Incidental Mutation 'R1501:Slc5a11'
ID 169270
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 040867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1501 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 122814003-122872476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122859731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 291 (V291E)
Ref Sequence ENSEMBL: ENSMUSP00000127977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033035] [ENSMUST00000131933] [ENSMUST00000167299]
AlphaFold Q8K0E3
Predicted Effect probably damaging
Transcript: ENSMUST00000033035
AA Change: V291E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: V291E

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: ENSMUST00000131933
AA Change: V291E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
AA Change: V291E

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:SSF 58 402 1.2e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167299
AA Change: V291E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: V291E

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 noncoding transcript
Transcript: ENSMUST00000206180
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Ehbp1l1 A G 19: 5,766,452 (GRCm39) V353A probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fhad1 C T 4: 141,691,936 (GRCm39) R400H probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Phldb2 T C 16: 45,598,146 (GRCm39) N802S probably damaging Het
Pik3c2g T C 6: 139,789,796 (GRCm39) probably null Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc6a19 C A 13: 73,832,167 (GRCm39) A470S probably benign Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G probably 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
R1879:Slc5a11 UTSW 7 122,838,671 (GRCm39) missense possibly damaging 0.91
R2185:Slc5a11 UTSW 7 122,872,421 (GRCm39) missense probably damaging 0.96
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'- CCCACTGGGGCTATCTTGGTAGAG -3'
(R):5'- TCTGCTCCTCACCTGGGAAGAG -3'

Sequencing Primer
(F):5'- tgctaaaccatctctccgac -3'
(R):5'- GAAGAGGACTCTGCTGACCATC -3'
Posted On 2014-04-13