Incidental Mutation 'IGL01476:Slc35f2'
ID88473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35f2
Ensembl Gene ENSMUSG00000042195
Gene Namesolute carrier family 35, member F2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01476
Quality Score
Status
Chromosome9
Chromosomal Location53771538-53818154 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53806706 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 168 (V168A)
Ref Sequence ENSEMBL: ENSMUSP00000046528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048670]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048670
AA Change: V168A

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046528
Gene: ENSMUSG00000042195
AA Change: V168A

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:SLC35F 35 334 7.2e-148 PFAM
Pfam:CRT-like 47 255 4.5e-14 PFAM
Pfam:EamA 196 334 2.1e-10 PFAM
low complexity region 339 352 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216515
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Cdk8 A G 5: 146,295,163 probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Olfr701 G A 7: 106,818,620 C179Y probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Tasp1 A G 2: 140,008,773 L110S probably benign Het
Thnsl1 T A 2: 21,212,159 D241E probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G probably damaging Het
Other mutations in Slc35f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Slc35f2 APN 9 53798014 critical splice donor site probably null
IGL01732:Slc35f2 APN 9 53806625 missense probably damaging 1.00
IGL02719:Slc35f2 APN 9 53809742 splice site probably benign
R0449:Slc35f2 UTSW 9 53816917 missense probably damaging 1.00
R1268:Slc35f2 UTSW 9 53797913 nonsense probably null
R1539:Slc35f2 UTSW 9 53809708 missense possibly damaging 0.66
R3886:Slc35f2 UTSW 9 53816957 missense probably benign 0.00
R4748:Slc35f2 UTSW 9 53771785 start codon destroyed probably benign 0.23
R4779:Slc35f2 UTSW 9 53809729 missense possibly damaging 0.80
R5438:Slc35f2 UTSW 9 53801018 missense probably benign
R7308:Slc35f2 UTSW 9 53798010 missense probably benign 0.00
Posted On2013-11-18