Incidental Mutation 'R0054:Slc5a3'
ID16317
Institutional Source Beutler Lab
Gene Symbol Slc5a3
Ensembl Gene ENSMUSG00000089774
Gene Namesolute carrier family 5 (inositol transporters), member 3
SynonymsSmit1
MMRRC Submission 038348-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0054 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location92058322-92087473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92077634 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 193 (I193N)
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 probably damaging
Transcript: ENSMUST00000113975
AA Change: I193N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: I193N

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
Meta Mutation Damage Score 0.31 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.6%
  • 10x: 76.3%
  • 20x: 59.9%
Validation Efficiency 96% (91/95)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,601,774 probably null Het
Apoa4 A G 9: 46,242,524 D141G probably benign Het
Arntl2 T G 6: 146,829,718 V507G probably benign Het
Atg9a T C 1: 75,184,499 Y701C probably damaging Het
Baz2b C T 2: 59,932,166 R922Q probably damaging Het
Brms1 T A 19: 5,046,699 C136* probably null Het
Ccdc180 T A 4: 45,890,900 V24E probably benign Het
Clec4f C T 6: 83,652,929 V216M probably benign Het
Cpd C G 11: 76,790,838 G1160R probably damaging Het
Creb5 A G 6: 53,447,657 M128V probably benign Het
Ddb2 G T 2: 91,234,820 Q87K probably benign Het
Defb41 A G 1: 18,251,247 Y48H probably damaging Het
Dido1 T C 2: 180,661,474 N1546D probably benign Het
Dmac1 A G 4: 75,278,100 V51A possibly damaging Het
Dnajb11 C T 16: 22,862,619 A49V probably damaging Het
Dnajc14 G A 10: 128,807,579 D457N probably damaging Het
Eif3a C A 19: 60,766,826 D973Y unknown Het
Farsb T A 1: 78,462,374 K395* probably null Het
Fem1b A G 9: 62,796,800 S393P probably damaging Het
Fsip2 A C 2: 82,986,955 N4344T possibly damaging Het
Gphn A G 12: 78,637,503 S558G probably damaging Het
Gpr142 C A 11: 114,798,929 H2Q probably benign Het
Grhpr T C 4: 44,988,915 probably benign Het
Grik3 C A 4: 125,623,575 N70K probably damaging Het
Gsap T A 5: 21,250,935 probably benign Het
Iars T A 13: 49,693,135 C237S probably damaging Het
Ighv1-9 A T 12: 114,583,982 F7L probably benign Het
Ints8 A G 4: 11,204,595 probably benign Het
Kcnj16 G T 11: 111,024,723 W70C probably damaging Het
Kpna6 T C 4: 129,657,458 M85V probably benign Het
Kri1 G A 9: 21,275,365 S447L probably damaging Het
Lrp1b A G 2: 40,742,817 V3528A probably benign Het
Lrrc46 A T 11: 97,038,779 L77Q probably damaging Het
Mrpl44 T C 1: 79,779,495 L219S probably damaging Het
Ms4a14 T C 19: 11,303,939 I418M probably benign Het
Myo7a T C 7: 98,065,698 D112G probably damaging Het
Ncoa3 A G 2: 166,055,178 T630A possibly damaging Het
Nsl1 T C 1: 191,082,184 L194P probably damaging Het
Olfr1037 T C 2: 86,085,361 K139E probably benign Het
Olfr205 T C 16: 59,329,065 Y148C possibly damaging Het
Pde4d A G 13: 109,740,421 S159G probably benign Het
Pi4ka T C 16: 17,325,114 R845G probably null Het
Pld1 A G 3: 28,095,884 probably benign Het
Psd T A 19: 46,323,342 I300F probably damaging Het
Ptprz1 T A 6: 22,986,196 W332R probably damaging Het
Rnf212 T A 5: 108,745,664 M70L possibly damaging Het
Sema4f A G 6: 82,919,693 probably benign Het
Sez6 C A 11: 77,953,873 T7K possibly damaging Het
Skint2 T C 4: 112,645,463 I290T probably benign Het
Snip1 T A 4: 125,072,840 Y354* probably null Het
Tmco5 A G 2: 116,887,287 Y200C probably damaging Het
Tmem87b T A 2: 128,831,441 probably benign Het
Trim60 T C 8: 65,001,321 E92G probably benign Het
Ttn A T 2: 76,796,460 D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 I168N probably damaging Het
Zfp385c G A 11: 100,629,956 P293S probably benign Het
Zfp473 T A 7: 44,734,475 S144C probably damaging 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
IGL02489:Slc5a3 APN 16 92077705 missense possibly damaging 0.78
IGL03329:Slc5a3 APN 16 92077460 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
Posted On2013-01-20