Incidental Mutation 'R4599:Slc5a11'
ID 345441
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 041815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4599 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 123214780-123273253 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123258378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 230 (E230G)
Ref Sequence ENSEMBL: ENSMUSP00000127977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033035] [ENSMUST00000131933] [ENSMUST00000167299]
AlphaFold Q8K0E3
Predicted Effect probably benign
Transcript: ENSMUST00000033035
AA Change: E230G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: E230G

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 benign
Transcript: ENSMUST00000131933
AA Change: E230G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
AA Change: E230G

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:SSF 58 402 1.2e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167299
AA Change: E230G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: E230G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,255,403 V930A probably benign Het
Ankrd13b T C 11: 77,471,668 R677G probably benign Het
Apc T A 18: 34,317,987 Y2611* probably null Het
Apold1 A G 6: 134,984,069 Y162C probably damaging Het
Atp6v0a4 T C 6: 38,078,802 I325V probably benign Het
Cab39 A G 1: 85,848,329 Y249C probably damaging Het
Cd22 T A 7: 30,875,900 H239L probably damaging Het
Chrna7 A G 7: 63,103,790 M327T probably damaging Het
Clock T C 5: 76,235,810 M499V probably benign Het
Clspn A G 4: 126,581,460 E1002G probably benign Het
Clta C T 4: 44,012,819 P10S probably damaging Het
Col5a3 A G 9: 20,774,559 probably null Het
Coq6 T C 12: 84,362,139 V30A probably benign Het
Csmd2 G T 4: 127,988,128 R20L probably benign Het
D430041D05Rik A T 2: 104,208,183 V1547D probably damaging Het
Dapk1 C T 13: 60,718,047 P153S probably benign Het
Dock2 T A 11: 34,239,536 Y1545F probably damaging Het
Dpp6 G T 5: 27,634,548 G354C probably damaging Het
Dyrk1b T C 7: 28,182,431 L105P probably damaging Het
Epor A G 9: 21,961,859 S86P probably benign Het
Fam166b T C 4: 43,427,574 H250R possibly damaging Het
Gale C A 4: 135,967,837 S341* probably null Het
Galnt4 T A 10: 99,109,493 V360E probably damaging Het
Gart A T 16: 91,622,945 C24* probably null Het
Gcnt2 G T 13: 40,887,490 V42L probably benign Het
Herc6 A G 6: 57,659,713 I805V probably benign Het
Ints12 T A 3: 133,098,453 I67N probably benign Het
Irx1 C A 13: 71,960,113 R150L probably damaging Het
Kif26b A G 1: 178,530,459 Y45C unknown Het
Krt35 T C 11: 100,094,008 T275A probably damaging Het
Laptm5 G T 4: 130,916,005 probably benign Het
Lin7a T C 10: 107,412,166 S111P unknown Het
Med27 A G 2: 29,524,458 D159G probably damaging Het
Msh2 A G 17: 87,708,578 K546R probably damaging Het
Myo1a A T 10: 127,720,151 probably null Het
Myo1c T C 11: 75,668,193 F604L probably damaging Het
Myrip A G 9: 120,464,784 K782E probably damaging Het
Ndc80 T C 17: 71,521,068 D88G probably damaging Het
Nrxn2 A G 19: 6,455,252 D375G probably damaging Het
Olfr1380 T C 11: 49,564,718 S266P probably damaging Het
Olfr676 A G 7: 105,036,073 I292V probably benign Het
Padi3 T C 4: 140,798,111 H187R probably damaging Het
Pcdhgb1 A T 18: 37,681,557 N367I probably damaging Het
Pdrg1 T C 2: 153,012,390 I77V probably benign Het
Pfas T C 11: 68,991,069 E930G probably benign Het
Pik3cb C T 9: 99,061,764 R662Q probably benign Het
Pla2g4e T G 2: 120,186,382 H226P possibly damaging Het
Plxnd1 A T 6: 115,994,276 V177E probably damaging Het
