Incidental Mutation 'R4596:Slc35f6'
ID 344379
Institutional Source Beutler Lab
Gene Symbol Slc35f6
Ensembl Gene ENSMUSG00000029175
Gene Name solute carrier family 35, member F6
Synonyms p40, 4930471M23Rik, Tango9, 5730478O19Rik
MMRRC Submission 041812-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4596 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 30805277-30817073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30805406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 14 (M14T)
Ref Sequence ENSEMBL: ENSMUSP00000120986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062962] [ENSMUST00000124474] [ENSMUST00000143867] [ENSMUST00000196740]
AlphaFold Q8VE96
Predicted Effect possibly damaging
Transcript: ENSMUST00000062962
AA Change: M14T

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058680
Gene: ENSMUSG00000029175
AA Change: M14T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:EamA 27 160 2.5e-9 PFAM
Pfam:Nuc_sug_transp 43 226 1.7e-12 PFAM
Pfam:SLC35F 54 233 8.8e-14 PFAM
transmembrane domain 259 281 N/A INTRINSIC
transmembrane domain 301 323 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124474
AA Change: M14T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120986
Gene: ENSMUSG00000029175
AA Change: M14T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131978
Predicted Effect probably benign
Transcript: ENSMUST00000143867
AA Change: M14T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122703
Gene: ENSMUSG00000029175
AA Change: M14T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176598
Predicted Effect probably benign
Transcript: ENSMUST00000196740
SMART Domains Protein: ENSMUSP00000142761
Gene: ENSMUSG00000029175

DomainStartEndE-ValueType
Pfam:TPT 5 104 1.1e-4 PFAM
Pfam:EamA 7 107 4.2e-8 PFAM
Pfam:Nuc_sug_transp 21 175 1.6e-10 PFAM
Pfam:DUF914 30 179 9.3e-11 PFAM
transmembrane domain 206 228 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198025
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,088 (GRCm39) K429E probably benign Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adad1 T C 3: 37,119,341 (GRCm39) S141P probably damaging Het
Anapc4 T C 5: 52,999,060 (GRCm39) V124A probably benign Het
Anxa6 G T 11: 54,885,409 (GRCm39) probably null Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arhgef40 T C 14: 52,224,681 (GRCm39) probably null Het
Asz1 A T 6: 18,103,592 (GRCm39) I116K possibly damaging Het
Bcam T C 7: 19,498,082 (GRCm39) N314D probably damaging Het
Cfi T C 3: 129,662,149 (GRCm39) V376A probably damaging Het
Cipc A G 12: 87,008,728 (GRCm39) T196A probably benign Het
Cnksr1 A G 4: 133,961,189 (GRCm39) V225A possibly damaging Het
Col4a4 G A 1: 82,448,940 (GRCm39) P1217S unknown Het
Dync2h1 C T 9: 6,992,595 (GRCm39) D3996N probably benign Het
Fasl T C 1: 161,615,838 (GRCm39) N6S probably benign Het
Fhod3 A T 18: 25,248,775 (GRCm39) Q1318L probably benign Het
Gmps G T 3: 63,901,338 (GRCm39) E386* probably null Het
Hspa13 C T 16: 75,555,114 (GRCm39) G324D probably benign Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Itgb1bp1 C A 12: 21,322,135 (GRCm39) L101F probably damaging Het
Jak3 T A 8: 72,137,275 (GRCm39) S779T probably damaging Het
Klhl21 G T 4: 152,096,997 (GRCm39) R421L probably benign Het
Mgat4c T C 10: 102,224,422 (GRCm39) F212S probably damaging Het
Msl3l2 T A 10: 55,991,741 (GRCm39) F155L probably benign Het
Nfat5 A G 8: 108,078,132 (GRCm39) K406E possibly damaging Het
Nsd2 A T 5: 34,040,262 (GRCm39) H933L probably damaging Het
Or4c31 A G 2: 88,292,538 (GRCm39) T304A probably benign Het
Or51h5 A G 7: 102,577,458 (GRCm39) T208A possibly damaging Het
Or6f1 A T 7: 85,970,631 (GRCm39) H176Q probably damaging Het
Or9q2 G A 19: 13,772,264 (GRCm39) T237I probably damaging Het
Paxbp1 T C 16: 90,827,435 (GRCm39) I467V probably benign Het
Pcdha8 A C 18: 37,126,611 (GRCm39) Q364H possibly damaging Het
Prr14l T C 5: 32,986,652 (GRCm39) T948A probably benign Het
Ptgfr A T 3: 151,507,430 (GRCm39) V311D probably damaging Het
Ptpn13 A G 5: 103,671,558 (GRCm39) Y495C probably benign Het
Sec61g A T 11: 16,458,127 (GRCm39) S23T probably benign Het
Sema3a G T 5: 13,620,125 (GRCm39) V458F probably damaging Het
Slc16a14 T A 1: 84,907,078 (GRCm39) E65D probably damaging Het
Slc4a10 A T 2: 62,127,202 (GRCm39) I882F probably damaging Het
Sox17 C A 1: 4,562,860 (GRCm39) E48D possibly damaging Het
Thbs1 A T 2: 117,945,236 (GRCm39) I270F possibly damaging Het
Tia1 A G 6: 86,397,389 (GRCm39) I121V probably benign Het
Trim30d A T 7: 104,121,733 (GRCm39) H337Q probably benign Het
Tvp23b G A 11: 62,774,544 (GRCm39) A63T probably benign Het
U2surp C T 9: 95,367,681 (GRCm39) V437I probably damaging Het
Ube2i T C 17: 25,484,298 (GRCm39) probably benign Het
Vmn1r62 A G 7: 5,678,306 (GRCm39) probably benign Het
Wdr3 G A 3: 100,060,183 (GRCm39) S310F possibly damaging Het
Wdr72 A T 9: 74,058,887 (GRCm39) M327L probably benign Het
Other mutations in Slc35f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4665:Slc35f6 UTSW 5 30,812,957 (GRCm39) missense probably damaging 0.99
R4666:Slc35f6 UTSW 5 30,812,957 (GRCm39) missense probably damaging 0.99
R4994:Slc35f6 UTSW 5 30,805,427 (GRCm39) missense probably damaging 1.00
R6500:Slc35f6 UTSW 5 30,814,164 (GRCm39) missense possibly damaging 0.90
R6682:Slc35f6 UTSW 5 30,814,764 (GRCm39) missense possibly damaging 0.81
R7107:Slc35f6 UTSW 5 30,814,121 (GRCm39) missense probably damaging 1.00
R7117:Slc35f6 UTSW 5 30,815,051 (GRCm39) missense probably damaging 1.00
R7219:Slc35f6 UTSW 5 30,814,796 (GRCm39) missense probably benign 0.02
R7852:Slc35f6 UTSW 5 30,814,159 (GRCm39) missense possibly damaging 0.88
R8292:Slc35f6 UTSW 5 30,813,375 (GRCm39) missense probably benign 0.25
R9242:Slc35f6 UTSW 5 30,805,410 (GRCm39) start gained probably benign
R9571:Slc35f6 UTSW 5 30,815,180 (GRCm39) missense possibly damaging 0.88
Z1176:Slc35f6 UTSW 5 30,815,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCCTACCAAAGACCGGTG -3'
(R):5'- TCAAAGTGGCCTTCAAATGCCC -3'

Sequencing Primer
(F):5'- TACCAAAGACCGGTGGCAGC -3'
(R):5'- AAATGCCCGCTTTCTCCCG -3'
Posted On 2015-09-25