Incidental Mutation 'IGL03277:Slc5a6'
ID 415452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a6
Ensembl Gene ENSMUSG00000006641
Gene Name solute carrier family 5 (sodium-dependent vitamin transporter), member 6
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03277
Quality Score
Status
Chromosome 5
Chromosomal Location 31193380-31206268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31195372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 449 (C449R)
Ref Sequence ENSEMBL: ENSMUSP00000143993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000202520] [ENSMUST00000202556] [ENSMUST00000202984]
AlphaFold Q5U4D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000080431
AA Change: C449R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: C449R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114668
AA Change: C449R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: C449R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201017
Predicted Effect possibly damaging
Transcript: ENSMUST00000202520
AA Change: C449R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: C449R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202556
AA Change: C449R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: C449R

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202984
SMART Domains Protein: ENSMUSP00000144349
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
Pfam:SSF 2 104 6.3e-15 PFAM
transmembrane domain 158 180 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,178,418 (GRCm39) T342A probably benign Het
Atosa G A 9: 74,916,514 (GRCm39) R371Q probably damaging Het
B3glct T C 5: 149,650,299 (GRCm39) L134P probably damaging Het
Bms1 A T 6: 118,382,083 (GRCm39) M485K probably benign Het
Chd6 T C 2: 160,824,981 (GRCm39) N1226S probably null Het
Cpne2 T C 8: 95,275,000 (GRCm39) Y3H probably benign Het
Dmxl2 A G 9: 54,311,504 (GRCm39) V1739A probably damaging Het
Dnah7a T A 1: 53,669,481 (GRCm39) T543S probably benign Het
Dock11 T G X: 35,277,603 (GRCm39) V1000G probably benign Het
Ednrb T A 14: 104,080,735 (GRCm39) N60Y probably benign Het
Eif3d A G 15: 77,843,849 (GRCm39) M499T possibly damaging Het
Elmod1 G A 9: 53,833,272 (GRCm39) L178F probably damaging Het
Hrh4 T C 18: 13,148,940 (GRCm39) S101P probably damaging Het
Ift172 A G 5: 31,424,642 (GRCm39) V684A possibly damaging Het
Mtx2 A G 2: 74,698,748 (GRCm39) T124A probably damaging Het
Nat3 T A 8: 68,000,341 (GRCm39) H73Q probably benign Het
Ndst2 A G 14: 20,780,234 (GRCm39) L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 (GRCm39) A162S probably benign Het
Or2a57 T G 6: 43,212,876 (GRCm39) C111W probably damaging Het
Or5m5 T C 2: 85,814,517 (GRCm39) I111T probably damaging Het
Peg3 T C 7: 6,714,673 (GRCm39) D183G probably damaging Het
Prlr A G 15: 10,328,887 (GRCm39) E454G probably benign Het
Prom1 G A 5: 44,190,313 (GRCm39) Q364* probably null Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sema5b A G 16: 35,471,682 (GRCm39) D425G probably damaging Het
Slc16a7 A T 10: 125,066,560 (GRCm39) C360S probably benign Het
Slc38a7 T A 8: 96,575,104 (GRCm39) I59F probably damaging Het
Slc9b1 T C 3: 135,096,269 (GRCm39) Y357H possibly damaging Het
