Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Tbc1d20'

369703

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d20

Ensembl Gene

ENSMUSG00000027465

Gene Name

TBC1 domain family, member 20

Synonyms

bs, 1110028I04Rik, 2810442O16Rik

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

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

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152135748-152155916 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 152153909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000028964] [ENSMUST00000109847] [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

probably benign
Transcript: ENSMUST00000028964

SMART Domains

Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,483,026 (GRCm39)	N327K	probably damaging	Het
Ank2	T	C	3: 126,730,410 (GRCm39)	T675A	probably benign	Het
Arap3	T	C	18: 38,106,296 (GRCm39)	T1516A	probably benign	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
C7	A	G	15: 5,088,887 (GRCm39)	V18A	probably benign	Het
Caap1	A	G	4: 94,389,497 (GRCm39)	V279A	probably benign	Het
Cacnb2	A	G	2: 14,879,591 (GRCm39)	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,713,458 (GRCm39)	S1166P	probably damaging	Het
Chgb	A	T	2: 132,635,219 (GRCm39)	H387L	probably benign	Het
Chp2	G	A	7: 121,820,123 (GRCm39)	R91Q	probably damaging	Het
Chuk	C	A	19: 44,065,686 (GRCm39)	G703*	probably null	Het
Clmn	T	C	12: 104,751,825 (GRCm39)	D210G	probably damaging	Het
Cyp4f18	A	G	8: 72,749,839 (GRCm39)	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,676,483 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,028,256 (GRCm39)	V411D	unknown	Het
Dkk2	C	T	3: 131,879,546 (GRCm39)	A75V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnase2a	T	C	8: 85,636,506 (GRCm39)	V187A	probably benign	Het
Dusp19	A	G	2: 80,461,289 (GRCm39)	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,477 (GRCm39)	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,660 (GRCm39)	M119V	possibly damaging	Het
Ice2	C	T	9: 69,314,400 (GRCm39)	R50C	probably damaging	Het
Ifi208	A	T	1: 173,510,403 (GRCm39)	E186V	probably damaging	Het
Ift122	A	G	6: 115,858,517 (GRCm39)	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223 (GRCm39)	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,365,582 (GRCm39)	C209S	probably benign	Het
Kmt2a	G	A	9: 44,732,553 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 102,980,739 (GRCm39)	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592 (GRCm39)	T247N	probably damaging	Het
Mctp2	T	G	7: 71,909,097 (GRCm39)	Q72P	possibly damaging	Het
Miga1	T	C	3: 151,996,443 (GRCm39)	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,291,641 (GRCm39)	N19K	probably benign	Het
Mylk	G	A	16: 34,715,295 (GRCm39)	R541Q	probably damaging	Het
Nav3	T	C	10: 109,659,413 (GRCm39)	T735A	probably benign	Het
Nlgn1	T	A	3: 25,490,194 (GRCm39)	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,150,233 (GRCm39)	E613D	probably benign	Het
Nuf2	A	G	1: 169,338,037 (GRCm39)	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,240,102 (GRCm39)	V28A	probably benign	Het
Odf2	A	C	2: 29,792,252 (GRCm39)	E155D	possibly damaging	Het
Odr4	A	G	1: 150,250,597 (GRCm39)	C294R	probably damaging	Het
Or2ag13	G	A	7: 106,473,444 (GRCm39)	P3S	probably benign	Het
Or8s16	T	C	15: 98,210,561 (GRCm39)	N290S	probably damaging	Het
Otud7a	T	C	7: 63,379,658 (GRCm39)		probably null	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,828,247 (GRCm39)	V232I	probably damaging	Het
Plcb3	A	G	19: 6,940,352 (GRCm39)	I439T	possibly damaging	Het
Rag1	A	G	2: 101,473,861 (GRCm39)	V427A	probably damaging	Het
Ranbp10	A	T	8: 106,552,757 (GRCm39)	C128*	probably null	Het
Rbm8a2	A	G	1: 175,806,024 (GRCm39)	V151A	probably damaging	Het
S100pbp	A	G	4: 129,044,726 (GRCm39)		probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Sgo2b	T	C	8: 64,384,448 (GRCm39)	I183V	probably benign	Het
Slc25a25	A	T	2: 32,310,422 (GRCm39)	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,950,218 (GRCm39)	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,758,009 (GRCm39)	I183F	probably benign	Het
Srrm4	T	A	5: 116,613,249 (GRCm39)	K141N	unknown	Het
Tdpoz6	C	T	3: 93,599,593 (GRCm39)	V259M	probably benign	Het
Tep1	A	G	14: 51,078,759 (GRCm39)	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,779,933 (GRCm39)	M494T	probably benign	Het
Tox	A	G	4: 6,823,033 (GRCm39)	S95P	probably benign	Het
Tpr	G	A	1: 150,274,359 (GRCm39)	V163I	probably benign	Het
Trpm7	A	G	2: 126,700,412 (GRCm39)	S2P	probably damaging	Het
Ttn	A	G	2: 76,546,429 (GRCm39)	M32328T	probably damaging	Het
Vps39	A	T	2: 120,169,040 (GRCm39)	N289K	probably benign	Het
Xdh	C	T	17: 74,213,210 (GRCm39)	A847T	probably damaging	Het
Xndc1	G	A	7: 101,722,523 (GRCm39)	G63R	probably null	Het
Ythdc2	A	G	18: 45,018,307 (GRCm39)	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,677,864 (GRCm39)	K949N	probably damaging	Het
Zp3r	A	T	1: 130,526,649 (GRCm39)	Y185N	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
R4352:Tbc1d20	UTSW	2	152,150,114 (GRCm39)	intron	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'- GCCTGAGGCTCGAACAAAAG -3'
(R):5'- TTAGGCAGTGACTTGGGTAAC -3'

Sequencing Primer
(F):5'- GCTCGAACAAAAGATGTCCTG -3'
(R):5'- CCACTTTTCAACAGGAGAGGTGC -3'

Posted On

2016-02-04