Incidental Mutation 'R5187:Slc5a6'
ID 397955
Institutional Source Beutler Lab
Gene Symbol Slc5a6
Ensembl Gene ENSMUSG00000006641
Gene Name solute carrier family 5 (sodium-dependent vitamin transporter), member 6
Synonyms
MMRRC Submission 042766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5187 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31193380-31206268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31200322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 121 (Y121C)
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: ENSMUST00000006817
AA Change: Y121C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000006817
Gene: ENSMUSG00000006641
AA Change: Y121C

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: ENSMUST00000080431
AA Change: Y121C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: Y121C

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: Y121C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: Y121C

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: Y121C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: Y121C

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: Y121C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: Y121C

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcg5 A G 17: 84,965,992 (GRCm39) L628S probably damaging Het
Acbd3 C T 1: 180,564,297 (GRCm39) R201* probably null Het
Adsl A G 15: 80,833,106 (GRCm39) probably benign Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cachd1 T C 4: 100,823,397 (GRCm39) V483A possibly damaging Het
Calm1 T C 12: 100,166,472 (GRCm39) S19P probably benign Het
Casq1 T C 1: 172,040,641 (GRCm39) N313S possibly damaging Het
Cav2 G T 6: 17,286,935 (GRCm39) A64S possibly damaging Het
Ccdc167 C A 17: 29,924,485 (GRCm39) A39S possibly damaging Het
Cd274 T C 19: 29,359,936 (GRCm39) L247P probably benign Het
Cdhr5 T C 7: 140,854,361 (GRCm39) E138G probably damaging Het
Cltb C T 13: 54,741,693 (GRCm39) C81Y probably benign Het
Clvs1 T C 4: 9,281,865 (GRCm39) L103P possibly damaging Het
Cntrob G T 11: 69,212,717 (GRCm39) Q106K possibly damaging Het
Ctsh T C 9: 89,936,643 (GRCm39) L14P probably damaging Het
Cubn T C 2: 13,292,379 (GRCm39) N3268S probably damaging Het
Cyb5r4 T C 9: 86,909,001 (GRCm39) V26A possibly damaging Het
Ddx18 A G 1: 121,489,857 (GRCm39) I184T probably damaging Het
Ddx60 T A 8: 62,427,222 (GRCm39) W766R probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah5 G A 15: 28,272,318 (GRCm39) V1041I probably benign Het
Dnajc21 A T 15: 10,464,050 (GRCm39) N38K probably benign Het
Ermap T C 4: 119,043,015 (GRCm39) probably null Het
Fryl A G 5: 73,243,943 (GRCm39) L1209P possibly damaging Het
Gm5093 T C 17: 46,750,799 (GRCm39) E76G possibly damaging Het
Grk6 T C 13: 55,599,519 (GRCm39) C169R probably damaging Het
Hmgn1 A T 16: 95,923,627 (GRCm39) probably null Het
Lpcat2b T A 5: 107,582,001 (GRCm39) Y443* probably null Het
Macf1 T A 4: 123,365,882 (GRCm39) M1395L probably benign Het
Mllt10 C T 2: 18,213,585 (GRCm39) Q997* probably null Het
Mocos T A 18: 24,825,611 (GRCm39) V722E probably damaging Het
Moxd2 A T 6: 40,856,271 (GRCm39) L534M probably benign Het
Mphosph10 T C 7: 64,035,568 (GRCm39) M368V possibly damaging Het
Myo15a G A 11: 60,394,440 (GRCm39) G2383D probably damaging Het
Myo5b T C 18: 74,834,745 (GRCm39) I935T possibly damaging Het
Ndst4 T A 3: 125,231,560 (GRCm39) L43H probably damaging Het
Niban1 T A 1: 151,579,580 (GRCm39) L433Q possibly damaging Het
Nsl1 A G 1: 190,807,387 (GRCm39) N189D probably benign Het
Odad1 A G 7: 45,578,540 (GRCm39) I77V probably damaging Het
Or51e1 A T 7: 102,358,868 (GRCm39) H134L probably damaging Het
Pcdh8 T C 14: 80,007,594 (GRCm39) D323G probably damaging Het
Pkhd1 A G 1: 20,279,448 (GRCm39) S2957P possibly damaging Het
Prdm9 T G 17: 15,783,155 (GRCm39) E42D probably damaging Het
Rasal1 C A 5: 120,813,460 (GRCm39) H611Q probably benign Het
Relch T A 1: 105,646,534 (GRCm39) L620* probably null Het
Rif1 T A 2: 51,971,301 (GRCm39) W260R probably damaging Het
Rpain A G 11: 70,864,658 (GRCm39) D115G probably benign Het
Rpl3l T C 17: 24,951,429 (GRCm39) V110A possibly damaging Het
Ryr2 T A 13: 11,787,338 (GRCm39) I1012F probably damaging Het
Sema4f A G 6: 82,894,631 (GRCm39) V480A probably benign Het
Slc35a3 T A 3: 116,474,794 (GRCm39) K199N probably damaging Het
Slc7a14 T C 3: 31,291,514 (GRCm39) probably null Het
Sort1 T A 3: 108,231,992 (GRCm39) I172N probably damaging Het
Spink5 C A 18: 44,122,518 (GRCm39) H328N probably damaging Het
Tbl1xr1 A G 3: 22,263,770 (GRCm39) D504G probably damaging Het
Tcaf3 C T 6: 42,573,954 (GRCm39) C86Y possibly damaging Het
Tfap2e T C 4: 126,628,434 (GRCm39) D174G probably benign Het
Tmem42 T C 9: 122,851,232 (GRCm39) V65A probably damaging Het
Vmn1r225 C G 17: 20,723,177 (GRCm39) T206R probably damaging Het
Vmn2r38 A G 7: 9,100,571 (GRCm39) F65S probably benign Het
Vmn2r87 A T 10: 130,333,208 (GRCm39) L14Q probably null Het
Xirp2 T C 2: 67,345,711 (GRCm39) S2651P probably benign Het
Zfp429 G A 13: 67,538,959 (GRCm39) L162F probably damaging Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGCATAACTCCTCTTGGG -3'
(R):5'- TCTATCATGCTTGTCGTGGC -3'

Sequencing Primer
(F):5'- CCTCTTGGGAAATACTGAGAGACTC -3'
(R):5'- CCATACCGTTGGTGAACTGCTG -3'
Posted On 2016-07-06