Incidental Mutation 'R9343:Tvp23a'
ID 716000
Institutional Source Beutler Lab
Gene Symbol Tvp23a
Ensembl Gene ENSMUSG00000050908
Gene Name trans-golgi network vesicle protein 23A
Synonyms Fam18a
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9343 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 10238421-10265226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10245287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000052922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023146] [ENSMUST00000051118] [ENSMUST00000128288]
AlphaFold Q6NVH0
Predicted Effect probably benign
Transcript: ENSMUST00000023146
SMART Domains Protein: ENSMUSP00000023146
Gene: ENSMUSG00000022503

DomainStartEndE-ValueType
AAA 54 210 6.23e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000051118
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908
AA Change: D104G

DomainStartEndE-ValueType
Pfam:DUF846 39 180 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128288
Meta Mutation Damage Score 0.6991 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,547,505 (GRCm39) I960V probably benign Het
Alpk3 A G 7: 80,742,079 (GRCm39) D632G probably benign Het
Aplp2 A T 9: 31,122,935 (GRCm39) L30Q unknown Het
Axl A T 7: 25,473,544 (GRCm39) Y361N probably damaging Het
Brinp2 A T 1: 158,077,090 (GRCm39) probably benign Het
Bsn T C 9: 107,992,701 (GRCm39) D1017G probably damaging Het
Cc2d2a A T 5: 43,875,999 (GRCm39) D1046V probably damaging Het
Cdc42bpg G A 19: 6,364,553 (GRCm39) G594S probably damaging Het
Clcn6 A G 4: 148,098,458 (GRCm39) S519P probably benign Het
Cnot2 T G 10: 116,346,326 (GRCm39) H92P Het
Col2a1 T C 15: 97,877,775 (GRCm39) D1049G probably damaging Het
Creld1 C T 6: 113,466,728 (GRCm39) A237V probably benign Het
Csf2rb2 A T 15: 78,171,287 (GRCm39) probably benign Het
Csmd3 G A 15: 48,015,001 (GRCm39) T643I probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fcmr A T 1: 130,802,072 (GRCm39) T109S Het
Grap C A 11: 61,562,551 (GRCm39) P174Q possibly damaging Het
Itgb5 T A 16: 33,730,826 (GRCm39) probably benign Het
Kidins220 A G 12: 25,058,078 (GRCm39) N561S probably damaging Het
Mri1 A T 8: 84,983,796 (GRCm39) S32T probably benign Het
Mrtfb T C 16: 13,218,791 (GRCm39) V479A probably benign Het
Muc4 A T 16: 32,569,971 (GRCm39) T344S possibly damaging Het
Npc1 A G 18: 12,334,769 (GRCm39) I661T possibly damaging Het
Npy1r A G 8: 67,156,751 (GRCm39) N57S probably damaging Het
Pds5b A G 5: 150,704,186 (GRCm39) D863G probably damaging Het
Phf14 T A 6: 11,961,563 (GRCm39) V400D probably damaging Het
Polr2l A G 7: 141,053,246 (GRCm39) I56T probably benign Het
Ppat A G 5: 77,063,884 (GRCm39) I422T probably benign Het
Prkcg T A 7: 3,359,124 (GRCm39) S110R possibly damaging Het
Rab7b A T 1: 131,639,540 (GRCm39) probably benign Het
Rnf152 A T 1: 105,212,251 (GRCm39) L102Q Het
Samd12 A G 15: 53,583,088 (GRCm39) V82A probably damaging Het
Serpina1e T A 12: 103,917,299 (GRCm39) R123S probably benign Het
Slit1 T A 19: 41,615,737 (GRCm39) N794I probably damaging Het
Surf6 T C 2: 26,783,006 (GRCm39) K154R probably damaging Het
Tln2 C T 9: 67,230,353 (GRCm39) A71T probably benign Het
Trim3 A G 7: 105,260,673 (GRCm39) Y649H probably benign Het
Ttll7 T A 3: 146,667,497 (GRCm39) W808R probably damaging Het
Upp2 A G 2: 58,645,339 (GRCm39) probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r119 A G 7: 20,746,358 (GRCm39) V8A probably benign Het
Vmn1r209 T A 13: 22,990,546 (GRCm39) H48L probably damaging Het
Wdr11 T C 7: 129,232,523 (GRCm39) probably null Het
Zcchc17 T C 4: 130,210,546 (GRCm39) D207G probably damaging Het
Zfp78 T C 7: 6,381,942 (GRCm39) S331P probably damaging Het
Other mutations in Tvp23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1556:Tvp23a UTSW 16 10,264,862 (GRCm39) missense probably damaging 1.00
R1691:Tvp23a UTSW 16 10,246,551 (GRCm39) missense possibly damaging 0.59
R4384:Tvp23a UTSW 16 10,246,546 (GRCm39) missense probably benign 0.06
R4633:Tvp23a UTSW 16 10,244,909 (GRCm39) missense probably benign 0.04
R4721:Tvp23a UTSW 16 10,245,275 (GRCm39) missense probably benign 0.16
R6843:Tvp23a UTSW 16 10,264,884 (GRCm39) missense probably benign
R7076:Tvp23a UTSW 16 10,246,599 (GRCm39) missense probably benign 0.22
R7619:Tvp23a UTSW 16 10,246,602 (GRCm39) missense probably damaging 1.00
R7774:Tvp23a UTSW 16 10,245,245 (GRCm39) critical splice donor site probably null
R9018:Tvp23a UTSW 16 10,264,846 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGGGGACAGCCAGTATAG -3'
(R):5'- AACATTAGTTGTGTGCACTGC -3'

Sequencing Primer
(F):5'- CCTGAAACTGGCTTTGTAGACCAG -3'
(R):5'- TGCACTGCACGAAACTAATACTC -3'
Posted On 2022-06-15