Incidental Mutation 'F6893:Slc45a3'
ID208
Institutional Source Beutler Lab
Gene Symbol Slc45a3
Ensembl Gene ENSMUSG00000026435
Gene Namesolute carrier family 45, member 3
Synonyms2210413P12Rik, Pcanap6, IPCA-6
Accession Numbers

Genbank: NM_145977; MGI: 1922082  

Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome1
Chromosomal Location131962967-131982969 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131981337 bp
ZygosityHomozygous
Amino Acid Change Glutamic Acid to Glycine at position 424 (E424G)
Ref Sequence ENSEMBL: ENSMUSP00000136190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027695] [ENSMUST00000177943] [ENSMUST00000190322]
Predicted Effect probably benign
Transcript: ENSMUST00000027695
AA Change: E424G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: E424G

DomainStartEndE-ValueType
Pfam:MFS_1 18 306 1.2e-12 PFAM
Pfam:MFS_2 21 408 5.4e-11 PFAM
transmembrane domain 520 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177943
AA Change: E424G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: E424G

DomainStartEndE-ValueType
Pfam:MFS_1 18 306 1.5e-12 PFAM
Pfam:MFS_2 19 239 2.4e-13 PFAM
transmembrane domain 320 342 N/A INTRINSIC
transmembrane domain 355 377 N/A INTRINSIC
transmembrane domain 382 404 N/A INTRINSIC
transmembrane domain 520 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185387
Predicted Effect probably benign
Transcript: ENSMUST00000190322
SMART Domains Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435

DomainStartEndE-ValueType
Pfam:MFS_2 20 218 3.3e-9 PFAM
Pfam:MFS_1 51 219 1.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191034
Meta Mutation Damage Score 0.028 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y227H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Txnrd1 C T 10: 82,866,989 Q95* probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Slc45a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Slc45a3 APN 1 131977527 missense probably damaging 0.98
IGL01626:Slc45a3 APN 1 131978987 missense possibly damaging 0.73
IGL01677:Slc45a3 APN 1 131978970 missense probably damaging 0.99
R0122:Slc45a3 UTSW 1 131977740 missense probably damaging 1.00
R0402:Slc45a3 UTSW 1 131977527 missense possibly damaging 0.85
R1596:Slc45a3 UTSW 1 131981529 missense probably damaging 1.00
R1647:Slc45a3 UTSW 1 131977524 missense probably damaging 1.00
R1752:Slc45a3 UTSW 1 131977521 missense probably damaging 1.00
R1771:Slc45a3 UTSW 1 131976956 missense possibly damaging 0.51
R1776:Slc45a3 UTSW 1 131976956 missense possibly damaging 0.51
R2071:Slc45a3 UTSW 1 131977632 missense probably damaging 1.00
R2939:Slc45a3 UTSW 1 131977899 missense probably damaging 1.00
R4230:Slc45a3 UTSW 1 131981661 missense probably damaging 0.96
R4876:Slc45a3 UTSW 1 131981547 missense possibly damaging 0.48
R4906:Slc45a3 UTSW 1 131981577 missense probably damaging 1.00
R5265:Slc45a3 UTSW 1 131978194 missense possibly damaging 0.46
R5964:Slc45a3 UTSW 1 131978073 missense probably damaging 0.98
R6849:Slc45a3 UTSW 1 131977964 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 1713 of the Slc45a3 transcript in exon 6 of 6 total exons.  Two transcripts of the Slc45a3 gene are displayed on Ensembl. The mutated nucleotide causes a glutamic acid to glycine substitution at amino acid 424 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
 

 

Protein Function and Prediction
The Slc45a3 gene encodes a 553 amino acid eleven-pass transmembrane protein that is a member of the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. This transporter is expressed in the epididymis (Uniprot Q8K0H7). 
 
The E424G change is located between transmembrane domains 10 and 11, and is predicted to be benign by the PolyPhen program.
Posted On2010-05-04