Incidental Mutation 'IGL00504:Slc10a2'
ID 5081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc10a2
Ensembl Gene ENSMUSG00000023073
Gene Name solute carrier family 10, member 2
Synonyms 9130221J18Rik, ASBT
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00504
Quality Score
Status
Chromosome 8
Chromosomal Location 5133219-5155287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5141668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 239 (S239C)
Ref Sequence ENSEMBL: ENSMUSP00000023835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023835]
AlphaFold P70172
Predicted Effect probably damaging
Transcript: ENSMUST00000023835
AA Change: S239C

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: S239C

DomainStartEndE-ValueType
Pfam:SBF 39 220 1e-47 PFAM
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 286 308 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.] This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially indistinguishable from wild-type in terms of survival, gross appearance and behavior. However, they do have defects in lipid absorption from the intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,296,629 (GRCm39) D168G probably damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Cela3b A T 4: 137,150,592 (GRCm39) V202E probably damaging Het
Col3a1 A G 1: 45,386,295 (GRCm39) D145G probably damaging Het
Cpsf6 A T 10: 117,202,034 (GRCm39) probably benign Het
Dock5 A G 14: 68,024,338 (GRCm39) probably benign Het
Folh1 T G 7: 86,383,351 (GRCm39) R465S probably damaging Het
Garem1 T A 18: 21,281,714 (GRCm39) Q214L probably damaging Het
Ldb2 T A 5: 44,699,026 (GRCm39) probably null Het
Lmln A G 16: 32,903,435 (GRCm39) N283S probably benign Het
Mical2 A G 7: 111,981,352 (GRCm39) N508S possibly damaging Het
Obsl1 C A 1: 75,467,518 (GRCm39) G1419C probably benign Het
Pafah1b3 T A 7: 24,995,614 (GRCm39) T115S probably benign Het
Pcdhb5 C A 18: 37,455,162 (GRCm39) A514E probably damaging Het
Prl8a8 G T 13: 27,693,593 (GRCm39) T144K probably damaging Het
Rasgrp1 T A 2: 117,136,272 (GRCm39) K105* probably null Het
Rin1 T C 19: 5,102,438 (GRCm39) S316P probably benign Het
Serpinb3b A T 1: 107,085,411 (GRCm39) F110Y probably benign Het
Sh3bgrl2 C T 9: 83,459,607 (GRCm39) P55L probably benign Het
Slc6a15 T C 10: 103,225,002 (GRCm39) V30A probably benign Het
Sncaip T G 18: 53,018,035 (GRCm39) probably null Het
Tcerg1l T C 7: 137,811,533 (GRCm39) R554G probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tor1a A G 2: 30,857,202 (GRCm39) I116T probably damaging Het
Tprg1l A G 4: 154,242,890 (GRCm39) S188P probably damaging Het
Tut4 G A 4: 108,407,925 (GRCm39) R1398H probably damaging Het
Vcan A T 13: 89,839,394 (GRCm39) V2050E possibly damaging Het
Zfp280d T C 9: 72,229,853 (GRCm39) C362R probably damaging Het
Other mutations in Slc10a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Slc10a2 APN 8 5,141,667 (GRCm39) missense probably benign 0.00
IGL00596:Slc10a2 APN 8 5,141,680 (GRCm39) missense probably benign 0.00
IGL01472:Slc10a2 APN 8 5,141,652 (GRCm39) missense probably damaging 1.00
IGL02679:Slc10a2 APN 8 5,148,499 (GRCm39) missense probably damaging 1.00
gall UTSW 8 5,141,621 (GRCm39) critical splice donor site probably null
R0560:Slc10a2 UTSW 8 5,139,092 (GRCm39) missense probably benign 0.02
R0629:Slc10a2 UTSW 8 5,148,562 (GRCm39) missense probably benign 0.30
R0743:Slc10a2 UTSW 8 5,139,132 (GRCm39) missense probably damaging 0.99
R0970:Slc10a2 UTSW 8 5,155,115 (GRCm39) missense probably benign 0.00
R1033:Slc10a2 UTSW 8 5,154,889 (GRCm39) missense probably damaging 0.99
R1557:Slc10a2 UTSW 8 5,141,755 (GRCm39) missense probably damaging 1.00
R1808:Slc10a2 UTSW 8 5,154,856 (GRCm39) missense probably damaging 0.96
R3620:Slc10a2 UTSW 8 5,154,909 (GRCm39) missense probably damaging 0.99
R4084:Slc10a2 UTSW 8 5,139,126 (GRCm39) missense possibly damaging 0.71
R4112:Slc10a2 UTSW 8 5,155,135 (GRCm39) missense probably benign
R5693:Slc10a2 UTSW 8 5,155,128 (GRCm39) missense probably damaging 1.00
R6294:Slc10a2 UTSW 8 5,141,621 (GRCm39) critical splice donor site probably null
R6459:Slc10a2 UTSW 8 5,148,581 (GRCm39) splice site probably null
R7442:Slc10a2 UTSW 8 5,139,086 (GRCm39) missense possibly damaging 0.80
R8479:Slc10a2 UTSW 8 5,148,443 (GRCm39) splice site probably null
R8822:Slc10a2 UTSW 8 5,139,149 (GRCm39) missense probably damaging 1.00
R9075:Slc10a2 UTSW 8 5,155,267 (GRCm39) start gained probably benign
R9255:Slc10a2 UTSW 8 5,148,565 (GRCm39) missense probably benign 0.00
R9493:Slc10a2 UTSW 8 5,139,047 (GRCm39) missense
Z1177:Slc10a2 UTSW 8 5,148,448 (GRCm39) missense probably damaging 1.00
Z1188:Slc10a2 UTSW 8 5,155,063 (GRCm39) missense probably damaging 0.98
Posted On 2012-04-20