Incidental Mutation 'R6058:Slc5a3'
ID 483087
Institutional Source Beutler Lab
Gene Symbol Slc5a3
Ensembl Gene ENSMUSG00000089774
Gene Name solute carrier family 5 (inositol transporters), member 3
Synonyms Smit1
MMRRC Submission 044224-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 91855210-91884361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91875963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 673 (S673R)
Ref Sequence ENSEMBL: ENSMUSP00000109608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [ENSMUST00000131098] [ENSMUST00000232677]
AlphaFold Q9JKZ2
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: S673R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: S673R

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adamts20 G A 15: 94,227,928 (GRCm39) R1040* probably null Het
Akt1 A G 12: 112,628,634 (GRCm39) L52P probably damaging Het
Alk T A 17: 72,176,742 (GRCm39) T1521S probably benign Het
Armt1 A G 10: 4,403,488 (GRCm39) N191S probably damaging Het
Ascl1 T G 10: 87,328,562 (GRCm39) N130T probably damaging Het
Bahcc1 T G 11: 120,178,211 (GRCm39) S2257A probably damaging Het
Cd86 T C 16: 36,449,377 (GRCm39) M7V possibly damaging Het
Cep57 A T 9: 13,722,057 (GRCm39) S304R possibly damaging Het
Cep57l1 A T 10: 41,616,918 (GRCm39) I123N possibly damaging Het
Cers6 A G 2: 68,692,008 (GRCm39) N10S probably benign Het
Chrng A G 1: 87,139,074 (GRCm39) D475G probably damaging Het
Crabp1 T A 9: 54,680,129 (GRCm39) V128E probably damaging Het
Csnk2a1-ps3 T C 1: 156,352,425 (GRCm39) Y209H probably damaging Het
Dcdc2a T C 13: 25,240,354 (GRCm39) V34A possibly damaging Het
Eeig1 G A 2: 32,450,102 (GRCm39) V117I probably benign Het
Fbn1 A G 2: 125,308,532 (GRCm39) C177R possibly damaging Het
Fras1 A G 5: 96,857,844 (GRCm39) D2046G probably benign Het
Glul T C 1: 153,783,087 (GRCm39) I220T probably benign Het
Gpc6 C T 14: 118,202,182 (GRCm39) T464M probably damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
H2-K2 G T 17: 34,218,304 (GRCm39) T204K probably benign Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hecw2 T C 1: 53,963,135 (GRCm39) H792R possibly damaging Het
Herc4 T A 10: 63,110,821 (GRCm39) I244K possibly damaging Het
Hsd11b2 G T 8: 106,249,966 (GRCm39) R359L possibly damaging Het
Igsf9 G A 1: 172,312,456 (GRCm39) E56K probably damaging Het
Il9 T C 13: 56,628,495 (GRCm39) T65A possibly damaging Het
Kcnip1 T C 11: 33,592,478 (GRCm39) T102A probably damaging Het
L3mbtl2 T C 15: 81,551,555 (GRCm39) S74P probably benign Het
Lamc2 C T 1: 153,012,575 (GRCm39) D700N probably benign Het
Ldb2 T C 5: 44,633,905 (GRCm39) T322A possibly damaging Het
Lix1 A T 17: 17,664,012 (GRCm39) I117F probably damaging Het
Map2 T A 1: 66,454,573 (GRCm39) D1154E probably benign Het
Marco A T 1: 120,404,435 (GRCm39) I425N probably damaging Het
Mark4 T C 7: 19,160,310 (GRCm39) E650G probably benign Het
Mink1 A G 11: 70,502,546 (GRCm39) T1086A possibly damaging Het
Nxf1 G A 19: 8,745,186 (GRCm39) V479M probably damaging Het
Or10v1 T A 19: 11,873,388 (GRCm39) M1K probably null Het
Or11g2 T C 14: 50,856,158 (GRCm39) F160L probably benign Het
Or2n1e A G 17: 38,586,150 (GRCm39) T163A probably damaging Het
Or5h23 T C 16: 58,906,273 (GRCm39) D191G probably damaging Het
Or5h23 A G 16: 58,906,792 (GRCm39) V18A probably benign Het
Or6c5 T C 10: 129,074,329 (GRCm39) S104P probably damaging Het
Otx2 T C 14: 48,896,215 (GRCm39) D281G probably damaging Het
Pcdhga3 A T 18: 37,808,141 (GRCm39) D198V probably damaging Het
Ppp1r13l T C 7: 19,104,500 (GRCm39) V273A probably benign Het
Ppp6r2 T C 15: 89,137,455 (GRCm39) probably null Het
Pramel51 T A 12: 88,143,995 (GRCm39) I273F possibly damaging Het
