Incidental Mutation 'R4633:Tvp23a'
ID 349384
Institutional Source Beutler Lab
Gene Symbol Tvp23a
Ensembl Gene ENSMUSG00000050908
Gene Name trans-golgi network vesicle protein 23A
Synonyms Fam18a
MMRRC Submission 041898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4633 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10238421-10265226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10244909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 146 (V146M)
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: V146M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908
AA Change: V146M

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 0.4299 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Cd44 T G 2: 102,683,392 (GRCm39) D214A possibly damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erbb2 T A 11: 98,323,814 (GRCm39) I676N possibly damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2l13b C T 16: 19,349,034 (GRCm39) G212D possibly damaging Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Prpf4b A G 13: 35,084,425 (GRCm39) T938A probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Usp48 A G 4: 137,362,211 (GRCm39) K32R probably damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G 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
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
R9343:Tvp23a UTSW 16 10,245,287 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGACATTGTGATATAACTCCAC -3'
(R):5'- ACAGGTTCCCAAGTTGTGTG -3'

Sequencing Primer
(F):5'- GTGATATAACTCCACAAGATTGACAG -3'
(R):5'- GTGGTGGTAATGCACACCTTTAATC -3'
Posted On 2015-10-08