Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Tbl3'

53046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

24697949-24707660 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24701905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000126319]

AlphaFold

Q8C4J7

Predicted Effect

probably benign
Transcript: ENSMUST00000019464

SMART Domains

Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320

Domain	Start	End	E-Value	Type
PX	6	122	1.36e-2	SMART
SH3	160	218	1.55e0	SMART
SH3	234	289	1.8e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124864

Predicted Effect

probably benign
Transcript: ENSMUST00000126319

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	54	94	3.08e0	SMART
WD40	97	137	2.38e-6	SMART
WD40	140	181	3.85e-1	SMART
WD40	184	223	6.94e-8	SMART
WD40	237	275	7.36e1	SMART
WD40	278	320	3.07e1	SMART
WD40	323	363	1.78e0	SMART
WD40	365	404	1.17e-5	SMART
WD40	410	450	8.16e-5	SMART
WD40	468	507	5.18e-7	SMART
WD40	510	549	8.1e-9	SMART
WD40	552	591	8.55e-8	SMART
WD40	594	633	2.93e-6	SMART
low complexity region	637	650	N/A	INTRINSIC
Pfam:Utp13	654	788	3.7e-43	PFAM
low complexity region	792	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126342

Predicted Effect

probably benign
Transcript: ENSMUST00000130633

SMART Domains

Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	2	38	8.75e-5	SMART
WD40	41	80	8.1e-9	SMART
WD40	90	129	9.52e-6	SMART
WD40	132	171	2.93e-6	SMART
low complexity region	175	188	N/A	INTRINSIC
Pfam:Utp13	192	299	1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152527

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Tbl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Tbl3	APN	17	24705252	missense	probably damaging	1.00
IGL01601:Tbl3	APN	17	24702317	missense	probably damaging	1.00
IGL01610:Tbl3	APN	17	24704044	missense	probably damaging	1.00
IGL02214:Tbl3	APN	17	24704132	unclassified	probably benign
IGL03027:Tbl3	APN	17	24701193	critical splice acceptor site	probably null
FR4449:Tbl3	UTSW	17	24702544	unclassified	probably benign
R0230:Tbl3	UTSW	17	24701333	missense	probably damaging	1.00
R0288:Tbl3	UTSW	17	24701807	missense	probably damaging	1.00
R0305:Tbl3	UTSW	17	24705461	missense	probably damaging	1.00
R1104:Tbl3	UTSW	17	24701606	missense	probably benign	0.02
R1920:Tbl3	UTSW	17	24704503	missense	probably benign	0.04
R2513:Tbl3	UTSW	17	24704550	critical splice acceptor site	probably null
R2570:Tbl3	UTSW	17	24703316	missense	possibly damaging	0.47
R2851:Tbl3	UTSW	17	24702583	missense	probably damaging	1.00
R3905:Tbl3	UTSW	17	24702032	missense	probably damaging	1.00
R3944:Tbl3	UTSW	17	24700708	missense	possibly damaging	0.94
R4019:Tbl3	UTSW	17	24704721	missense	probably damaging	0.98
R4745:Tbl3	UTSW	17	24705330	unclassified	probably benign
R5288:Tbl3	UTSW	17	24705970	missense	possibly damaging	0.88
R5605:Tbl3	UTSW	17	24700759	missense	probably benign	0.06
R5791:Tbl3	UTSW	17	24704434	missense	probably damaging	0.99
R6236:Tbl3	UTSW	17	24700743	missense	probably benign	0.12
R6302:Tbl3	UTSW	17	24704671	missense	probably benign	0.05
R6938:Tbl3	UTSW	17	24705213	missense	possibly damaging	0.61
R7173:Tbl3	UTSW	17	24705259	missense	probably benign
R7176:Tbl3	UTSW	17	24700758	missense	probably benign	0.01
R7382:Tbl3	UTSW	17	24705291	missense	probably benign	0.21
R7555:Tbl3	UTSW	17	24701976	critical splice donor site	probably null
R7732:Tbl3	UTSW	17	24704162	missense	probably benign	0.00
R7780:Tbl3	UTSW	17	24702231	missense	probably damaging	1.00
R7899:Tbl3	UTSW	17	24702484	missense	probably damaging	1.00
R8108:Tbl3	UTSW	17	24700916	missense	probably benign
RF005:Tbl3	UTSW	17	24702541	unclassified	probably benign
X0022:Tbl3	UTSW	17	24705573	nonsense	probably null
X0028:Tbl3	UTSW	17	24702321	missense	probably damaging	0.99

Posted On

2013-06-21