Incidental Mutation 'R4721:Tvp23a'
ID 354494
Institutional Source Beutler Lab
Gene Symbol Tvp23a
Ensembl Gene ENSMUSG00000050908
Gene Name trans-golgi network vesicle protein 23A
Synonyms Fam18a
MMRRC Submission 041986-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4721 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10238421-10265226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10245275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 108 (K108R)
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 benign
Transcript: ENSMUST00000051118
AA Change: K108R

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908
AA Change: K108R

DomainStartEndE-ValueType
Pfam:DUF846 39 180 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153027
Meta Mutation Damage Score 0.1224 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,385,107 (GRCm39) D286G probably benign Het
Abca15 G A 7: 119,949,998 (GRCm39) E491K probably benign Het
Acsl5 A G 19: 55,268,962 (GRCm39) T208A probably benign Het
Adamts10 T A 17: 33,764,511 (GRCm39) probably null Het
Ahcyl1 T C 3: 107,577,233 (GRCm39) Q313R possibly damaging Het
Ccdc71 C T 9: 108,340,622 (GRCm39) S145L possibly damaging Het
Cep250 A G 2: 155,812,119 (GRCm39) T472A probably damaging Het
Copa T C 1: 171,931,841 (GRCm39) probably benign Het
Crybg1 C A 10: 43,873,883 (GRCm39) R1075L probably damaging Het
Ddr2 T A 1: 169,832,809 (GRCm39) K84* probably null Het
Ddx59 C T 1: 136,344,844 (GRCm39) P172S probably benign Het
Dhx34 T A 7: 15,931,307 (GRCm39) Q1118L possibly damaging Het
Dkkl1 T A 7: 44,857,232 (GRCm39) I112F probably damaging Het
Dnah8 T A 17: 30,944,140 (GRCm39) C1786S probably damaging Het
Eml6 T A 11: 29,788,525 (GRCm39) D520V possibly damaging Het
Ergic1 T A 17: 26,857,750 (GRCm39) V192E probably damaging Het
Fat3 T C 9: 15,941,262 (GRCm39) E1343G probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm15446 C T 5: 110,090,866 (GRCm39) H373Y probably damaging Het
Gpr157 A T 4: 150,183,420 (GRCm39) N197Y probably benign Het
Grid2 G A 6: 64,643,185 (GRCm39) M982I probably benign Het
Hey2 G T 10: 30,710,304 (GRCm39) R150S possibly damaging Het
Hmcn1 T C 1: 150,648,322 (GRCm39) probably null Het
Ighv3-3 G A 12: 114,160,156 (GRCm39) R85* probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Igsf21 A G 4: 139,834,621 (GRCm39) S84P probably benign Het
Kif20b A G 19: 34,915,773 (GRCm39) T517A probably benign Het
Krt87 T C 15: 101,385,863 (GRCm39) E244G probably damaging Het
Lrp1 T C 10: 127,390,928 (GRCm39) T2990A possibly damaging Het
Lrp1b T A 2: 40,605,381 (GRCm39) probably null Het
Lrrc42 A T 4: 107,091,050 (GRCm39) S382T probably benign Het
Magi2 C T 5: 20,739,467 (GRCm39) R737W probably damaging Het
Mcc A G 18: 44,652,623 (GRCm39) L267P probably damaging Het
Mzf1 T A 7: 12,777,223 (GRCm39) Q727L possibly damaging Het
Mzf1 C T 7: 12,777,448 (GRCm39) R652Q possibly damaging Het
Nkain3 C T 4: 20,485,015 (GRCm39) A21T probably damaging Het
Nlrp4e T A 7: 23,020,521 (GRCm39) V336E possibly damaging Het
Nptn C T 9: 58,548,059 (GRCm39) R155C probably damaging Het
Nr2c2 T C 6: 92,116,828 (GRCm39) I10T possibly damaging Het
Or12e13 T A 2: 87,663,515 (GRCm39) I44N probably damaging Het
Or1e26 C T 11: 73,480,273 (GRCm39) C97Y probably damaging Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Pdzk1 G T 3: 96,776,518 (GRCm39) E493* probably null Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Polr3b T C 10: 84,491,867 (GRCm39) V342A possibly damaging Het
Prg3 T C 2: 84,821,750 (GRCm39) V125A possibly damaging Het
Raph1 G A 1: 60,542,160 (GRCm39) probably benign Het
Rassf2 A G 2: 131,846,358 (GRCm39) V133A probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rbpjl A C 2: 164,246,447 (GRCm39) S31R probably benign Het
Reln A G 5: 22,124,220 (GRCm39) V2762A probably damaging Het
Rxrg T A 1: 167,452,621 (GRCm39) I141N probably damaging Het
Scn7a C A 2: 66,514,529 (GRCm39) G1082C probably damaging Het
Selenon C A 4: 134,270,387 (GRCm39) E322* probably null Het
Sipa1 C T 19: 5,710,413 (GRCm39) R199Q probably damaging Het
Slc26a7 A T 4: 14,510,261 (GRCm39) probably null Het
Slc37a4 T C 9: 44,312,787 (GRCm39) S314P possibly damaging Het
Smarce1 T C 11: 99,111,543 (GRCm39) I59V probably benign Het
Stk19 T C 17: 35,042,120 (GRCm39) probably null Het
Susd2 C T 10: 75,473,964 (GRCm39) D544N probably benign Het
Tcf7l2 G T 19: 55,919,886 (GRCm39) R465L possibly damaging Het
Tfap2d T A 1: 19,174,984 (GRCm39) S146T possibly damaging Het
Tmem156 A G 5: 65,248,870 (GRCm39) F10S probably benign Het
Tmem63c G T 12: 87,103,954 (GRCm39) A68S possibly damaging Het
Tnfrsf21 T C 17: 43,396,395 (GRCm39) C560R probably damaging Het
Trav10n C T 14: 53,359,590 (GRCm39) T7I probably benign Het
Ttc38 C T 15: 85,722,947 (GRCm39) R132W probably benign Het
Vmn1r233 T C 17: 21,214,879 (GRCm39) M24V probably benign Het
Vmn1r88 T A 7: 12,912,451 (GRCm39) L269* probably null Het
Vmn2r101 T A 17: 19,832,287 (GRCm39) M761K probably damaging Het
Vps13b C T 15: 35,910,864 (GRCm39) Q3543* probably null Het
Wdr37 T C 13: 8,904,065 (GRCm39) E101G possibly damaging Het
Zc3hc1 A G 6: 30,374,899 (GRCm39) V214A probably benign Het
Zcchc9 A T 13: 91,948,728 (GRCm39) probably null Het
Zdbf2 A T 1: 63,347,951 (GRCm39) Q2110L possibly damaging Het
Zfp516 T G 18: 82,975,236 (GRCm39) L478R possibly 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
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
R9343:Tvp23a UTSW 16 10,245,287 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGGGACAGCCAGTATAGC -3'
(R):5'- TTCTGTGGGAGTTTACAACCAAC -3'

Sequencing Primer
(F):5'- CCTGAAACTGGCTTTGTAGACCAG -3'
(R):5'- AACATTAGTTGTGTGCACTGCAC -3'
Posted On 2015-10-21