Incidental Mutation 'R9289:Tbc1d20'
ID 704127
Institutional Source Beutler Lab
Gene Symbol Tbc1d20
Ensembl Gene ENSMUSG00000027465
Gene Name TBC1 domain family, member 20
Synonyms bs, 1110028I04Rik, 2810442O16Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R9289 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152135748-152155916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152153262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 264 (V264A)
Ref Sequence ENSEMBL: ENSMUSP00000028963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000028964] [ENSMUST00000109847] [ENSMUST00000144252] [ENSMUST00000147591]
AlphaFold Q9D9I4
Predicted Effect probably damaging
Transcript: ENSMUST00000028963
AA Change: V264A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: V264A

DomainStartEndE-ValueType
TBC 56 268 6.19e-5 SMART
low complexity region 304 323 N/A INTRINSIC
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028964
SMART Domains Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466

DomainStartEndE-ValueType
PDB:4DBG|A 37 137 2e-60 PDB
Blast:UBQ 59 133 2e-15 BLAST
low complexity region 143 152 N/A INTRINSIC
ZnF_RBZ 193 217 5.25e-5 SMART
low complexity region 232 256 N/A INTRINSIC
RING 280 324 2.67e-5 SMART
Pfam:IBR 346 409 1.5e-9 PFAM
Pfam:IBR 422 483 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109847
SMART Domains Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466

