Incidental Mutation 'IGL00962:Slc45a3'
ID 26726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc45a3
Ensembl Gene ENSMUSG00000026435
Gene Name solute carrier family 45, member 3
Synonyms Pcanap6, 2210413P12Rik, IPCA-6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00962
Quality Score
Status
Chromosome 1
Chromosomal Location 131890705-131910707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131905265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 96 (V96D)
Ref Sequence ENSEMBL: ENSMUSP00000136190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027695] [ENSMUST00000177943] [ENSMUST00000190322]
AlphaFold Q8K0H7
Predicted Effect probably damaging
Transcript: ENSMUST00000027695
AA Change: V96D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: V96D

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 damaging
Transcript: ENSMUST00000177943
AA Change: V96D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: V96D

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 possibly damaging
Transcript: ENSMUST00000190322
AA Change: V82D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435
AA Change: V82D

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,564,723 (GRCm39) probably null Het
Atp8b1 C T 18: 64,664,515 (GRCm39) A1218T probably damaging Het
AY761185 T C 8: 21,434,611 (GRCm39) D39G possibly damaging Het
Fam167a G A 14: 63,699,904 (GRCm39) E155K probably damaging Het
Fat3 C T 9: 15,826,815 (GRCm39) G4379D probably benign Het
Fkbp10 A G 11: 100,312,643 (GRCm39) T300A probably benign Het
Gm6665 T C 18: 31,953,204 (GRCm39) K57R probably benign Het
Gnb4 T C 3: 32,647,318 (GRCm39) T86A probably benign Het
H2-Q2 A G 17: 35,561,825 (GRCm39) Y105C probably damaging Het
Ighv1-75 A G 12: 115,797,883 (GRCm39) probably benign Het
Ilvbl A G 10: 78,419,172 (GRCm39) T474A possibly damaging Het
Shld2 A T 14: 33,971,208 (GRCm39) V559E probably damaging Het
Tmtc3 C T 10: 100,307,815 (GRCm39) G201R probably damaging Het
Tnfsf14 G A 17: 57,499,906 (GRCm39) Q83* probably null Het
Trpm2 A G 10: 77,779,750 (GRCm39) probably benign Het
Ubr5 A T 15: 37,986,178 (GRCm39) F2219I probably damaging Het
Utrn C T 10: 12,357,078 (GRCm39) V2747I possibly damaging Het
Vcan T C 13: 89,810,171 (GRCm39) N3207D probably damaging Het
Vmn1r35 A G 6: 66,656,361 (GRCm39) V103A possibly damaging Het
Vmn2r97 A G 17: 19,149,490 (GRCm39) T293A probably damaging Het
Wdr35 A G 12: 9,071,726 (GRCm39) probably benign Het
Other mutations in Slc45a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Slc45a3 APN 1 131,906,725 (GRCm39) missense possibly damaging 0.73
IGL01677:Slc45a3 APN 1 131,906,708 (GRCm39) missense probably damaging 0.99
F6893:Slc45a3 UTSW 1 131,909,075 (GRCm39) missense probably benign
R0122:Slc45a3 UTSW 1 131,905,478 (GRCm39) missense probably damaging 1.00
R0402:Slc45a3 UTSW 1 131,905,265 (GRCm39) missense possibly damaging 0.85
R1596:Slc45a3 UTSW 1 131,909,267 (GRCm39) missense probably damaging 1.00
R1647:Slc45a3 UTSW 1 131,905,262 (GRCm39) missense probably damaging 1.00
R1752:Slc45a3 UTSW 1 131,905,259 (GRCm39) missense probably damaging 1.00
R1771:Slc45a3 UTSW 1 131,904,694 (GRCm39) missense possibly damaging 0.51
R1776:Slc45a3 UTSW 1 131,904,694 (GRCm39) missense possibly damaging 0.51
R2071:Slc45a3 UTSW 1 131,905,370 (GRCm39) missense probably damaging 1.00
R2939:Slc45a3 UTSW 1 131,905,637 (GRCm39) missense probably damaging 1.00
R4230:Slc45a3 UTSW 1 131,909,399 (GRCm39) missense probably damaging 0.96
R4876:Slc45a3 UTSW 1 131,909,285 (GRCm39) missense possibly damaging 0.48
R4906:Slc45a3 UTSW 1 131,909,315 (GRCm39) missense probably damaging 1.00
R5265:Slc45a3 UTSW 1 131,905,932 (GRCm39) missense possibly damaging 0.46
R5964:Slc45a3 UTSW 1 131,905,811 (GRCm39) missense probably damaging 0.98
R6849:Slc45a3 UTSW 1 131,905,702 (GRCm39) missense probably damaging 1.00
R7483:Slc45a3 UTSW 1 131,904,549 (GRCm39) start gained probably benign
R8104:Slc45a3 UTSW 1 131,904,754 (GRCm39) missense probably benign 0.29
R8322:Slc45a3 UTSW 1 131,905,523 (GRCm39) missense probably damaging 0.99
R8333:Slc45a3 UTSW 1 131,905,928 (GRCm39) missense probably damaging 1.00
R9011:Slc45a3 UTSW 1 131,905,714 (GRCm39) missense probably benign 0.02
R9035:Slc45a3 UTSW 1 131,909,187 (GRCm39) frame shift probably null
R9101:Slc45a3 UTSW 1 131,905,175 (GRCm39) missense possibly damaging 0.51
Posted On 2013-04-17