Incidental Mutation 'IGL01670:Slc5a11'
ID103438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a11
Ensembl Gene ENSMUSG00000030769
Gene Namesolute carrier family 5 (sodium/glucose cotransporter), member 11
Synonyms2010013B02Rik, Kst1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL01670
Quality Score
Status
Chromosome7
Chromosomal Location123214780-123273253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 123269949 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 587 (A587T)
Ref Sequence ENSEMBL: ENSMUSP00000127977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033035] [ENSMUST00000131933] [ENSMUST00000167299]
Predicted Effect probably benign
Transcript: ENSMUST00000033035
AA Change: A587T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: A587T

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
SMART Domains Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769

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: A587T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: A587T

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Myl12a T C 17: 70,996,853 T10A probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nkx6-1 T A 5: 101,661,940 Q247L probably benign Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Olfr558 A T 7: 102,709,565 Q102L probably damaging Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Rtn4ip1 A G 10: 43,928,326 M1V probably null Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tcf20 T C 15: 82,855,363 N629S possibly damaging Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Slc5a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Slc5a11 APN 7 123250174 missense probably null 0.72
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
R4599:Slc5a11 UTSW 7 123258378 missense probably benign 0.00
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
Posted On2014-01-21