Incidental Mutation 'R7346:Tbc1d20'
ID 570184
Institutional Source Beutler Lab
Gene Symbol Tbc1d20
Ensembl Gene ENSMUSG00000027465
Gene Name TBC1 domain family, member 20
Synonyms bs, 1110028I04Rik, 2810442O16Rik
MMRRC Submission 045373-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R7346 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152135748-152155916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152146881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000028963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000144252] [ENSMUST00000147591]
AlphaFold Q9D9I4
Predicted Effect probably benign
Transcript: ENSMUST00000028963
AA Change: D90G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: D90G

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
AA Change: D28G

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465
AA Change: D28G

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 8 80 5.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147591
AA Change: D39G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465
AA Change: D39G

DomainStartEndE-ValueType
Pfam:RabGAP-TBC 11 155 2e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,914,587 (GRCm39) P52S unknown Het
Adarb2 A G 13: 8,620,420 (GRCm39) E302G probably damaging Het
Adgrf5 T A 17: 43,762,070 (GRCm39) L1255H probably damaging Het
Adra1a T A 14: 66,875,733 (GRCm39) I236N probably benign Het
As3mt T C 19: 46,708,891 (GRCm39) F295S probably damaging Het
Bmp5 G A 9: 75,780,642 (GRCm39) R313Q probably damaging Het
Ccnj T A 19: 40,833,394 (GRCm39) S191T probably benign Het
Clk2 T A 3: 89,080,852 (GRCm39) probably null Het
Cpz T C 5: 35,675,000 (GRCm39) E83G probably damaging Het
Cts3 A G 13: 61,715,434 (GRCm39) I133T probably benign Het
Dars2 C T 1: 160,874,342 (GRCm39) probably null Het
Dsel A T 1: 111,788,798 (GRCm39) V579D probably damaging Het
Dync1h1 C A 12: 110,602,076 (GRCm39) A2038E probably damaging Het
Eaf1 A G 14: 31,216,777 (GRCm39) probably benign Het
Fsip2 A C 2: 82,828,524 (GRCm39) I6774L probably benign Het
Glis2 T C 16: 4,431,432 (GRCm39) F320L possibly damaging Het
Hcar1 A G 5: 124,017,693 (GRCm39) probably benign Het
Hectd1 A T 12: 51,797,104 (GRCm39) H2211Q probably benign Het
Hmcn1 A G 1: 150,559,496 (GRCm39) I2385T probably damaging Het
Ifi44 T A 3: 151,438,094 (GRCm39) M398L probably benign Het
Il16 C T 7: 83,293,249 (GRCm39) E1273K probably damaging Het
Inpp5j G A 11: 3,451,065 (GRCm39) T528I probably damaging Het
Kbtbd6 C T 14: 79,690,627 (GRCm39) P441S probably damaging Het
Kcnt1 C T 2: 25,753,855 (GRCm39) probably benign Het
Kif26b T C 1: 178,358,306 (GRCm39) L139P probably damaging Het
Klb C T 5: 65,505,974 (GRCm39) Q74* probably null Het
L3mbtl1 G A 2: 162,808,926 (GRCm39) V600I probably benign Het
Lcp1 C T 14: 75,447,946 (GRCm39) A317V possibly damaging Het
Lipc C T 9: 70,720,029 (GRCm39) G326D probably damaging Het
Mbnl2 T A 14: 120,616,694 (GRCm39) F103I probably benign Het
Mdm1 G T 10: 118,000,193 (GRCm39) E609* probably null Het
Med16 A G 10: 79,744,650 (GRCm39) probably null Het
Mga T C 2: 119,766,008 (GRCm39) V1424A possibly damaging Het
Mocs2 G T 13: 114,964,710 (GRCm39) probably null Het
Morc1 C T 16: 48,451,263 (GRCm39) probably null Het
Mpc2 T A 1: 165,307,080 (GRCm39) W94R probably damaging Het
Mrm3 G A 11: 76,141,002 (GRCm39) V337I possibly damaging Het
N4bp3 T C 11: 51,536,433 (GRCm39) H133R probably benign Het
Ncam2 G T 16: 81,420,256 (GRCm39) G810V probably damaging Het
Nipbl T C 15: 8,373,090 (GRCm39) E1052G possibly damaging Het
Nlrp12 C T 7: 3,297,887 (GRCm39) V95M probably damaging Het
Nrip1 T C 16: 76,090,244 (GRCm39) N438D possibly damaging Het
Nsun4 C A 4: 115,909,035 (GRCm39) M508I probably benign Het
Pla2g2c T C 4: 138,461,650 (GRCm39) S40P probably damaging Het
Plec A G 15: 76,082,178 (GRCm39) probably null Het
Ppfia2 G T 10: 106,693,356 (GRCm39) M620I possibly damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prkd1 A T 12: 50,695,617 (GRCm39) I47N possibly damaging Het
Prr14l T C 5: 32,988,028 (GRCm39) D489G probably benign Het
Ptch2 T A 4: 116,971,849 (GRCm39) Y1124N probably benign Het
Ptpra T G 2: 130,395,320 (GRCm39) Y808D probably damaging Het
Rint1 T A 5: 24,020,651 (GRCm39) F558Y possibly damaging Het
Rnf215 T A 11: 4,089,792 (GRCm39) C268* probably null Het
Slc25a13 T C 6: 6,181,100 (GRCm39) E28G possibly damaging Het
Slc38a8 G T 8: 120,226,554 (GRCm39) Y78* probably null Het
Slc4a7 T C 14: 14,775,000 (GRCm38) M810T probably damaging Het
Slitrk1 A G 14: 109,150,591 (GRCm39) V40A possibly damaging Het
Sobp A T 10: 42,898,831 (GRCm39) S251R probably damaging Het
Spata31d1a G A 13: 59,851,015 (GRCm39) S371L probably benign Het
Tada2b T C 5: 36,634,180 (GRCm39) T133A possibly damaging Het
Tek T A 4: 94,715,533 (GRCm39) I408K probably benign Het
Tgfb2 A G 1: 186,382,077 (GRCm39) F150S probably benign Het
Tmem63b T C 17: 45,977,517 (GRCm39) T370A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tspan17 C G 13: 54,940,434 (GRCm39) L34V probably benign Het
Vmn1r238 A T 18: 3,123,151 (GRCm39) Y88N probably damaging Het
Vmn1r85 A G 7: 12,818,964 (GRCm39) I60T probably damaging Het
Vmn2r96 T C 17: 18,803,029 (GRCm39) M313T probably benign Het
Zp3r G A 1: 130,511,217 (GRCm39) S387F 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
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'- TCATTCCAAGATGTAGTTCCTGTTG -3'
(R):5'- GCCACAAGGAGTCAACAGTG -3'

Sequencing Primer
(F):5'- CAAGATGTAGTTCCTGTTGTTCTTTG -3'
(R):5'- CAGGGATCTGCATGTATCTCTG -3'
Posted On 2019-09-13