Incidental Mutation 'IGL03002:Tgoln1'
ID 407373
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 # IGL03002
Quality Score
Status
Chromosome 6
Chromosomal Location 72585415-72593983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72593055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
Ref Sequence ENSEMBL: ENSMUSP00000068487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070524]
AlphaFold Q62313
Predicted Effect possibly damaging
Transcript: ENSMUST00000070524
AA Change: S142P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: S142P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Tgoln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Tgoln1 APN 6 72,593,073 (GRCm39) missense probably benign 0.00
IGL00795:Tgoln1 APN 6 72,593,235 (GRCm39) missense probably benign 0.01
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 2016-08-02