Incidental Mutation 'IGL02457:Slc5a6'
ID 294440
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 # IGL02457
Quality Score
Status
Chromosome 5
Chromosomal Location 31193380-31206268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31198002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 291 (L291P)
Ref Sequence ENSEMBL: ENSMUSP00000143993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000200816] [ENSMUST00000202520] [ENSMUST00000202556] [ENSMUST00000202984]
AlphaFold Q5U4D8
Predicted Effect probably damaging
Transcript: ENSMUST00000080431
AA Change: L291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: L291P

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 damaging
Transcript: ENSMUST00000114668
AA Change: L291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: L291P

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: ENSMUST00000200816
SMART Domains Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201017
Predicted Effect probably damaging
Transcript: ENSMUST00000202520
AA Change: L291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: L291P

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 damaging
Transcript: ENSMUST00000202556
AA Change: L291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: L291P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly 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
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
IGL03277:Slc5a6 APN 5 31,195,372 (GRCm39) missense possibly damaging 0.90
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 2015-04-16