Prmt7 A G 8: 106,250,329 S558G possibly damaging Het
Pspc1 A C 14: 56,777,789 probably null Het
Rilp T C 11: 75,512,760 S343P probably benign Het
Ror1 A G 4: 100,407,910 M194V probably damaging Het
Rsu1 T C 2: 13,170,004 Y225C probably damaging Het
Rundc1 A G 11: 101,433,926 N486S probably damaging Het
Sema6d T A 2: 124,654,231 I65N probably damaging Het
Spint1 T C 2: 119,246,460 S342P probably damaging Het
Stard3nl A G 13: 19,367,753 S214P probably damaging Het
Tcp10a A C 17: 7,336,924 T271P probably damaging Het
Tie1 A G 4: 118,472,634 Y1091H probably benign Het
Tlr12 T C 4: 128,617,332 Y375C probably benign Het
Tmem107 T A 11: 69,071,448 M77K probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Tns3 T C 11: 8,531,747 K202E probably damaging Het
Tspoap1 C T 11: 87,779,521 P1634L probably damaging Het
Ttc7b G A 12: 100,500,117 R79C probably damaging Het
Ush2a A G 1: 188,911,647 N4402S probably benign Het
Vmn2r13 A T 5: 109,156,456 I703N probably damaging Het
Xrcc4 A G 13: 90,062,007 probably null Het
Zp3 A T 5: 135,984,235 K168* probably null Het
Other mutations in Slc5a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Slc5a11 APN 7 123250174 missense probably null 0.72
IGL01670:Slc5a11 APN 7 123269949 missense probably benign
IGL01960:Slc5a11 APN 7 123269940 missense probably benign 0.00
IGL02512:Slc5a11 APN 7 123265255 missense probably damaging 0.96
IGL02637:Slc5a11 APN 7 123260505 critical splice acceptor site probably null
IGL02680:Slc5a11 APN 7 123265631 missense probably damaging 1.00
IGL03185:Slc5a11 APN 7 123265189 missense possibly damaging 0.61
R0454:Slc5a11 UTSW 7 123265235 missense possibly damaging 0.83
R0894:Slc5a11 UTSW 7 123258420 missense possibly damaging 0.91
R1501:Slc5a11 UTSW 7 123260508 missense probably damaging 1.00
R1879:Slc5a11 UTSW 7 123239448 missense possibly damaging 0.91
R2185:Slc5a11 UTSW 7 123273198 missense probably damaging 0.96
R2880:Slc5a11 UTSW 7 123239372 frame shift probably null
R2882:Slc5a11 UTSW 7 123239372 frame shift probably null
R2919:Slc5a11 UTSW 7 123239372 frame shift probably null
R3012:Slc5a11 UTSW 7 123239372 frame shift probably null
R4307:Slc5a11 UTSW 7 123269870 missense probably benign 0.01
R4405:Slc5a11 UTSW 7 123258477 missense probably damaging 1.00
R4510:Slc5a11 UTSW 7 123235635 missense probably benign 0.05
R4511:Slc5a11 UTSW 7 123235635 missense probably benign 0.05
R4660:Slc5a11 UTSW 7 123265263 missense probably damaging 1.00
R5822:Slc5a11 UTSW 7 123252431 missense probably damaging 1.00
R6641:Slc5a11 UTSW 7 123238155 missense probably benign 0.01
R6694:Slc5a11 UTSW 7 123267789 missense possibly damaging 0.65
R7078:Slc5a11 UTSW 7 123258446 missense probably damaging 1.00
R7580:Slc5a11 UTSW 7 123265198 missense probably damaging 1.00
R8088:Slc5a11 UTSW 7 123265728 missense probably benign 0.14
R8139:Slc5a11 UTSW 7 123269976 missense probably benign 0.00
R8302:Slc5a11 UTSW 7 123247939 missense probably damaging 1.00
R8680:Slc5a11 UTSW 7 123267752 missense probably benign 0.19
R9156:Slc5a11 UTSW 7 123265269 nonsense probably null
R9358:Slc5a11 UTSW 7 123258552 missense probably damaging 1.00
R9364:Slc5a11 UTSW 7 123269101 missense probably damaging 0.96
R9370:Slc5a11 UTSW 7 123235632 missense probably benign
Z1177:Slc5a11 UTSW 7 123239390 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAGAAGCAATCTACAGCAGGTATG -3'
(R):5'- AACGCATCTGAGAGGCCTTC -3'

Sequencing Primer
(F):5'- GCAATCTACAGCAGGTATGAAGAC -3'
(R):5'- CTGATCTGTACACCAATACCAGAGAG -3'
Posted On 2015-09-25