Incidental Mutation 'IGL03277:Slc5a6'
ID415452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a6
Ensembl Gene ENSMUSG00000006641
Gene Namesolute carrier family 5 (sodium-dependent vitamin transporter), member 6
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03277
Quality Score
Status
Chromosome5
Chromosomal Location31036036-31048924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31038028 bp
ZygosityHeterozygous
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]
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: 108,301,219 T342A probably benign Het
B3glct T C 5: 149,726,834 L134P probably damaging Het
Bms1 A T 6: 118,405,122 M485K probably benign Het
Chd6 T C 2: 160,983,061 N1226S probably null Het
Cpne2 T C 8: 94,548,372 Y3H probably benign Het
Dmxl2 A G 9: 54,404,220 V1739A probably damaging Het
Dnah7a T A 1: 53,630,322 T543S probably benign Het
Dock11 T G X: 36,013,950 V1000G probably benign Het
Ednrb T A 14: 103,843,299 N60Y probably benign Het
Eif3d A G 15: 77,959,649 M499T possibly damaging Het
Elmod1 G A 9: 53,925,988 L178F probably damaging Het
Fam214a G A 9: 75,009,232 R371Q probably damaging Het
Hrh4 T C 18: 13,015,883 S101P probably damaging Het
Ift172 A G 5: 31,267,298 V684A possibly damaging Het
Mtx2 A G 2: 74,868,404 T124A probably damaging Het
Nat3 T A 8: 67,547,689 H73Q probably benign Het
Ndst2 A G 14: 20,730,166 L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 A162S probably benign Het
Olfr1030 T C 2: 85,984,173 I111T probably damaging Het
Olfr47 T G 6: 43,235,942 C111W probably damaging Het
Peg3 T C 7: 6,711,674 D183G probably damaging Het
Prlr A G 15: 10,328,801 E454G probably benign Het
Prom1 G A 5: 44,032,971 Q364* probably null Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sema5b A G 16: 35,651,312 D425G probably damaging Het
Slc16a7 A T 10: 125,230,691 C360S probably benign Het
Slc38a7 T A 8: 95,848,476 I59F probably damaging Het
Slc9b1 T C 3: 135,390,508 Y357H possibly damaging Het
Snx17 A T 5: 31,195,740 probably benign Het
Stk32b A C 5: 37,628,976 M48R probably damaging Het
Tspan9 A G 6: 127,967,075 probably null Het
Tst A T 15: 78,405,321 N171K probably damaging Het
Vmn1r180 T A 7: 23,953,285 I291N probably damaging Het
Vmn2r32 T A 7: 7,474,252 D380V probably benign Het
Wdfy4 T C 14: 33,068,904 T2189A probably benign Het
Zbtb20 A G 16: 43,618,437 N640S possibly damaging Het
Zfp142 A G 1: 74,571,034 S1098P probably damaging Het
Other mutations in Slc5a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Slc5a6 APN 5 31038935 unclassified probably benign
IGL02305:Slc5a6 APN 5 31037835 missense probably benign 0.01
IGL02457:Slc5a6 APN 5 31040658 missense probably damaging 1.00
IGL02691:Slc5a6 APN 5 31042174 missense probably damaging 0.99
IGL02737:Slc5a6 APN 5 31037167 missense probably benign 0.01
IGL03389:Slc5a6 APN 5 31037477 missense probably damaging 1.00
Burke UTSW 5 31036884 nonsense probably null
whig UTSW 5 31036811 missense probably damaging 1.00
F5770:Slc5a6 UTSW 5 31042613 unclassified probably null
R1177:Slc5a6 UTSW 5 31039302 critical splice donor site probably null
R1505:Slc5a6 UTSW 5 31037111 missense probably benign 0.00
R1680:Slc5a6 UTSW 5 31042644 missense probably damaging 1.00
R1800:Slc5a6 UTSW 5 31040676 nonsense probably null
R1881:Slc5a6 UTSW 5 31036811 missense probably damaging 1.00
R2216:Slc5a6 UTSW 5 31039335 missense possibly damaging 0.77
R3803:Slc5a6 UTSW 5 31042951 missense probably damaging 1.00
R4250:Slc5a6 UTSW 5 31037718 missense probably benign 0.00
R4765:Slc5a6 UTSW 5 31038083 missense possibly damaging 0.85
R4821:Slc5a6 UTSW 5 31036884 nonsense probably null
R5187:Slc5a6 UTSW 5 31042978 missense probably damaging 1.00
R5536:Slc5a6 UTSW 5 31043102 missense probably damaging 1.00
R5554:Slc5a6 UTSW 5 31038100 missense probably damaging 0.98
R5806:Slc5a6 UTSW 5 31040770 missense probably damaging 1.00
R6035:Slc5a6 UTSW 5 31048824 unclassified probably benign
R6035:Slc5a6 UTSW 5 31048824 unclassified probably benign
R6615:Slc5a6 UTSW 5 31036830 missense probably benign
R6621:Slc5a6 UTSW 5 31040778 missense probably damaging 0.98
R6983:Slc5a6 UTSW 5 31040405 missense probably benign
V7581:Slc5a6 UTSW 5 31042613 unclassified probably null
X0022:Slc5a6 UTSW 5 31043338 start codon destroyed probably null 0.97
Posted On2016-08-02