Mutagenetix > Incidental Mutation

Incidental Mutation 'R4352:Tbc1d20'

327322

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d20

Ensembl Gene

ENSMUSG00000027465

Gene Name

TBC1 domain family, member 20

Synonyms

bs, 1110028I04Rik, 2810442O16Rik

MMRRC Submission

041668-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R4352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152135748-152155916 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 152150114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000144252] [ENSMUST00000147591]

AlphaFold

Q9D9I4

Predicted Effect

probably benign
Transcript: ENSMUST00000028963

SMART Domains

Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465

Domain	Start	End	E-Value	Type
TBC	56	268	6.19e-5	SMART
low complexity region	304	323	N/A	INTRINSIC
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141373

Predicted Effect

probably benign
Transcript: ENSMUST00000144252

SMART Domains

Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465

Domain	Start	End	E-Value	Type
Pfam:RabGAP-TBC	8	80	5.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147591

SMART Domains

Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465

Domain	Start	End	E-Value	Type
Pfam:RabGAP-TBC	11	155	2e-24	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (79/82)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ankrd54	A	T	15: 78,939,662 (GRCm39)	F176I	probably benign	Het
Ano3	T	A	2: 110,576,239 (GRCm39)	E94V	possibly damaging	Het
Arid1b	A	T	17: 5,147,859 (GRCm39)	Q587L	possibly damaging	Het
Atg2a	G	A	19: 6,307,487 (GRCm39)	V1474M	probably benign	Het
Bcl2a1d	A	G	9: 88,613,552 (GRCm39)	V74A	probably damaging	Het
Bmper	A	G	9: 23,395,248 (GRCm39)	I660V	probably benign	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cds2	T	A	2: 132,105,365 (GRCm39)	M1K	probably null	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Ddx47	C	T	6: 134,995,018 (GRCm39)	T161I	probably benign	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Efcab3	T	A	11: 104,630,140 (GRCm39)	L957Q	probably null	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Eml1	A	T	12: 108,501,096 (GRCm39)		probably benign	Het
Espnl	A	T	1: 91,262,443 (GRCm39)	D296V	probably damaging	Het
Fam161a	T	G	11: 22,970,798 (GRCm39)	S109R	possibly damaging	Het
Fat3	T	G	9: 16,158,074 (GRCm39)	T1179P	possibly damaging	Het
Gfra1	A	T	19: 58,255,456 (GRCm39)	N330K	probably benign	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gm20775	A	T	Y: 10,641,648 (GRCm39)		noncoding transcript	Het
Gm5885	T	A	6: 133,508,152 (GRCm39)		noncoding transcript	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
H2-Q1	A	G	17: 35,539,919 (GRCm39)	N63D	possibly damaging	Het
Itgb2	A	T	10: 77,392,001 (GRCm39)	N358I	probably benign	Het
Jmjd1c	A	G	10: 67,080,588 (GRCm39)	T2247A	probably damaging	Het
Kcnma1	T	A	14: 23,361,720 (GRCm39)	K1036I	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrch1	G	T	14: 75,056,018 (GRCm39)	S278R	probably damaging	Het
Lrp2	C	A	2: 69,262,526 (GRCm39)		probably null	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Mpzl1	G	A	1: 165,433,376 (GRCm39)	Q36*	probably null	Het
Msantd5	A	G	11: 51,125,646 (GRCm39)	N190D	possibly damaging	Het
Npr2	T	C	4: 43,646,592 (GRCm39)	S647P	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Otogl	A	T	10: 107,705,396 (GRCm39)	C644S	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Paqr3	T	C	5: 97,247,455 (GRCm39)	T218A	probably benign	Het
Pcdh7	C	T	5: 57,879,361 (GRCm39)	S972L	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ralb	A	G	1: 119,411,282 (GRCm39)	M19T	probably benign	Het
Rcan1	A	G	16: 92,190,384 (GRCm39)	I185T	probably benign	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Rock1	T	A	18: 10,079,237 (GRCm39)	Q1077L	probably damaging	Het
Sesn3	C	T	9: 14,231,669 (GRCm39)	A200V	probably damaging	Het
Shh	T	C	5: 28,663,187 (GRCm39)	E327G	probably benign	Het
Shmt2	G	A	10: 127,354,686 (GRCm39)	A333V	probably damaging	Het
Slc15a2	T	A	16: 36,592,390 (GRCm39)	I256F	probably benign	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Taf10	A	G	7: 105,392,614 (GRCm39)		probably benign	Het
Tas2r139	T	A	6: 42,118,689 (GRCm39)	W274R	probably damaging	Het
Tbc1d5	A	G	17: 51,089,429 (GRCm39)	S584P	probably damaging	Het
Tcstv1a	T	C	13: 120,355,407 (GRCm39)	D75G	probably damaging	Het
Tex10	T	G	4: 48,452,039 (GRCm39)	T696P	possibly damaging	Het
Tgfbr1	T	C	4: 47,402,863 (GRCm39)	F206S	probably damaging	Het
Tmem241	A	T	18: 12,246,496 (GRCm39)	H51Q	probably benign	Het
Trim5	A	T	7: 103,926,015 (GRCm39)	V182D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Ugp2	C	T	11: 21,279,026 (GRCm39)	V387I	probably damaging	Het
Unc45b	G	A	11: 82,804,035 (GRCm39)	D71N	probably damaging	Het
Usp34	A	T	11: 23,270,727 (GRCm39)	Y37F	possibly damaging	Het
Zfp943	A	T	17: 22,212,104 (GRCm39)	I397F	probably damaging	Het

Other mutations in Tbc1d20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GAGCTAATCGATATCATCCTCCTC -3'
(R):5'- TGCATGAAGTCGTGGAGCTC -3'

Sequencing Primer
(F):5'- TCGTCCTGGATCGCAACC -3'
(R):5'- CTCACTTGGTCAATGATGGGCATC -3'

Posted On

2015-07-07