Incidental Mutation 'IGL02892:Slc5a5'
ID363256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a5
Ensembl Gene ENSMUSG00000000792
Gene Namesolute carrier family 5 (sodium iodide symporter), member 5
SynonymsNIS
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02892
Quality Score
Status
Chromosome8
Chromosomal Location70882889-70892757 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 70892517 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 49 (T49P)
Ref Sequence ENSEMBL: ENSMUSP00000000809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212378] [ENSMUST00000212494] [ENSMUST00000212709] [ENSMUST00000212796] [ENSMUST00000213053]
Predicted Effect probably damaging
Transcript: ENSMUST00000000809
AA Change: T49P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: T49P

DomainStartEndE-ValueType
Pfam:SSF 47 452 2.5e-43 PFAM
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054220
SMART Domains Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128

DomainStartEndE-ValueType
Pfam:Ribosomal_L18ae 7 130 1.4e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212019
Predicted Effect probably benign
Transcript: ENSMUST00000212129
Predicted Effect probably benign
Transcript: ENSMUST00000212378
Predicted Effect probably benign
Transcript: ENSMUST00000212494
Predicted Effect probably benign
Transcript: ENSMUST00000212709
Predicted Effect probably benign
Transcript: ENSMUST00000212796
Predicted Effect probably benign
Transcript: ENSMUST00000213053
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced T3 and T4 levels when fed a minimal iodine diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,604,997 L493* probably null Het
Adam32 T A 8: 24,878,711 probably benign Het
Alpk1 T C 3: 127,680,122 D744G possibly damaging Het
Arhgef12 A G 9: 43,000,972 V530A possibly damaging Het
Baz2b A T 2: 59,900,736 N2095K probably damaging Het
Btnl2 A T 17: 34,362,668 Q240L possibly damaging Het
Cd96 T C 16: 46,049,797 probably null Het
Cep350 G A 1: 155,868,806 T2089I possibly damaging Het
Chd9 T C 8: 90,976,915 probably benign Het
Cib4 C T 5: 30,544,707 probably benign Het
Cilp2 T C 8: 69,884,320 T280A probably benign Het
Coq5 T A 5: 115,294,817 probably benign Het
Cyth3 A G 5: 143,707,437 I339V possibly damaging Het
Dcaf7 T C 11: 106,046,692 V47A possibly damaging Het
Dcdc2c A G 12: 28,535,545 I151T probably benign Het
Defb7 T A 8: 19,497,662 F61Y probably benign Het
Diaph3 T A 14: 86,866,630 K773* probably null Het
Dmxl1 A G 18: 49,859,120 N311S probably damaging Het
Dnah7b G A 1: 46,119,298 R347H possibly damaging Het
Egflam C T 15: 7,289,796 V234I probably benign Het
Emilin3 C T 2: 160,909,149 V180M possibly damaging Het
Fam76b A T 9: 13,828,821 E50V probably null Het
Fat3 A T 9: 16,377,562 Y222N probably damaging Het
Grm7 A G 6: 111,254,020 N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 G172C probably damaging Het
Hmcn1 A C 1: 150,675,974 probably null Het
Hydin G A 8: 110,598,959 V4667M possibly damaging Het
Idh2 T C 7: 80,095,670 S408G probably benign Het
Kcng4 T C 8: 119,633,082 Q185R probably benign Het
Lamp3 A G 16: 19,676,052 V301A probably damaging Het
Lrrc23 T C 6: 124,774,436 N220S probably benign Het
Lrrc41 T A 4: 116,088,835 M249K possibly damaging Het
Ltbp4 T A 7: 27,310,649 D1162V probably damaging Het
Mlh1 T C 9: 111,252,969 I229V probably benign Het
Olfr108 T C 17: 37,446,034 L160P probably damaging Het
Plekhg2 T A 7: 28,362,917 D525V probably damaging Het
Plin4 T C 17: 56,105,108 K641R probably damaging Het
Plxnb2 A G 15: 89,161,222 probably null Het
