Incidental Mutation 'IGL00901:Tvp23b'
ID 28484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tvp23b
Ensembl Gene ENSMUSG00000014177
Gene Name trans-golgi network vesicle protein 23B
Synonyms Fam18b, 1810036I24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00901
Quality Score
Status
Chromosome 11
Chromosomal Location 62770281-62786012 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 62774606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014321]
AlphaFold Q9D8T4
Predicted Effect probably benign
Transcript: ENSMUST00000014321
SMART Domains Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177

DomainStartEndE-ValueType
Pfam:DUF846 32 174 9.5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154176
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,153,250 (GRCm39) Y164C probably benign Het
Anpep A G 7: 79,489,171 (GRCm39) S334P probably benign Het
Arhgef1 A G 7: 24,612,118 (GRCm39) E129G probably damaging Het
Bmt2 G T 6: 13,628,748 (GRCm39) H312N probably damaging Het
Brme1 A G 8: 84,893,400 (GRCm39) D189G probably damaging Het
Ces2g A G 8: 105,691,761 (GRCm39) Y272C probably benign Het
Cfap69 T A 5: 5,669,162 (GRCm39) probably benign Het
Cftr T C 6: 18,268,429 (GRCm39) probably null Het
Clec2g A G 6: 128,925,655 (GRCm39) probably benign Het
Cyp2b9 A T 7: 25,897,930 (GRCm39) I245F probably damaging Het
Fbxo6 T A 4: 148,230,600 (GRCm39) I221F probably damaging Het
Fbxw21 A C 9: 108,985,467 (GRCm39) C104G probably benign Het
Flna A G X: 73,273,534 (GRCm39) S101P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift88 T A 14: 57,681,902 (GRCm39) F229I probably damaging Het
Map2k3 T C 11: 60,832,747 (GRCm39) S31P probably benign Het
Mia2 A G 12: 59,154,815 (GRCm39) D176G probably damaging Het
Or12d2 T G 17: 37,624,598 (GRCm39) K226Q possibly damaging Het
Or12e10 A G 2: 87,640,992 (GRCm39) Y276C probably damaging Het
Or14j6 T A 17: 38,215,148 (GRCm39) V237D probably damaging Het
Pde7b C T 10: 20,494,875 (GRCm39) probably null Het
Polr3b T C 10: 84,467,660 (GRCm39) I80T possibly damaging Het
Prpf4b T A 13: 35,078,465 (GRCm39) Y692N probably damaging Het
Rabl2 T C 15: 89,474,473 (GRCm39) probably benign Het
Rasgrp1 T C 2: 117,115,611 (GRCm39) K659R probably damaging Het
Ryr3 A T 2: 112,716,934 (GRCm39) S774T probably damaging Het
Sema5b C T 16: 35,471,685 (GRCm39) T426M probably damaging Het
Serpinb10 A G 1: 107,468,726 (GRCm39) K123R probably benign Het
Slc33a1 T C 3: 63,871,433 (GRCm39) D60G probably benign Het
Tnks A T 8: 35,305,549 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,937,669 (GRCm39) Q1218L probably damaging Het
Other mutations in Tvp23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Tvp23b APN 11 62,774,464 (GRCm39) missense probably damaging 0.97
IGL02004:Tvp23b APN 11 62,782,826 (GRCm39) missense probably damaging 1.00
Chipotle UTSW 11 62,770,424 (GRCm39) splice site probably null
R0117:Tvp23b UTSW 11 62,770,430 (GRCm39) unclassified probably benign
R3838:Tvp23b UTSW 11 62,774,455 (GRCm39) missense possibly damaging 0.84
R4596:Tvp23b UTSW 11 62,774,544 (GRCm39) missense probably benign
R4840:Tvp23b UTSW 11 62,770,424 (GRCm39) splice site probably null
R6952:Tvp23b UTSW 11 62,775,952 (GRCm39) missense possibly damaging 0.50
R7499:Tvp23b UTSW 11 62,770,289 (GRCm39) unclassified probably benign
R7516:Tvp23b UTSW 11 62,782,867 (GRCm39) missense possibly damaging 0.77
R8511:Tvp23b UTSW 11 62,774,563 (GRCm39) missense possibly damaging 0.90
R9206:Tvp23b UTSW 11 62,772,842 (GRCm39) missense possibly damaging 0.49
Z1186:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1187:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1188:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1189:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1190:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1191:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Z1192:Tvp23b UTSW 11 62,772,769 (GRCm39) missense possibly damaging 0.77
Posted On 2013-04-17