Incidental Mutation 'PIT4449001:Slc5a3'
ID555751
Institutional Source Beutler Lab
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 #PIT4449001 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location92058322-92087473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92077814 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 253 (D253G)
Ref Sequence ENSEMBL: ENSMUSP00000109608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [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 benign
Transcript: ENSMUST00000113975
AA Change: D253G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: D253G

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 probably benign
Transcript: ENSMUST00000232677
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 83,967,982 N125S probably benign Het
BC048671 T A 6: 90,305,163 L101I probably damaging Het
Camta1 A G 4: 151,131,586 L959P probably benign Het
Cfh C A 1: 140,112,565 V598F probably damaging Het
Cyp2j7 G T 4: 96,215,338 T320K probably damaging Het
Ddr1 A G 17: 35,687,249 I468T possibly damaging Het
Dhx15 A G 5: 52,160,958 V510A probably damaging Het
Dpp4 T A 2: 62,356,644 K507N probably benign Het
Evpl G A 11: 116,233,399 T198M possibly damaging Het
Gabbr1 G A 17: 37,056,350 V373I probably damaging Het
Gak A T 5: 108,580,925 S1049T probably benign Het
Gipr C T 7: 19,160,618 R253H probably benign Het
Gm3685 T A 14: 7,043,960 M73L probably benign Het
Gm5168 C T X: 26,039,540 R129Q probably null Het
Kcnh1 T A 1: 192,418,684 V555D probably damaging Het
Kif26b T C 1: 178,918,086 S1916P probably damaging Het
Lingo4 T C 3: 94,401,932 V59A probably benign Het
Maats1 T C 16: 38,328,358 E236G probably damaging Het
Mroh8 T A 2: 157,225,534 Q635L probably damaging Het
Msh6 T A 17: 87,986,188 D790E probably damaging Het
Nrxn1 A T 17: 90,597,579 W809R probably damaging Het
Olfr201 C A 16: 59,269,130 C179F probably damaging Het
Polr3d T C 14: 70,439,463 H397R probably benign Het
Pwp2 G A 10: 78,178,470 T432I probably benign Het
Rad21 G C 15: 51,973,243 F177L probably benign Het
Rnf182 G A 13: 43,668,677 V235I probably benign Het
Scn11a C T 9: 119,769,948 C1172Y probably damaging Het
Sh2b3 A G 5: 121,828,679 L124P possibly damaging Het
Six2 T C 17: 85,685,478 N199S probably benign Het
Synm A G 7: 67,735,277 M879T probably benign Het
Tasp1 A G 2: 139,910,535 I328T possibly damaging Het
Tbrg4 T C 11: 6,619,689 Q309R probably damaging Het
Tcrg-C3 A T 13: 19,263,362 R162* probably null Het
Tmtc2 A G 10: 105,303,604 L687P probably damaging Het
Tufm T C 7: 126,487,449 M1T probably null Het
Vmn2r116 A C 17: 23,388,947 L496F probably benign Het
Vmn2r75 C T 7: 86,165,583 C234Y probably damaging Het
Wars2 G T 3: 99,205,279 V162L possibly damaging Het
Zc3h11a A T 1: 133,624,611 V586D probably benign Het
Zdhhc5 A T 2: 84,690,227 N535K probably damaging Het
Zfp52 T C 17: 21,557,216 Y38H probably damaging Het
Zfp729b T C 13: 67,591,423 M908V probably benign Het
Zfp772 T C 7: 7,204,351 I114V 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGATCATTGGGGCGCTCAC -3'
(R):5'- TCTCATCAGCAAACACTATCCTGG -3'

Sequencing Primer
(F):5'- CATTGGGGCGCTCACACTTATG -3'
(R):5'- CCTGGTACAACTATGATAAACATTGG -3'
Posted On2019-06-07