Incidental Mutation 'IGL00662:Slc35f5'
ID 14089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35f5
Ensembl Gene ENSMUSG00000026342
Gene Name solute carrier family 35, member F5
Synonyms 1300003P13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL00662
Quality Score
Status
Chromosome 1
Chromosomal Location 125488332-125523557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125515161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 438 (L438H)
Ref Sequence ENSEMBL: ENSMUSP00000027580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027580]
AlphaFold Q8R314
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: 100,939,103 (GRCm39) N587S probably benign Het
Bcar3 C T 3: 122,306,585 (GRCm39) A186V probably benign Het
Bcr A T 10: 75,003,932 (GRCm39) probably benign Het
Cd207 A G 6: 83,652,908 (GRCm39) I74T possibly damaging Het
Cenpn T C 8: 117,655,326 (GRCm39) probably null Het
Chuk A T 19: 44,085,649 (GRCm39) F228I possibly damaging Het
Cmss1 T C 16: 57,124,092 (GRCm39) D233G probably damaging Het
Copg1 C T 6: 87,879,352 (GRCm39) T466I possibly damaging Het
Ctsll3 A G 13: 60,946,756 (GRCm39) S288P probably benign Het
Fat3 T A 9: 15,907,723 (GRCm39) I2760F possibly damaging Het
Gpi1 A G 7: 33,915,375 (GRCm39) probably benign Het
Il18rap C T 1: 40,581,081 (GRCm39) R318C probably benign Het
Kcnk9 A G 15: 72,417,924 (GRCm39) S69P probably benign Het
Kctd18 T C 1: 57,995,897 (GRCm39) T127A probably damaging Het
Khk T C 5: 31,087,019 (GRCm39) probably benign Het
Ncapg T A 5: 45,850,502 (GRCm39) S703T possibly damaging Het
Nup98 T A 7: 101,844,194 (GRCm39) N47I probably damaging Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Rigi A G 4: 40,220,389 (GRCm39) probably benign Het
Slc7a2 A G 8: 41,358,659 (GRCm39) Y334C possibly damaging Het
Spata17 T C 1: 186,849,536 (GRCm39) N124S probably benign Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tnpo3 A T 6: 29,565,845 (GRCm39) L503* probably null Het
Utrn C T 10: 12,540,705 (GRCm39) E1907K probably damaging Het
Vav3 T A 3: 109,435,708 (GRCm39) probably benign Het
Vps13a T A 19: 16,681,904 (GRCm39) K1033I probably damaging Het
Zfp202 A G 9: 40,122,339 (GRCm39) N367S probably benign Het
Other mutations in Slc35f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Slc35f5 APN 1 125,517,612 (GRCm39) missense probably damaging 0.96
IGL02218:Slc35f5 APN 1 125,512,292 (GRCm39) missense probably damaging 1.00
IGL02586:Slc35f5 APN 1 125,512,273 (GRCm39) missense probably damaging 1.00
IGL03000:Slc35f5 APN 1 125,502,479 (GRCm39) missense probably damaging 1.00
IGL03160:Slc35f5 APN 1 125,502,472 (GRCm39) missense probably damaging 1.00
IGL03181:Slc35f5 APN 1 125,512,922 (GRCm39) missense probably damaging 1.00
IGL02984:Slc35f5 UTSW 1 125,490,250 (GRCm39) missense probably benign 0.28
R0127:Slc35f5 UTSW 1 125,503,942 (GRCm39) missense probably damaging 1.00
R0390:Slc35f5 UTSW 1 125,512,832 (GRCm39) missense probably damaging 1.00
R0513:Slc35f5 UTSW 1 125,503,906 (GRCm39) splice site probably benign
R1701:Slc35f5 UTSW 1 125,498,330 (GRCm39) missense possibly damaging 0.77
R1716:Slc35f5 UTSW 1 125,512,269 (GRCm39) missense possibly damaging 0.65
R2211:Slc35f5 UTSW 1 125,507,001 (GRCm39) missense possibly damaging 0.74
R3024:Slc35f5 UTSW 1 125,496,335 (GRCm39) missense probably benign 0.00
R3870:Slc35f5 UTSW 1 125,490,098 (GRCm39) missense probably benign 0.00
R4239:Slc35f5 UTSW 1 125,500,211 (GRCm39) missense possibly damaging 0.94
R4547:Slc35f5 UTSW 1 125,500,119 (GRCm39) missense probably benign 0.00
R5622:Slc35f5 UTSW 1 125,517,693 (GRCm39) missense probably damaging 1.00
R5688:Slc35f5 UTSW 1 125,518,775 (GRCm39) missense probably benign 0.23
R5876:Slc35f5 UTSW 1 125,515,100 (GRCm39) critical splice acceptor site probably null
R6701:Slc35f5 UTSW 1 125,490,347 (GRCm39) missense probably damaging 1.00
R7292:Slc35f5 UTSW 1 125,500,222 (GRCm39) missense probably damaging 0.99
R7368:Slc35f5 UTSW 1 125,512,256 (GRCm39) missense probably damaging 1.00
R7530:Slc35f5 UTSW 1 125,512,275 (GRCm39) missense probably damaging 1.00
R7807:Slc35f5 UTSW 1 125,512,278 (GRCm39) missense probably damaging 1.00
R8004:Slc35f5 UTSW 1 125,517,624 (GRCm39) missense probably damaging 0.98
R8289:Slc35f5 UTSW 1 125,490,252 (GRCm39) nonsense probably null
R8435:Slc35f5 UTSW 1 125,488,994 (GRCm39) nonsense probably null
R9011:Slc35f5 UTSW 1 125,490,050 (GRCm39) missense probably benign 0.03
R9339:Slc35f5 UTSW 1 125,517,628 (GRCm39) missense probably benign 0.34
R9365:Slc35f5 UTSW 1 125,496,333 (GRCm39) missense probably benign 0.08
Z1177:Slc35f5 UTSW 1 125,512,971 (GRCm39) critical splice donor site probably null
Z1177:Slc35f5 UTSW 1 125,488,442 (GRCm39) start gained probably benign
Posted On 2012-12-06