DomainStartEndE-ValueType
PDB:4DBG|A 37 137 2e-60 PDB
Blast:UBQ 59 133 2e-15 BLAST
low complexity region 143 152 N/A INTRINSIC
ZnF_RBZ 193 217 5.25e-5 SMART
low complexity region 232 256 N/A INTRINSIC
RING 280 324 2.67e-5 SMART
Blast:IBR 427 507 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000144252
SMART Domains Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 8 80 5.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147591
SMART Domains Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 11 155 2e-24 PFAM
Meta Mutation Damage Score 0.3796 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,333 (GRCm39) T306I probably benign Het
Aurkb T C 11: 68,941,175 (GRCm39) I250T probably damaging Het
C1qtnf1 A G 11: 118,334,672 (GRCm39) T51A probably benign Het
C1rb G T 6: 124,552,272 (GRCm39) R330L possibly damaging Het
Cd8b1 G A 6: 71,306,777 (GRCm39) probably null Het
Cep57l1 A T 10: 41,607,082 (GRCm39) D160E probably damaging Het
Ces1f C T 8: 93,992,491 (GRCm39) S320N probably benign Het
Cfap54 A G 10: 92,656,936 (GRCm39) S3039P possibly damaging Het
Chia1 A T 3: 106,022,502 (GRCm39) probably benign Het
Chka T G 19: 3,935,953 (GRCm39) F220V possibly damaging Het
Cmtm2b A G 8: 105,048,980 (GRCm39) probably benign Het
Dgcr8 C T 16: 18,098,079 (GRCm39) probably benign Het
Dhx30 T C 9: 109,920,603 (GRCm39) T304A possibly damaging Het
Dhx30 A T 9: 109,922,189 (GRCm39) D164E probably benign Het
Dip2b A T 15: 100,071,152 (GRCm39) K661I probably damaging Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dop1b T A 16: 93,568,681 (GRCm39) L1581H probably damaging Het
Fam219a C A 4: 41,521,942 (GRCm39) G46V probably damaging Het
Fer1l6 G A 15: 58,490,766 (GRCm39) V1028M probably damaging Het
Glb1 C A 9: 114,249,558 (GRCm39) A129E probably damaging Het
Heatr1 T C 13: 12,447,608 (GRCm39) V1767A probably benign Het
Ift88 T A 14: 57,718,199 (GRCm39) S591T probably benign Het
Itgb4 A G 11: 115,885,187 (GRCm39) K1023R probably benign Het
Mfng C A 15: 78,643,457 (GRCm39) S250I probably damaging Het
Mmp9 A G 2: 164,796,800 (GRCm39) T723A probably benign Het
Mzf1 T A 7: 12,785,534 (GRCm39) H299L probably benign Het
Naa40 T C 19: 7,211,485 (GRCm39) K47E possibly damaging Het
Ncdn A C 4: 126,643,903 (GRCm39) F306L possibly damaging Het
Notch3 A G 17: 32,377,254 (GRCm39) C246R probably damaging Het
Npc1l1 A T 11: 6,168,355 (GRCm39) Y945* probably null Het
Or2av9 T A 11: 58,380,745 (GRCm39) I279L probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2y14 C T 11: 49,404,635 (GRCm39) P57S probably damaging Het
Or52n5 T C 7: 104,587,816 (GRCm39) W28R probably damaging Het
Pcnx1 C A 12: 82,028,853 (GRCm39) D1044E Het
Pgm2l1 T A 7: 99,919,629 (GRCm39) I575K probably damaging Het
Plat T C 8: 23,272,100 (GRCm39) I553T probably damaging Het
Prrc2c A G 1: 162,507,130 (GRCm39) V2513A probably benign Het
Qser1 A T 2: 104,617,593 (GRCm39) V983E possibly damaging Het
Ring1 A G 17: 34,241,547 (GRCm39) S190P possibly damaging Het
Rnf150 A G 8: 83,716,982 (GRCm39) E163G probably benign Het
Scgb2b12 T C 7: 32,026,060 (GRCm39) H44R probably benign Het
Septin4 T A 11: 87,459,792 (GRCm39) C513* probably null Het
Shtn1 T C 19: 58,998,257 (GRCm39) K379E probably damaging Het
Slc52a2 G T 15: 76,424,475 (GRCm39) V238L probably benign Het
Smg1 T C 7: 117,744,639 (GRCm39) H3171R possibly damaging Het
Tada3 A G 6: 113,347,264 (GRCm39) V342A possibly damaging Het
Tmco5 G A 2: 116,710,745 (GRCm39) A22T probably benign Het
Tmem63b A G 17: 45,975,697 (GRCm39) F549S probably benign Het
Trav16d-dv11 T C 14: 53,285,086 (GRCm39) F54S probably benign Het
Trim7 A T 11: 48,736,281 (GRCm39) K5* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zfp78 T C 7: 6,381,367 (GRCm39) I139T probably benign Het
Zfp839 T A 12: 110,834,878 (GRCm39) V711D probably benign Het
Other mutations in Tbc1d20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02055:Tbc1d20 APN 2 152,149,978 (GRCm39) missense probably damaging 0.99
IGL03111:Tbc1d20 APN 2 152,149,998 (GRCm39) missense probably damaging 1.00
R0014:Tbc1d20 UTSW 2 152,153,701 (GRCm39) missense probably benign 0.34
R2484:Tbc1d20 UTSW 2 152,153,283 (GRCm39) missense probably damaging 1.00
R3683:Tbc1d20 UTSW 2 152,153,737 (GRCm39) missense probably benign 0.05
R4352:Tbc1d20 UTSW 2 152,150,114 (GRCm39) intron probably benign
R4815:Tbc1d20 UTSW 2 152,153,909 (GRCm39) unclassified probably benign
R4908:Tbc1d20 UTSW 2 152,144,228 (GRCm39) missense probably benign 0.08
R5010:Tbc1d20 UTSW 2 152,135,856 (GRCm39) unclassified probably benign
R5635:Tbc1d20 UTSW 2 152,153,381 (GRCm39) missense probably benign 0.18
R5800:Tbc1d20 UTSW 2 152,150,245 (GRCm39) splice site probably null
R5832:Tbc1d20 UTSW 2 152,153,282 (GRCm39) missense possibly damaging 0.93
R7193:Tbc1d20 UTSW 2 152,153,337 (GRCm39) missense probably benign 0.01
R7346:Tbc1d20 UTSW 2 152,146,881 (GRCm39) missense probably benign 0.02
R7705:Tbc1d20 UTSW 2 152,150,004 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d20 UTSW 2 152,150,013 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d20 UTSW 2 152,149,928 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGACAAGTGTCCAGTGTG -3'
(R):5'- GATTTCCAACTGCCCCACTG -3'

Sequencing Primer
(F):5'- AGACAAGTGTCCAGTGTGTGTGTAG -3'
(R):5'- ACTGCAGCAGCCACAGC -3'
Posted On 2022-03-25