Incidental Mutation 'IGL02489:Slc5a3'
ID295542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a3
Ensembl Gene ENSMUSG00000089774
Gene Namesolute carrier family 5 (inositol transporters), member 3
SynonymsSmit1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02489
Quality Score
Status
Chromosome16
Chromosomal Location92058322-92087473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92077705 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 217 (Y217N)
Ref Sequence ENSEMBL: ENSMUSP00000109608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [ENSMUST00000131098] [ENSMUST00000232677]
Predicted Effect probably benign
Transcript: ENSMUST00000047429
SMART Domains Protein: ENSMUSP00000037631
Gene: ENSMUSG00000039680

DomainStartEndE-ValueType
Pfam:Ribosomal_S6 3 95 7.2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113975
AA Change: Y217N

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: Y217N

DomainStartEndE-ValueType
Pfam:SSF 39 477 1.3e-163 PFAM
transmembrane domain 511 533 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
transmembrane domain 696 715 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131098
SMART Domains Protein: ENSMUSP00000139098
Gene: ENSMUSG00000089774

DomainStartEndE-ValueType
Pfam:SSF 1 142 3.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232222
Predicted Effect probably benign
Transcript: ENSMUST00000232677
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Slc5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Slc5a3 APN 16 92077631 missense probably damaging 1.00
IGL01100:Slc5a3 APN 16 92079222 intron probably benign
IGL01374:Slc5a3 APN 16 92077118 missense probably benign 0.03
IGL01566:Slc5a3 APN 16 92077577 missense probably damaging 0.99
IGL01615:Slc5a3 APN 16 92079112 nonsense probably null
IGL03329:Slc5a3 APN 16 92077460 missense probably damaging 1.00
PIT4449001:Slc5a3 UTSW 16 92077814 missense probably benign
R0054:Slc5a3 UTSW 16 92077634 missense probably damaging 1.00
R0054:Slc5a3 UTSW 16 92077634 missense probably damaging 1.00
R0166:Slc5a3 UTSW 16 92077693 missense possibly damaging 0.73
R1022:Slc5a3 UTSW 16 92077495 missense probably damaging 1.00
R1024:Slc5a3 UTSW 16 92077495 missense probably damaging 1.00
R1102:Slc5a3 UTSW 16 92077877 missense probably damaging 1.00
R1635:Slc5a3 UTSW 16 92077396 missense possibly damaging 0.89
R1777:Slc5a3 UTSW 16 92077756 missense probably benign 0.00
R1955:Slc5a3 UTSW 16 92077874 missense possibly damaging 0.46
R2068:Slc5a3 UTSW 16 92077240 missense probably damaging 1.00
R3787:Slc5a3 UTSW 16 92077928 missense possibly damaging 0.82
R4152:Slc5a3 UTSW 16 92077808 nonsense probably null
R4651:Slc5a3 UTSW 16 92077202 missense probably benign 0.26
R4944:Slc5a3 UTSW 16 92078683 missense possibly damaging 0.67
R5008:Slc5a3 UTSW 16 92077281 missense probably damaging 0.96
R6058:Slc5a3 UTSW 16 92079075 missense probably benign 0.00
R7459:Slc5a3 UTSW 16 92079017 missense probably benign
R7544:Slc5a3 UTSW 16 92077794 missense probably benign 0.00
R7843:Slc5a3 UTSW 16 92079019 missense probably benign
Posted On2015-04-16