 S455P probably damaging Het
Nup93 T C 8: 94,309,635 F689S probably damaging Het
Olfr1466 T C 19: 13,342,219 F154L probably benign Het
Plekhm1 T A 11: 103,395,050 E186D probably damaging Het
Plxdc1 T C 11: 97,978,564 Q66R probably damaging Het
Prkdc T G 16: 15,726,542 Y1799D probably damaging Het
Rasa2 A G 9: 96,580,510 F220L probably damaging Het
Rftn1 T C 17: 50,036,999 D87G probably damaging Het
Rgs6 C T 12: 83,070,602 T266M probably benign Het
Sec16a A G 2: 26,436,042 Y1208H probably damaging Het
Slc12a1 G T 2: 125,184,728 V428L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T A 4: 58,135,441 T556S probably benign Het
Tanc2 T A 11: 105,776,951 N119K probably benign Het
Tpgs1 T A 10: 79,669,404 probably benign Het
Tpm3-rs7 A G 14: 113,314,938 E88G probably damaging Het
Tsr1 T C 11: 74,900,378 V261A probably benign Het
Usp18 C T 6: 121,261,091 T143I probably benign Het
Vmn2r24 T C 6: 123,815,853 I713T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Abcg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Abcg5 APN 17 84664847 missense possibly damaging 0.73
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
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 On2015-04-16