Incidental Mutation 'IGL00795:Tgoln1'
ID 14446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgoln1
Ensembl Gene ENSMUSG00000056429
Gene Name trans-golgi network protein
Synonyms TGN38A, Ttgn1, D6Ertd384e, TGN38
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL00795
Quality Score
Status
Chromosome 6
Chromosomal Location 72585415-72593983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72593235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 82 (A82T)
Ref Sequence ENSEMBL: ENSMUSP00000068487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070524]
AlphaFold Q62313
Predicted Effect probably benign
Transcript: ENSMUST00000070524
AA Change: A82T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: A82T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 58 74 N/A INTRINSIC
low complexity region 238 260 N/A INTRINSIC
transmembrane domain 300 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172588
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,153 (GRCm39) R50G probably damaging Het
Ap1m1 A G 8: 73,007,353 (GRCm39) N308S probably damaging Het
Bub1 A G 2: 127,663,735 (GRCm39) V222A probably benign Het
Ccdc91 G T 6: 147,409,305 (GRCm39) D4Y probably damaging Het
Defb21 A G 2: 152,416,665 (GRCm39) D47G probably benign Het
Dnah17 C A 11: 117,984,460 (GRCm39) C1607F probably benign Het
Hycc2 C T 1: 58,591,338 (GRCm39) E102K probably damaging Het
Insc T C 7: 114,441,389 (GRCm39) L401P probably damaging Het
Kif18a A T 2: 109,123,365 (GRCm39) N213I probably damaging Het
Mapre1 A G 2: 153,588,234 (GRCm39) D19G probably damaging Het
Mettl8 A T 2: 70,812,434 (GRCm39) I32N probably damaging Het
Mroh9 T A 1: 162,888,191 (GRCm39) T295S probably damaging Het
Pum3 T A 19: 27,399,758 (GRCm39) Y225F probably damaging Het
Tas2r131 G A 6: 132,934,554 (GRCm39) T85I possibly damaging Het
Tbcd T G 11: 121,507,758 (GRCm39) I1193S probably benign Het
Other mutations in Tgoln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Tgoln1 APN 6 72,593,073 (GRCm39) missense probably benign 0.00
IGL03002:Tgoln1 APN 6 72,593,055 (GRCm39) missense possibly damaging 0.83
IGL03136:Tgoln1 APN 6 72,591,096 (GRCm39) missense probably damaging 1.00
FR4340:Tgoln1 UTSW 6 72,593,334 (GRCm39) small insertion probably benign
R0684:Tgoln1 UTSW 6 72,592,974 (GRCm39) missense probably benign 0.00
R1656:Tgoln1 UTSW 6 72,591,068 (GRCm39) missense probably damaging 0.99
R1920:Tgoln1 UTSW 6 72,593,084 (GRCm39) missense probably benign 0.01
R2057:Tgoln1 UTSW 6 72,592,653 (GRCm39) missense probably benign 0.35
R4097:Tgoln1 UTSW 6 72,592,784 (GRCm39) missense probably damaging 0.98
R4559:Tgoln1 UTSW 6 72,592,664 (GRCm39) missense probably damaging 0.98
R4995:Tgoln1 UTSW 6 72,593,123 (GRCm39) missense possibly damaging 0.92
R5566:Tgoln1 UTSW 6 72,593,018 (GRCm39) missense possibly damaging 0.92
R6224:Tgoln1 UTSW 6 72,592,984 (GRCm39) missense possibly damaging 0.81
R6814:Tgoln1 UTSW 6 72,592,538 (GRCm39) missense possibly damaging 0.90
R6872:Tgoln1 UTSW 6 72,592,538 (GRCm39) missense possibly damaging 0.90
R7178:Tgoln1 UTSW 6 72,593,028 (GRCm39) missense probably benign 0.01
R7339:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7342:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7347:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7348:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7366:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7368:Tgoln1 UTSW 6 72,593,261 (GRCm39) missense probably benign 0.03
R7491:Tgoln1 UTSW 6 72,593,403 (GRCm39) missense unknown
R8277:Tgoln1 UTSW 6 72,593,838 (GRCm39) start gained probably benign
R8979:Tgoln1 UTSW 6 72,593,262 (GRCm39) missense probably benign 0.00
R9566:Tgoln1 UTSW 6 72,592,911 (GRCm39) missense probably benign 0.00
RF003:Tgoln1 UTSW 6 72,593,335 (GRCm39) nonsense probably null
RF023:Tgoln1 UTSW 6 72,593,063 (GRCm39) small insertion probably benign
RF028:Tgoln1 UTSW 6 72,593,019 (GRCm39) small insertion probably benign
RF030:Tgoln1 UTSW 6 72,593,046 (GRCm39) small insertion probably benign
RF030:Tgoln1 UTSW 6 72,593,019 (GRCm39) small insertion probably benign
RF032:Tgoln1 UTSW 6 72,593,057 (GRCm39) small insertion probably benign
RF032:Tgoln1 UTSW 6 72,593,046 (GRCm39) small insertion probably benign
RF037:Tgoln1 UTSW 6 72,593,019 (GRCm39) small insertion probably benign
RF040:Tgoln1 UTSW 6 72,593,057 (GRCm39) small insertion probably benign
RF042:Tgoln1 UTSW 6 72,593,057 (GRCm39) small insertion probably benign
RF043:Tgoln1 UTSW 6 72,593,046 (GRCm39) small insertion probably benign
RF043:Tgoln1 UTSW 6 72,593,019 (GRCm39) small insertion probably benign
RF057:Tgoln1 UTSW 6 72,593,052 (GRCm39) small insertion probably benign
Posted On 2012-12-06