Incidental Mutation 'IGL01844:Slc35f5'
ID178134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35f5
Ensembl Gene ENSMUSG00000026342
Gene Namesolute carrier family 35, member F5
Synonyms1300003P13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.355) question?
Stock #IGL01844
Quality Score
Status
Chromosome1
Chromosomal Location125560595-125595820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 125589875 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 470 (T470I)
Ref Sequence ENSEMBL: ENSMUSP00000027580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027580]
Predicted Effect probably damaging
Transcript: ENSMUST00000027580
AA Change: T470I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: T470I

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
transmembrane domain 69 86 N/A INTRINSIC
transmembrane domain 101 120 N/A INTRINSIC
Pfam:EamA 226 317 2.1e-8 PFAM
transmembrane domain 329 348 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 397 419 N/A INTRINSIC
transmembrane domain 421 443 N/A INTRINSIC
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189443
AA Change: L111F

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,320 I115M probably damaging Het
Abcg5 A G 17: 84,682,025 I85T probably damaging Het
Amer2 A G 14: 60,379,907 D391G possibly damaging Het
Atp13a3 A T 16: 30,361,963 C83S probably benign Het
Bdh2 A T 3: 135,288,319 Q54L probably benign Het
Cep128 A G 12: 91,008,854 S1051P probably benign Het
Dopey1 A G 9: 86,514,085 T865A probably damaging Het
Epha8 C A 4: 136,931,049 *1005L probably null Het
Etl4 T C 2: 20,806,682 V1509A probably benign Het
Gucy1b1 T C 3: 82,046,526 E161G possibly damaging Het
Hepacam T A 9: 37,380,616 V80E probably damaging Het
Ireb2 A G 9: 54,865,357 K24E probably benign Het
Itch T A 2: 155,172,547 D101E possibly damaging Het
Itch T A 2: 155,172,486 F81Y possibly damaging Het
Klf7 C A 1: 64,078,774 Q221H probably benign Het
Kptn A G 7: 16,123,972 T242A probably benign Het
Macf1 A G 4: 123,440,692 F4420S probably benign Het
Mthfd2 A G 6: 83,311,810 probably null Het
Mtrf1l A C 10: 5,814,112 L284V probably null Het
Neb C T 2: 52,170,549 V2259I probably benign Het
Olfr1216 A T 2: 89,013,470 V198E possibly damaging Het
Olfr1499 A T 19: 13,814,816 M258K possibly damaging Het
Padi1 A T 4: 140,829,435 C154S probably damaging Het
Paxip1 T C 5: 27,751,038 T903A probably benign Het
Phactr2 T A 10: 13,253,437 L292F probably benign Het
Pkhd1l1 G A 15: 44,499,400 probably benign Het
Pnpla7 T C 2: 25,050,973 probably null Het
Rif1 T A 2: 52,112,543 I2003K probably benign Het
Rxfp3 A T 15: 11,037,046 V80E probably damaging Het
Sart3 T A 5: 113,745,648 K768* probably null Het
Smg8 A T 11: 87,080,276 Y890N probably damaging Het
Spata31 T C 13: 64,921,154 V372A possibly damaging Het
Tbc1d30 A T 10: 121,267,179 D649E probably benign Het
Tctn3 G A 19: 40,612,137 T3I probably damaging Het
Tns3 G A 11: 8,437,177 P1337S possibly damaging Het
Vmn2r15 T A 5: 109,286,269 *856C probably null Het
Vmn2r61 A T 7: 42,260,215 I55F probably benign Het
Zbtb41 C T 1: 139,447,327 P842S probably benign Het
Zc3h13 A G 14: 75,343,769 probably benign Het
Other mutations in Slc35f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Slc35f5 APN 1 125587424 missense probably damaging 1.00
IGL02218:Slc35f5 APN 1 125584555 missense probably damaging 1.00
IGL02586:Slc35f5 APN 1 125584536 missense probably damaging 1.00
IGL03000:Slc35f5 APN 1 125574742 missense probably damaging 1.00
IGL03160:Slc35f5 APN 1 125574735 missense probably damaging 1.00
IGL03181:Slc35f5 APN 1 125585185 missense probably damaging 1.00
IGL02984:Slc35f5 UTSW 1 125562513 missense probably benign 0.28
R0127:Slc35f5 UTSW 1 125576205 missense probably damaging 1.00
R0390:Slc35f5 UTSW 1 125585095 missense probably damaging 1.00
R0513:Slc35f5 UTSW 1 125576169 splice site probably benign
R1701:Slc35f5 UTSW 1 125570593 missense possibly damaging 0.77
R1716:Slc35f5 UTSW 1 125584532 missense possibly damaging 0.65
R2211:Slc35f5 UTSW 1 125579264 missense possibly damaging 0.74
R3024:Slc35f5 UTSW 1 125568598 missense probably benign 0.00
R3870:Slc35f5 UTSW 1 125562361 missense probably benign 0.00
R4239:Slc35f5 UTSW 1 125572474 missense possibly damaging 0.94
R4547:Slc35f5 UTSW 1 125572382 missense probably benign 0.00
R5622:Slc35f5 UTSW 1 125589956 missense probably damaging 1.00
R5688:Slc35f5 UTSW 1 125591038 missense probably benign 0.23
R5876:Slc35f5 UTSW 1 125587363 critical splice acceptor site probably null
R6701:Slc35f5 UTSW 1 125562610 missense probably damaging 1.00
R7292:Slc35f5 UTSW 1 125572485 missense probably damaging 0.99
R7368:Slc35f5 UTSW 1 125584519 missense probably damaging 1.00
R7530:Slc35f5 UTSW 1 125584538 missense probably damaging 1.00
R7807:Slc35f5 UTSW 1 125584541 missense probably damaging 1.00
R8004:Slc35f5 UTSW 1 125589887 missense probably damaging 0.98
Z1177:Slc35f5 UTSW 1 125560705 start gained probably benign
Z1177:Slc35f5 UTSW 1 125585234 critical splice donor site probably null
Posted On2014-05-07