Incidental Mutation 'IGL00662:Slc35f5'
ID14089
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: 0.303) question?
Stock #IGL00662
Quality Score
Status
Chromosome1
Chromosomal Location125560595-125595820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125587424 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 438 (L438H)
Ref Sequence ENSEMBL: ENSMUSP00000027580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027580]
Predicted Effect probably damaging
Transcript: ENSMUST00000027580
AA Change: L438H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: L438H

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 unknown
Transcript: ENSMUST00000189443
AA Change: L88H
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,289,896 N587S probably benign Het
Bcar3 C T 3: 122,512,936 A186V probably benign Het
Bcr A T 10: 75,168,100 probably benign Het
Cd207 A G 6: 83,675,926 I74T possibly damaging Het
Cenpn T C 8: 116,928,587 probably null Het
Chuk A T 19: 44,097,210 F228I possibly damaging Het
Cmss1 T C 16: 57,303,729 D233G probably damaging Het
Copg1 C T 6: 87,902,370 T466I possibly damaging Het
Ctsll3 A G 13: 60,798,942 S288P probably benign Het
Ddx58 A G 4: 40,220,389 probably benign Het
Fat3 T A 9: 15,996,427 I2760F possibly damaging Het
Gpi1 A G 7: 34,215,950 probably benign Het
Il18rap C T 1: 40,541,921 R318C probably benign Het
Kcnk9 A G 15: 72,546,075 S69P probably benign Het
Kctd18 T C 1: 57,956,738 T127A probably damaging Het
Khk T C 5: 30,929,675 probably benign Het
Ncapg T A 5: 45,693,160 S703T possibly damaging Het
Nup98 T A 7: 102,194,987 N47I probably damaging Het
Rad1 A G 15: 10,490,409 N154S probably benign Het
Slc7a2 A G 8: 40,905,622 Y334C possibly damaging Het
Spata17 T C 1: 187,117,339 N124S probably benign Het
Tfap2c T C 2: 172,551,518 Y118H probably damaging Het
Tnpo3 A T 6: 29,565,846 L503* probably null Het
Utrn C T 10: 12,664,961 E1907K probably damaging Het
Vav3 T A 3: 109,528,392 probably benign Het
Vps13a T A 19: 16,704,540 K1033I probably damaging Het
Zfp202 A G 9: 40,211,043 N367S probably benign Het
Other mutations in Slc35f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Slc35f5 APN 1 125589875 missense probably damaging 0.96
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
Posted On2012-12-06