Snx17 A T 5: 31,353,084 (GRCm39) probably benign Het
Stk32b A C 5: 37,786,320 (GRCm39) M48R probably damaging Het
Tspan9 A G 6: 127,944,038 (GRCm39) probably null Het
Tst A T 15: 78,289,521 (GRCm39) N171K probably damaging Het
Vmn1r180 T A 7: 23,652,710 (GRCm39) I291N probably damaging Het
Vmn2r32 T A 7: 7,477,251 (GRCm39) D380V probably benign Het
Wdfy4 T C 14: 32,790,861 (GRCm39) T2189A probably benign Het
Zbtb20 A G 16: 43,438,800 (GRCm39) N640S possibly damaging Het
Zfp142 A G 1: 74,610,193 (GRCm39) S1098P probably damaging Het
Other mutations in Slc5a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Slc5a6 APN 5 31,196,279 (GRCm39) unclassified probably benign
IGL02305:Slc5a6 APN 5 31,195,179 (GRCm39) missense probably benign 0.01
IGL02457:Slc5a6 APN 5 31,198,002 (GRCm39) missense probably damaging 1.00
IGL02691:Slc5a6 APN 5 31,199,518 (GRCm39) missense probably damaging 0.99
IGL02737:Slc5a6 APN 5 31,194,511 (GRCm39) missense probably benign 0.01
IGL03389:Slc5a6 APN 5 31,194,821 (GRCm39) missense probably damaging 1.00
Burke UTSW 5 31,194,228 (GRCm39) nonsense probably null
whig UTSW 5 31,194,155 (GRCm39) missense probably damaging 1.00
F5770:Slc5a6 UTSW 5 31,199,957 (GRCm39) splice site probably null
R1177:Slc5a6 UTSW 5 31,196,646 (GRCm39) critical splice donor site probably null
R1505:Slc5a6 UTSW 5 31,194,455 (GRCm39) missense probably benign 0.00
R1680:Slc5a6 UTSW 5 31,199,988 (GRCm39) missense probably damaging 1.00
R1800:Slc5a6 UTSW 5 31,198,020 (GRCm39) nonsense probably null
R1881:Slc5a6 UTSW 5 31,194,155 (GRCm39) missense probably damaging 1.00
R2216:Slc5a6 UTSW 5 31,196,679 (GRCm39) missense possibly damaging 0.77
R3803:Slc5a6 UTSW 5 31,200,295 (GRCm39) missense probably damaging 1.00
R4250:Slc5a6 UTSW 5 31,195,062 (GRCm39) missense probably benign 0.00
R4765:Slc5a6 UTSW 5 31,195,427 (GRCm39) missense possibly damaging 0.85
R4821:Slc5a6 UTSW 5 31,194,228 (GRCm39) nonsense probably null
R5187:Slc5a6 UTSW 5 31,200,322 (GRCm39) missense probably damaging 1.00
R5536:Slc5a6 UTSW 5 31,200,446 (GRCm39) missense probably damaging 1.00
R5554:Slc5a6 UTSW 5 31,195,444 (GRCm39) missense probably damaging 0.98
R5806:Slc5a6 UTSW 5 31,198,114 (GRCm39) missense probably damaging 1.00
R6035:Slc5a6 UTSW 5 31,206,168 (GRCm39) unclassified probably benign
R6035:Slc5a6 UTSW 5 31,206,168 (GRCm39) unclassified probably benign
R6615:Slc5a6 UTSW 5 31,194,174 (GRCm39) missense probably benign
R6621:Slc5a6 UTSW 5 31,198,122 (GRCm39) missense probably damaging 0.98
R6983:Slc5a6 UTSW 5 31,197,749 (GRCm39) missense probably benign
R7989:Slc5a6 UTSW 5 31,199,480 (GRCm39) critical splice donor site probably null
R8433:Slc5a6 UTSW 5 31,194,806 (GRCm39) missense possibly damaging 0.54
R9180:Slc5a6 UTSW 5 31,195,190 (GRCm39) missense probably damaging 0.97
R9390:Slc5a6 UTSW 5 31,197,803 (GRCm39) missense possibly damaging 0.65
R9628:Slc5a6 UTSW 5 31,197,746 (GRCm39) missense probably benign 0.00
V7581:Slc5a6 UTSW 5 31,199,957 (GRCm39) splice site probably null
X0022:Slc5a6 UTSW 5 31,200,682 (GRCm39) start codon destroyed probably null 0.97
Z1176:Slc5a6 UTSW 5 31,195,369 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02