Incidental Mutation 'R5832:Tbc1d20'
ID 449344
Institutional Source Beutler Lab
Gene Symbol Tbc1d20
Ensembl Gene ENSMUSG00000027465
Gene Name TBC1 domain family, member 20
Synonyms bs, 1110028I04Rik, 2810442O16Rik
MMRRC Submission 044054-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R5832 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152135748-152155916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152153282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 271 (M271L)
Ref Sequence ENSEMBL: ENSMUSP00000028963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000028964] [ENSMUST00000109847] [ENSMUST00000144252] [ENSMUST00000147591]
AlphaFold Q9D9I4
Predicted Effect possibly damaging
Transcript: ENSMUST00000028963
AA Change: M271L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: M271L

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 noncoding transcript
Transcript: ENSMUST00000130165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141373
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adgrv1 G A 13: 81,251,421 (GRCm39) S6232F possibly damaging Het
Alox12 T C 11: 70,144,106 (GRCm39) E129G probably damaging Het
Anxa13 C A 15: 58,205,389 (GRCm39) noncoding transcript Het
Arfgef3 C T 10: 18,506,168 (GRCm39) G878D probably damaging Het
Asnsd1 T C 1: 53,386,634 (GRCm39) D331G probably damaging Het
Crisp1 A G 17: 40,612,208 (GRCm39) probably null Het
Eml5 T C 12: 98,842,447 (GRCm39) N217S probably benign Het
Fat1 A T 8: 45,470,460 (GRCm39) Y1463F possibly damaging Het
Fhod3 T C 18: 25,223,752 (GRCm39) W1033R probably damaging Het
Galr2 T A 11: 116,172,457 (GRCm39) L49Q probably damaging Het
Gstm5 T C 3: 107,804,853 (GRCm39) V115A probably benign Het
Gtpbp2 C T 17: 46,478,788 (GRCm39) T535I probably damaging Het
Hk1 T C 10: 62,128,144 (GRCm39) E326G probably benign Het
Igfn1 A G 1: 135,902,533 (GRCm39) V388A probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kitl C A 10: 99,915,882 (GRCm39) P137H probably damaging Het
Lamp3 A T 16: 19,520,070 (GRCm39) Y38N probably damaging Het
Lmo7 A T 14: 102,121,649 (GRCm39) N5I probably damaging Het
Mc3r T A 2: 172,091,350 (GRCm39) C191S probably benign Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mybpc3 A G 2: 90,949,520 (GRCm39) probably null Het
Nav2 A T 7: 49,197,817 (GRCm39) probably null Het
Patz1 C T 11: 3,256,277 (GRCm39) P521L probably benign Het
Pramel14 A G 4: 143,718,532 (GRCm39) S304P probably damaging Het
Prkcd T C 14: 30,327,778 (GRCm39) T103A probably damaging Het
Pttg1ip T C 10: 77,419,859 (GRCm39) probably null Het
Rcbtb2 C A 14: 73,404,262 (GRCm39) Q85K possibly damaging Het
Rdh16f1 T A 10: 127,624,618 (GRCm39) V152E probably damaging Het
Rsph4a A G 10: 33,785,498 (GRCm39) I470V probably benign Het
Sarnp T C 10: 128,684,181 (GRCm39) probably null Het
Slc39a6 C A 18: 24,734,669 (GRCm39) V7L possibly damaging Het
Slco1a4 A G 6: 141,765,270 (GRCm39) I324T probably benign Het
Spata31d1a A T 13: 59,849,380 (GRCm39) V916E probably damaging Het
Srgap1 T G 10: 121,676,819 (GRCm39) T392P probably damaging Het
Tbc1d22b T C 17: 29,789,621 (GRCm39) I161T possibly damaging Het
Tcof1 G T 18: 60,952,611 (GRCm39) N918K unknown Het
Tnr A G 1: 159,713,692 (GRCm39) T707A probably benign Het
Trim66 A G 7: 109,054,409 (GRCm39) F1267S probably damaging Het
Trpm6 A G 19: 18,764,183 (GRCm39) H263R possibly damaging Het
Tshz2 T A 2: 169,725,965 (GRCm39) V187D possibly damaging Het
Ube2f T G 1: 91,213,046 (GRCm39) V176G possibly damaging Het
Vmn2r109 C T 17: 20,761,318 (GRCm39) A680T probably benign Het
Vmn2r77 T A 7: 86,460,670 (GRCm39) C665* probably null Het
Zfp954 A G 7: 7,118,389 (GRCm39) V385A probably 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
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
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'- AGAGACAAGTGTCCAGTGTGTG -3'
(R):5'- GATTTCCAACTGCCCCACTG -3'

Sequencing Primer
(F):5'- AGAGACAAGTGTCCTGTGTG -3'
(R):5'- ACTGCAGCAGCCACAGC -3'
Posted On 2016-12-20