Incidental Mutation 'R2185:Slc5a11'
ID 237826
Institutional Source Beutler Lab
Gene Symbol Slc5a11
Ensembl Gene ENSMUSG00000030769
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 11
Synonyms 2010013B02Rik, Kst1
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 122814003-122872476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122872421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 673 (A673S)
Ref Sequence ENSEMBL: ENSMUSP00000127977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033035] [ENSMUST00000167299]
AlphaFold Q8K0E3
Predicted Effect probably damaging
Transcript: ENSMUST00000033035
AA Change: A673S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: A673S

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:SSF 58 487 2.2e-143 PFAM
transmembrane domain 521 543 N/A INTRINSIC
transmembrane domain 653 672 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167299
AA Change: A673S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: A673S

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:SSF 58 487 2.2e-143 PFAM
transmembrane domain 521 543 N/A INTRINSIC
transmembrane domain 653 672 N/A INTRINSIC
Meta Mutation Damage Score 0.1276 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Slc5a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Slc5a11 APN 7 122,849,397 (GRCm39) missense probably null 0.72
IGL01670:Slc5a11 APN 7 122,869,172 (GRCm39) missense probably benign
IGL01960:Slc5a11 APN 7 122,869,163 (GRCm39) missense probably benign 0.00
IGL02512:Slc5a11 APN 7 122,864,478 (GRCm39) missense probably damaging 0.96
IGL02637:Slc5a11 APN 7 122,859,728 (GRCm39) critical splice acceptor site probably null
IGL02680:Slc5a11 APN 7 122,864,854 (GRCm39) missense probably damaging 1.00
IGL03185:Slc5a11 APN 7 122,864,412 (GRCm39) missense possibly damaging 0.61
R0454:Slc5a11 UTSW 7 122,864,458 (GRCm39) missense possibly damaging 0.83
R0894:Slc5a11 UTSW 7 122,857,643 (GRCm39) missense possibly damaging 0.91
R1501:Slc5a11 UTSW 7 122,859,731 (GRCm39) missense probably damaging 1.00
R1879:Slc5a11 UTSW 7 122,838,671 (GRCm39) missense possibly damaging 0.91
R2880:Slc5a11 UTSW 7 122,838,595 (GRCm39) frame shift probably null
R2882:Slc5a11 UTSW 7 122,838,595 (GRCm39) frame shift probably null
R2919:Slc5a11 UTSW 7 122,838,595 (GRCm39) frame shift probably null
R3012:Slc5a11 UTSW 7 122,838,595 (GRCm39) frame shift probably null
R4307:Slc5a11 UTSW 7 122,869,093 (GRCm39) missense probably benign 0.01
R4405:Slc5a11 UTSW 7 122,857,700 (GRCm39) missense probably damaging 1.00
R4510:Slc5a11 UTSW 7 122,834,858 (GRCm39) missense probably benign 0.05
R4511:Slc5a11 UTSW 7 122,834,858 (GRCm39) missense probably benign 0.05
R4599:Slc5a11 UTSW 7 122,857,601 (GRCm39) missense probably benign 0.00
R4660:Slc5a11 UTSW 7 122,864,486 (GRCm39) missense probably damaging 1.00
R5822:Slc5a11 UTSW 7 122,851,654 (GRCm39) missense probably damaging 1.00
R6641:Slc5a11 UTSW 7 122,837,378 (GRCm39) missense probably benign 0.01
R6694:Slc5a11 UTSW 7 122,867,012 (GRCm39) missense possibly damaging 0.65
R7078:Slc5a11 UTSW 7 122,857,669 (GRCm39) missense probably damaging 1.00
R7580:Slc5a11 UTSW 7 122,864,421 (GRCm39) missense probably damaging 1.00
R8088:Slc5a11 UTSW 7 122,864,951 (GRCm39) missense probably benign 0.14
R8139:Slc5a11 UTSW 7 122,869,199 (GRCm39) missense probably benign 0.00
R8302:Slc5a11 UTSW 7 122,847,162 (GRCm39) missense probably damaging 1.00
R8680:Slc5a11 UTSW 7 122,866,975 (GRCm39) missense probably benign 0.19
R9156:Slc5a11 UTSW 7 122,864,492 (GRCm39) nonsense probably null
R9358:Slc5a11 UTSW 7 122,857,775 (GRCm39) missense probably damaging 1.00
R9364:Slc5a11 UTSW 7 122,868,324 (GRCm39) missense probably damaging 0.96
R9370:Slc5a11 UTSW 7 122,834,855 (GRCm39) missense probably benign
Z1177:Slc5a11 UTSW 7 122,838,613 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCAAGGTGGTGAGGGCTATC -3'
(R):5'- GCCCCTGATTTTCACAGTGG -3'

Sequencing Primer
(F):5'- AGGGCTATCCTGTGGCTC -3'
(R):5'- CCTGATTTTCACAGTGGGAGCG -3'
Posted On 2014-10-02