Incidental Mutation 'R7705:Tbc1d20'
ID 594217
Institutional Source Beutler Lab
Gene Symbol Tbc1d20
Ensembl Gene ENSMUSG00000027465
Gene Name TBC1 domain family, member 20
Synonyms bs, 1110028I04Rik, 2810442O16Rik
MMRRC Submission 045766-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R7705 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152135748-152155916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 152150004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 144 (G144R)
Ref Sequence ENSEMBL: ENSMUSP00000028963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000144252] [ENSMUST00000147591]
AlphaFold Q9D9I4
Predicted Effect probably damaging
Transcript: ENSMUST00000028963
AA Change: G144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: G144R

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: ENSMUST00000144252
SMART Domains Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 8 80 5.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147591
AA Change: G93R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465
AA Change: G93R

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 11 155 2e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 G A 3: 59,784,168 (GRCm39) A214T probably benign Het
Abcb9 G T 5: 124,220,018 (GRCm39) Y342* probably null Het
Acad9 C T 3: 36,142,675 (GRCm39) T470M probably benign Het
Ankmy2 A G 12: 36,245,107 (GRCm39) E379G probably benign Het
Cand1 A G 10: 119,048,343 (GRCm39) probably null Het
Ccdc171 A G 4: 83,476,193 (GRCm39) T203A possibly damaging Het
Cpeb4 A G 11: 31,822,327 (GRCm39) T14A probably damaging Het
Cplane1 T G 15: 8,211,736 (GRCm39) F359V probably damaging Het
Crtap A T 9: 114,210,747 (GRCm39) C276S probably damaging Het
Csf2rb2 T C 15: 78,168,774 (GRCm39) I794V probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T A 5: 122,007,736 (GRCm39) M642L probably benign Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Dytn A G 1: 63,717,948 (GRCm39) L29P probably damaging Het
E2f3 G A 13: 30,169,306 (GRCm39) R116C probably benign Het
Edc3 T C 9: 57,647,197 (GRCm39) V282A probably benign Het
Epha1 A G 6: 42,339,602 (GRCm39) V630A probably damaging Het
Erc1 A G 6: 119,801,564 (GRCm39) I151T probably benign Het
Fam83h C T 15: 75,875,699 (GRCm39) R546H probably damaging Het
Fbxl14 A T 6: 119,457,742 (GRCm39) K308* probably null Het
Fbxw24 A T 9: 109,437,516 (GRCm39) probably null Het
Gldn T A 9: 54,245,976 (GRCm39) M509K probably benign Het
Gpr139 T C 7: 118,743,866 (GRCm39) I240V probably benign Het
Herc1 G T 9: 66,347,116 (GRCm39) M1990I possibly damaging Het
Hmgcr A G 13: 96,793,231 (GRCm39) I467T probably benign Het
Isl2 T C 9: 55,449,685 (GRCm39) F85L probably benign Het
Lat T C 7: 125,963,612 (GRCm39) N197D probably damaging Het
Marchf1 T C 8: 66,921,169 (GRCm39) V282A probably benign Het
Meiosin T A 7: 18,835,044 (GRCm39) D393V unknown Het
Mrpl9 A G 3: 94,351,075 (GRCm39) H85R possibly damaging Het
Mterf2 G T 10: 84,956,381 (GRCm39) A81E probably damaging Het
Mtr A G 13: 12,264,782 (GRCm39) C107R probably benign Het
Nlrp4c T A 7: 6,075,635 (GRCm39) V642E probably damaging Het
Or5b12b A G 19: 12,861,871 (GRCm39) I209V probably benign Het
Or6c212 T A 10: 129,559,018 (GRCm39) I132F probably benign Het
Pdik1l A G 4: 134,006,804 (GRCm39) S112P unknown Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Rest T A 5: 77,416,119 (GRCm39) L111Q probably damaging Het
Slc28a2b A C 2: 122,352,110 (GRCm39) probably null Het
Spg7 A C 8: 123,800,617 (GRCm39) D169A possibly damaging Het
Syt3 T C 7: 44,042,083 (GRCm39) V314A possibly damaging Het
Tlk1 A T 2: 70,617,016 (GRCm39) probably null Het
Tmem147 T G 7: 30,427,716 (GRCm39) probably null Het
Trip12 A T 1: 84,755,170 (GRCm39) D401E probably damaging Het
Ulbp1 A G 10: 7,395,685 (GRCm39) S291P unknown Het
Usp19 A G 9: 108,379,112 (GRCm39) D1286G possibly damaging Het
Usp49 T C 17: 47,989,873 (GRCm39) F553L probably damaging Het
Zfp352 A G 4: 90,113,512 (GRCm39) T551A possibly damaging 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
R9289:Tbc1d20 UTSW 2 152,153,262 (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'- ACTTTTCTCTGGGAAGCACTG -3'
(R):5'- AGTCAGTGCAAGTGGTCAGG -3'

Sequencing Primer
(F):5'- TCTGGGAAGCACTGCTGGC -3'
(R):5'- GTCAGGTCCAACACTGAGCTTAG -3'
Posted On 2019-11-12