Polr1a T C 6: 71,931,696 S502P possibly damaging Het
Prss16 A G 13: 22,003,050 V450A probably benign Het
Prss42 G A 9: 110,799,390 V201M probably damaging Het
Pus7 A T 5: 23,754,556 N322K probably damaging Het
Riok1 G T 13: 38,040,065 probably benign Het
Rmdn3 T A 2: 119,154,080 T64S probably benign Het
Rmnd5a T A 6: 71,414,814 M131L probably benign Het
Rtbdn C T 8: 84,955,089 R170C probably damaging Het
Sesn3 T C 9: 14,314,734 probably null Het
Slc2a6 A G 2: 27,024,293 Y271H probably benign Het
Slc7a10 T C 7: 35,195,168 V84A possibly damaging Het
Slc9a4 A G 1: 40,584,044 T148A possibly damaging Het
Smg1 T A 7: 118,167,955 probably benign Het
Snx19 T A 9: 30,428,364 V266E probably damaging Het
Synm T A 7: 67,735,056 I511F probably damaging Het
Tango6 T A 8: 106,742,010 probably benign Het
Tie1 T A 4: 118,486,282 D128V probably damaging Het
Timeless T C 10: 128,244,251 L423P probably damaging Het
Tln1 A G 4: 43,555,679 L145P probably damaging Het
Tmem8 A G 17: 26,119,120 Y466C probably damaging Het
Trp53i13 A T 11: 77,508,295 D376E probably damaging Het
Ubr4 A T 4: 139,417,331 I1484F probably damaging Het
Unc13a C T 8: 71,649,910 V943M probably damaging Het
Usp50 T C 2: 126,769,902 K301R probably damaging Het
Vmn1r62 G T 7: 5,676,203 M294I probably benign Het
Vps39 A G 2: 120,323,171 probably benign Het
Vwa8 T A 14: 79,103,700 probably benign Het
Wdr27 A T 17: 14,876,176 W748R possibly damaging Het
Other mutations in Slc5a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Slc5a5 APN 8 70888537 missense probably damaging 0.99
IGL01372:Slc5a5 APN 8 70890376 unclassified probably benign
IGL01394:Slc5a5 APN 8 70889388 nonsense probably null
IGL01571:Slc5a5 APN 8 70891332 unclassified probably benign
IGL02043:Slc5a5 APN 8 70892429 missense possibly damaging 0.84
IGL02186:Slc5a5 APN 8 70886120 missense possibly damaging 0.79
IGL02479:Slc5a5 APN 8 70888911 missense possibly damaging 0.67
IGL02559:Slc5a5 APN 8 70890271 missense probably damaging 1.00
IGL03388:Slc5a5 APN 8 70890328 missense probably benign 0.45
R0234:Slc5a5 UTSW 8 70889633 missense probably damaging 1.00
R0234:Slc5a5 UTSW 8 70889633 missense probably damaging 1.00
R0413:Slc5a5 UTSW 8 70891675 missense possibly damaging 0.63
R0662:Slc5a5 UTSW 8 70883875 missense probably benign 0.01
R0781:Slc5a5 UTSW 8 70890220 missense probably benign 0.19
R1061:Slc5a5 UTSW 8 70890221 missense probably benign 0.00
R1400:Slc5a5 UTSW 8 70889435 missense possibly damaging 0.87
R1524:Slc5a5 UTSW 8 70892334 missense probably damaging 1.00
R2033:Slc5a5 UTSW 8 70888587 missense probably damaging 0.99
R2072:Slc5a5 UTSW 8 70892439 missense possibly damaging 0.95
R2075:Slc5a5 UTSW 8 70892439 missense possibly damaging 0.95
R2110:Slc5a5 UTSW 8 70889751 intron probably null
R2111:Slc5a5 UTSW 8 70889751 intron probably null
R2112:Slc5a5 UTSW 8 70889751 intron probably null
R2201:Slc5a5 UTSW 8 70892458 missense probably damaging 0.98
R3978:Slc5a5 UTSW 8 70889395 missense probably benign 0.00
R4244:Slc5a5 UTSW 8 70890286 missense probably benign
R5161:Slc5a5 UTSW 8 70888848 missense probably damaging 1.00
R5397:Slc5a5 UTSW 8 70891179 missense probably damaging 1.00
R5718:Slc5a5 UTSW 8 70887755 missense probably benign 0.00
R5740:Slc5a5 UTSW 8 70888917 splice site probably null
R5869:Slc5a5 UTSW 8 70892330 missense probably damaging 1.00
R6268:Slc5a5 UTSW 8 70888620 missense probably damaging 1.00
R6290:Slc5a5 UTSW 8 70891178 missense probably damaging 1.00
R6292:Slc5a5 UTSW 8 70891178 missense probably damaging 1.00
Posted On2015-12-18