Incidental Mutation 'B5639:Slc10a3'
ID 545
Institutional Source Beutler Lab
Gene Symbol Slc10a3
Ensembl Gene ENSMUSG00000032806
Gene Name solute carrier family 10 (sodium/bile acid cotransporter family), member 3
Synonyms DXS253Eh, DXHXS253E, P3, DXSmhG28
Accession Numbers

Genbank: NM_145406

Is this an essential gene? Not available question?
Stock # B5639 of strain 3d
Quality Score
Status Validated
Chromosome X
Chromosomal Location 74369217-74373349 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74369539 bp (GRCm38)
Zygosity Homozygous
Amino Acid Change Proline to Leucine at position 416 (P416L)
Ref Sequence ENSEMBL: ENSMUSP00000109784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015434] [ENSMUST00000037967] [ENSMUST00000073067] [ENSMUST00000114146] [ENSMUST00000114147] [ENSMUST00000155676] [ENSMUST00000178691]
AlphaFold P21129
Predicted Effect probably benign
Transcript: ENSMUST00000015434
SMART Domains Protein: ENSMUSP00000015434
Gene: ENSMUSG00000015290

DomainStartEndE-ValueType
UBQ 1 72 3.86e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000037967
AA Change: P445L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045150
Gene: ENSMUSG00000032806
AA Change: P445L

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:SBF 193 377 5.6e-46 PFAM
transmembrane domain 381 403 N/A INTRINSIC
low complexity region 422 437 N/A INTRINSIC
transmembrane domain 444 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073067
AA Change: P445L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072818
Gene: ENSMUSG00000032806
AA Change: P445L

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:SBF 193 377 6.3e-46 PFAM
transmembrane domain 381 403 N/A INTRINSIC
low complexity region 422 437 N/A INTRINSIC
transmembrane domain 444 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114146
AA Change: P445L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109783
Gene: ENSMUSG00000032806
AA Change: P445L

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:SBF 193 377 5.6e-46 PFAM
transmembrane domain 381 403 N/A INTRINSIC
low complexity region 422 437 N/A INTRINSIC
transmembrane domain 444 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114147
AA Change: P416L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109784
Gene: ENSMUSG00000032806
AA Change: P416L

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:SBF 164 348 5.2e-46 PFAM
transmembrane domain 352 374 N/A INTRINSIC
low complexity region 393 408 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140632
Predicted Effect probably benign
Transcript: ENSMUST00000155676
SMART Domains Protein: ENSMUSP00000120461
Gene: ENSMUSG00000015290

DomainStartEndE-ValueType
UBQ 1 72 1.53e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178691
SMART Domains Protein: ENSMUSP00000136070
Gene: ENSMUSG00000015290

DomainStartEndE-ValueType
UBQ 1 72 1.53e-23 SMART
Meta Mutation Damage Score 0.7096 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 78.3%
Het Detection Efficiency 55.9%
Validation Efficiency 83% (206/248)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]
Allele List at MGI

none

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnmt1 G A 9: 20,907,968 probably benign Het
Eno1 A G 4: 150,245,112 probably benign Het
Ercc8 G A 13: 108,160,723 G56R probably damaging Homo
Gm8773 C T 5: 5,574,060 probably benign Homo
Idh1 A G 1: 65,165,098 probably null Homo
Incenp G A 19: 9,893,818 T149I unknown Het
Olfr1155 G A 2: 87,943,598 S10F probably benign Het
Olfr181 A T 16: 58,926,526 I15K probably benign Homo
Pdk2 T C 11: 95,032,498 D100G possibly damaging Homo
Prss56 T C 1: 87,187,170 L465P probably benign Homo
Syne2 C A 12: 75,929,790 T1243K probably benign Het
Vwf T C 6: 125,642,984 Y1542H probably damaging Homo
Zc3h13 G A 14: 75,316,039 R302Q probably damaging Het
Zfhx4 G T 3: 5,403,175 G2798W probably damaging Homo
Zfp667 A G 7: 6,290,545 T15A probably damaging Het
Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 1608 of the Slc10a3 transcript, in exon 3 of 3 total exons (NM_145406).  Multiple transcripts are annotated in the Vega and Ensembl databases.  The mutation causes a proline to leucine change at amino acid 445 of the encoded protein.  The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

Slc10a3 encodes the 473 amino acid P3 protein that based on sequence similarity belongs to the sodium-dependent bile acid symporter family.  It is predicted to contain nine transmembrane spanning domains and localize to cellular membranes.  The function of the P3 protein is unknown but its ubiquitous expression and sequence conservation in distant animal species suggest essential housekeeping functions (Uniprot P21129).

 

The mutation is predicted to be probably damaging by the PolyPhen-2 program.

Posted On 2010-11-23