Incidental Mutation 'R6843:Tvp23a'
ID 534640
Institutional Source Beutler Lab
Gene Symbol Tvp23a
Ensembl Gene ENSMUSG00000050908
Gene Name trans-golgi network vesicle protein 23A
Synonyms Fam18a
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 10238421-10265226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10264884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 9 (A9V)
Ref Sequence ENSEMBL: ENSMUSP00000116076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051118] [ENSMUST00000128288]
AlphaFold Q6NVH0
Predicted Effect probably benign
Transcript: ENSMUST00000051118
AA Change: A9V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908
AA Change: A9V

DomainStartEndE-ValueType
Pfam:DUF846 39 180 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128288
AA Change: A9V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign 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
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'- ACAGCAGTTGTTCCGTGTATTTC -3'
(R):5'- AGTGTCAAGTGGTACCCAGG -3'

Sequencing Primer
(F):5'- TCCGTGTATTTCGAATGAATGAG -3'
(R):5'- CTGCATTGGGAGGTAGATGCAC -3'
Posted On 2018-09-12