Incidental Mutation 'R7544:Slc5a3'
ID 584118
Institutional Source Beutler Lab
Gene Symbol Slc5a3
Ensembl Gene ENSMUSG00000089774
Gene Name solute carrier family 5 (inositol transporters), member 3
Synonyms Smit1
MMRRC Submission 045616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7544 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 91855210-91884361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91874682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 246 (N246K)
Ref Sequence ENSEMBL: ENSMUSP00000109608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [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: N246K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: N246K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,089,765 (GRCm39) V40I probably damaging Het
Abcb11 T C 2: 69,095,830 (GRCm39) K837E probably benign Het
Arhgef10 T C 8: 15,029,854 (GRCm39) S919P probably benign Het
Atxn2 T C 5: 121,919,431 (GRCm39) S530P probably damaging Het
Bicc1 T C 10: 70,792,204 (GRCm39) E268G possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Capn7 T G 14: 31,062,007 (GRCm39) L40V probably damaging Het
Cd28 A T 1: 60,808,859 (GRCm39) N191I probably damaging Het
Cfap69 G A 5: 5,645,936 (GRCm39) T588M not run Het
Csmd1 T C 8: 16,142,310 (GRCm39) E1531G probably damaging Het
Cyp4a14 T A 4: 115,348,283 (GRCm39) D398V probably damaging Het
Dchs2 T C 3: 83,262,434 (GRCm39) S2901P probably damaging Het
Ddx11 G A 17: 66,433,280 (GRCm39) G37S probably damaging Het
Diaph1 A T 18: 38,026,322 (GRCm39) probably null Het
Ech1 T C 7: 28,525,392 (GRCm39) V49A probably benign Het
Elovl4 T C 9: 83,665,271 (GRCm39) Y196C probably damaging Het
Ern2 G A 7: 121,772,422 (GRCm39) L679F probably benign Het
Fbf1 A T 11: 116,056,659 (GRCm39) M17K probably benign Het
Flvcr1 C A 1: 190,758,143 (GRCm39) G50W probably damaging Het
Fryl A G 5: 73,238,382 (GRCm39) S1455P probably benign Het
Fzd9 A G 5: 135,278,716 (GRCm39) Y390H probably damaging Het
Gnai3 C T 3: 108,025,702 (GRCm39) V126M Het
Gpc5 T C 14: 115,665,585 (GRCm39) F470L probably damaging Het
Grin1 T C 2: 25,195,086 (GRCm39) N332S probably benign Het
Gtf3c5 T A 2: 28,469,554 (GRCm39) I117F possibly damaging Het
Hydin A T 8: 111,316,157 (GRCm39) S4350C probably benign Het
Kcnh4 G T 11: 100,647,906 (GRCm39) H152Q probably benign Het
Kcnk12 A T 17: 88,053,493 (GRCm39) S390T possibly damaging Het
Klra9 T G 6: 130,168,183 (GRCm39) T28P probably benign Het
Lef1 T A 3: 130,988,414 (GRCm39) I327N probably damaging Het
Lin54 A G 5: 100,633,129 (GRCm39) V185A possibly damaging Het
Lrrc37 T C 11: 103,506,274 (GRCm39) E1898G probably benign Het
Lrrc4b A T 7: 44,111,975 (GRCm39) I616F probably damaging Het
Mad2l1bp A G 17: 46,463,770 (GRCm39) Y85H possibly damaging Het
Mars1 T C 10: 127,147,479 (GRCm39) E7G probably benign Het
Mpnd G A 17: 56,318,666 (GRCm39) R225H probably benign Het
Muc4 T A 16: 32,555,016 (GRCm39) M1K probably null Het
Nckap5 A G 1: 125,953,948 (GRCm39) L868S possibly damaging Het
Ndst1 G A 18: 60,830,256 (GRCm39) T618M probably damaging Het
Npas1 A T 7: 16,194,899 (GRCm39) probably null Het
Nr2f2 A T 7: 70,004,499 (GRCm39) V384D probably damaging Het
Or10a3b A G 7: 108,444,528 (GRCm39) S230P probably benign Het
Or1e19 A G 11: 73,316,596 (GRCm39) L71P probably damaging Het
Or4p8 T A 2: 88,727,705 (GRCm39) I79F probably damaging Het
Paip1 T A 13: 119,582,337 (GRCm39) F188I probably damaging Het
Pcdha4 A T 18: 37,086,776 (GRCm39) I320L probably benign Het
Peg10 TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC T 6: 4,756,427 (GRCm39) probably null Het
Pgpep1 C T 8: 71,103,168 (GRCm39) G110R unknown Het
Pidd1 T A 7: 141,020,252 (GRCm39) H558L possibly damaging Het
Ppp1r1a C T 15: 103,439,776 (GRCm39) probably null Het
Pramel18 T C 4: 101,768,599 (GRCm39) S317P possibly damaging Het
Pramel51 T A 12: 88,142,850 (GRCm39) Y451F probably benign Het
Prkcg A G 7: 3,359,081 (GRCm39) D96G probably benign Het
Prpf40b A G 15: 99,203,899 (GRCm39) N154S probably benign Het
Psg17 A G 7: 18,553,897 (GRCm39) Y118H probably benign Het
Ptpn12 A G 5: 21,214,509 (GRCm39) I209T probably damaging Het
Reln T A 5: 22,181,276 (GRCm39) K1835* probably null Het
Sf3b3 T C 8: 111,564,915 (GRCm39) M298V probably benign Het
Slmap T A 14: 26,151,001 (GRCm39) E522D probably damaging Het
Slmap C T 14: 26,151,003 (GRCm39) E522K probably damaging Het
Tcp10c T A 17: 13,581,260 (GRCm39) L230Q probably damaging Het
Tdo2 A G 3: 81,878,942 (GRCm39) probably null Het
Tet3 A T 6: 83,381,623 (GRCm39) W182R probably damaging Het
Tmem151a T A 19: 5,121,895 (GRCm39) M35L unknown Het
Tom1l2 TTGATGATG TTGATG 11: 60,171,040 (GRCm39) probably benign Het
Trak2 A T 1: 58,960,227 (GRCm39) probably null Het
Trappc11 T A 8: 47,975,449 (GRCm39) E256D possibly damaging Het
Trim62 C T 4: 128,796,346 (GRCm39) T281I probably benign Het
Trip13 T C 13: 74,081,021 (GRCm39) E115G probably benign Het
Trp63 A G 16: 25,620,837 (GRCm39) T10A probably benign Het
Urah A T 7: 140,415,565 (GRCm39) H11L probably damaging Het
Usp39 G A 6: 72,319,891 (GRCm39) T109I probably damaging Het
Wfikkn2 T C 11: 94,128,738 (GRCm39) T468A probably benign Het
Zfhx4 T G 3: 5,477,875 (GRCm39) S3497A probably damaging Het
Zfp85 C T 13: 67,897,184 (GRCm39) R296H probably benign 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
R6058:Slc5a3 UTSW 16 91,875,963 (GRCm39) missense probably benign 0.00
R7459:Slc5a3 UTSW 16 91,875,905 (GRCm39) missense probably benign
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'- TGACTGCTCTGCTGACTGTC -3'
(R):5'- CAGCCATTAGAGTGGAGCCTTTG -3'

Sequencing Primer
(F):5'- AGGCCTTGTTGCAGTGATCTAC -3'
(R):5'- GGCATGAGCAATGTTTTTGGC -3'
Posted On 2019-10-17