Prg4 C T 1: 150,327,197 (GRCm39) G873D probably damaging Het
Ptprq T C 10: 107,471,135 (GRCm39) N1422S probably benign Het
Rbm27 A T 18: 42,460,570 (GRCm39) K839M probably damaging Het
Rere A T 4: 150,553,255 (GRCm39) N149I probably damaging Het
Ret A G 6: 118,156,280 (GRCm39) L340S probably benign Het
Sel1l2 T A 2: 140,082,889 (GRCm39) D583V possibly damaging Het
Shroom1 A T 11: 53,354,308 (GRCm39) D76V possibly damaging Het
Spink1 A T 18: 43,861,247 (GRCm39) I74N probably damaging Het
Tbc1d1 T A 5: 64,435,352 (GRCm39) S497T probably damaging Het
Trim3 C T 7: 105,260,278 (GRCm39) R741Q probably damaging Het
Ttn A G 2: 76,747,022 (GRCm39) C4676R probably benign Het
Ubqlnl G A 7: 103,797,959 (GRCm39) P513S probably benign Het
Unc13d C T 11: 115,964,394 (GRCm39) probably null Het
Vmn1r125 TGG TG 7: 21,006,144 (GRCm39) probably null Het
Vmn2r7 A T 3: 64,632,436 (GRCm39) C9S probably benign Het
Xdh T A 17: 74,213,264 (GRCm39) M829L probably damaging Het
Zcrb1 A G 15: 93,285,463 (GRCm39) F173L probably benign Het
Zfp41 T C 15: 75,490,372 (GRCm39) V108A probably damaging Het
Zfp438 T C 18: 5,213,209 (GRCm39) E583G probably damaging Het
Zfp628 T C 7: 4,923,917 (GRCm39) L713P probably damaging Het
Zfp664 T A 5: 124,963,042 (GRCm39) C145* probably null Het
Zfp683 T C 4: 133,786,042 (GRCm39) C390R probably damaging Het
Zfp941 G A 7: 140,392,010 (GRCm39) P450S probably damaging Het
Other mutations in Slc5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Slc5a3 APN 16 91,874,519 (GRCm39) missense probably damaging 1.00
IGL01100:Slc5a3 APN 16 91,876,110 (GRCm39) intron probably benign
IGL01374:Slc5a3 APN 16 91,874,006 (GRCm39) missense probably benign 0.03
IGL01566:Slc5a3 APN 16 91,874,465 (GRCm39) missense probably damaging 0.99
IGL01615:Slc5a3 APN 16 91,876,000 (GRCm39) nonsense probably null
IGL02489:Slc5a3 APN 16 91,874,593 (GRCm39) missense possibly damaging 0.78
IGL03329:Slc5a3 APN 16 91,874,348 (GRCm39) missense probably damaging 1.00
PIT4449001:Slc5a3 UTSW 16 91,874,702 (GRCm39) missense probably benign
R0054:Slc5a3 UTSW 16 91,874,522 (GRCm39) missense probably damaging 1.00
R0054:Slc5a3 UTSW 16 91,874,522 (GRCm39) missense probably damaging 1.00
R0166:Slc5a3 UTSW 16 91,874,581 (GRCm39) missense possibly damaging 0.73
R1022:Slc5a3 UTSW 16 91,874,383 (GRCm39) missense probably damaging 1.00
R1024:Slc5a3 UTSW 16 91,874,383 (GRCm39) missense probably damaging 1.00
R1102:Slc5a3 UTSW 16 91,874,765 (GRCm39) missense probably damaging 1.00
R1635:Slc5a3 UTSW 16 91,874,284 (GRCm39) missense possibly damaging 0.89
R1777:Slc5a3 UTSW 16 91,874,644 (GRCm39) missense probably benign 0.00
R1955:Slc5a3 UTSW 16 91,874,762 (GRCm39) missense possibly damaging 0.46
R2068:Slc5a3 UTSW 16 91,874,128 (GRCm39) missense probably damaging 1.00
R3787:Slc5a3 UTSW 16 91,874,816 (GRCm39) missense possibly damaging 0.82
R4152:Slc5a3 UTSW 16 91,874,696 (GRCm39) nonsense probably null
R4651:Slc5a3 UTSW 16 91,874,090 (GRCm39) missense probably benign 0.26
R4944:Slc5a3 UTSW 16 91,875,571 (GRCm39) missense possibly damaging 0.67
R5008:Slc5a3 UTSW 16 91,874,169 (GRCm39) missense probably damaging 0.96
R7459:Slc5a3 UTSW 16 91,875,905 (GRCm39) missense probably benign
R7544:Slc5a3 UTSW 16 91,874,682 (GRCm39) missense probably benign 0.00
R7843:Slc5a3 UTSW 16 91,875,907 (GRCm39) missense probably benign
R9432:Slc5a3 UTSW 16 91,874,615 (GRCm39) missense probably benign 0.00
R9501:Slc5a3 UTSW 16 91,875,257 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCCATGGGTCATTCAGAGGC -3'
(R):5'- TCAGCGTAAACAATGCCTGG -3'

Sequencing Primer
(F):5'- GCAGAAACACCAGTAGATGCTTATTC -3'
(R):5'- CTGGGAGGTGCGACAGTTAC -3'
Posted On 2017-07-14