Mutagenetix > Incidental Mutation

Incidental Mutation 'R7780:Tbl3'

599200

Institutional Source

Beutler Lab

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

9430070M15Rik

MMRRC Submission

045836-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7780 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24919627-24926627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24921205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 529 (F529L)

Ref Sequence

ENSEMBL: ENSMUSP00000120911 (fasta)

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

probably damaging
Transcript: ENSMUST00000126319
AA Change: F529L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: F529L

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

SMART Domains

Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
AA Change: F59L

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

Meta Mutation Damage Score

0.7665

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	C	T	8: 25,294,432 (GRCm39)	R389K	possibly damaging	Het
Ahnak2	C	T	12: 112,746,716 (GRCm39)	V1205M		Het
Ccr3	A	G	9: 123,828,989 (GRCm39)	Y108C	probably benign	Het
Cers5	T	G	15: 99,637,589 (GRCm39)	H220P	probably damaging	Het
Cfap61	A	T	2: 145,995,692 (GRCm39)	N1086Y	possibly damaging	Het
Cip2a	T	A	16: 48,822,023 (GRCm39)	L217*	probably null	Het
Clstn3	T	C	6: 124,439,161 (GRCm39)	E32G	probably damaging	Het
Cox20	T	C	1: 178,149,566 (GRCm39)	C72R	probably benign	Het
Csf1	A	T	3: 107,657,709 (GRCm39)	N154K	probably damaging	Het
Cyp2j7	T	A	4: 96,118,256 (GRCm39)	K112N	probably benign	Het
Drosha	A	G	15: 12,848,172 (GRCm39)	D488G	probably benign	Het
Edem1	A	G	6: 108,818,589 (GRCm39)	K199R	probably benign	Het
Esyt2	T	C	12: 116,305,718 (GRCm39)	I316T	probably benign	Het
Evpl	C	T	11: 116,125,000 (GRCm39)	R154H	not run	Het
Fbn1	A	G	2: 125,143,678 (GRCm39)	L2817P	probably benign	Het
Fbxo42	T	A	4: 140,921,131 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,162,358 (GRCm39)	D283G	probably damaging	Het
Fdxr	A	T	11: 115,167,656 (GRCm39)	S20T	probably benign	Het
Fkbp10	T	C	11: 100,312,048 (GRCm39)	Y203H	probably damaging	Het
Galntl6	C	T	8: 58,880,733 (GRCm39)		probably null	Het
Gask1b	G	A	3: 79,848,711 (GRCm39)	G486S	probably damaging	Het
Gm26657	C	A	4: 56,741,056 (GRCm39)	Y80*	probably null	Het
Gm973	T	A	1: 59,597,289 (GRCm39)	W440R	probably damaging	Het
Helz	T	A	11: 107,528,689 (GRCm39)	F903Y	probably damaging	Het
Iqcf4	T	A	9: 106,445,860 (GRCm39)	I96F	possibly damaging	Het
Kcnq5	T	A	1: 22,031,555 (GRCm39)	Q84L	probably benign	Het
Krit1	G	A	5: 3,862,772 (GRCm39)	G254S	probably damaging	Het
Krtap6-2	A	T	16: 89,216,510 (GRCm39)	Y152*	probably null	Het
Loricrin	A	T	3: 91,988,460 (GRCm39)	Y275*	probably null	Het
Map4	T	C	9: 109,863,720 (GRCm39)	I315T	probably benign	Het
Mcpt1	T	A	14: 56,256,609 (GRCm39)		probably null	Het
Mdh1b	C	A	1: 63,759,133 (GRCm39)	S153I	possibly damaging	Het
Mfsd12	C	A	10: 81,193,718 (GRCm39)	A96E	probably benign	Het
Mki67	T	C	7: 135,315,697 (GRCm39)	E55G	probably benign	Het
Mterf4	T	C	1: 93,232,689 (GRCm39)	E54G	probably benign	Het
Mucl3	A	G	17: 35,947,874 (GRCm39)	S452P	possibly damaging	Het
Nuggc	T	A	14: 65,882,490 (GRCm39)	I745N	probably damaging	Het
Or6k6	T	C	1: 173,945,115 (GRCm39)	I156V	probably benign	Het
Or7g18	A	G	9: 18,786,910 (GRCm39)	T93A	possibly damaging	Het
Parg	A	T	14: 31,930,758 (GRCm39)	N126I	possibly damaging	Het
Pcdh9	T	C	14: 94,123,987 (GRCm39)	I728V	possibly damaging	Het
Pcdha1	C	G	18: 37,065,511 (GRCm39)	P725R	probably benign	Het
Pcdha11	T	A	18: 37,145,849 (GRCm39)	L647M	probably damaging	Het
Phb2	T	C	6: 124,692,995 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,483,610 (GRCm39)		probably null	Het
Pmch	T	A	10: 87,927,113 (GRCm39)	F39I	probably benign	Het
Psmd7	A	T	8: 108,307,920 (GRCm39)	S188T	possibly damaging	Het
Pycr2	T	A	1: 180,733,913 (GRCm39)	D168E	probably damaging	Het
Rab43	A	G	6: 87,771,692 (GRCm39)	Y96H	probably damaging	Het
Ralgapa2	C	T	2: 146,184,334 (GRCm39)	G1511S	probably benign	Het
Rb1cc1	T	A	1: 6,319,138 (GRCm39)	C852*	probably null	Het
Rexo2	T	C	9: 48,380,145 (GRCm39)	N229S	probably damaging	Het
Sema4f	A	G	6: 82,890,941 (GRCm39)	V622A	possibly damaging	Het
Serpina10	T	C	12: 103,594,806 (GRCm39)	S138G	probably benign	Het
Sptbn4	T	A	7: 27,061,059 (GRCm39)	T2415S	possibly damaging	Het
Tbc1d22b	A	G	17: 29,792,040 (GRCm39)	N257D	probably benign	Het
Them6	A	T	15: 74,593,427 (GRCm39)	N95I	probably benign	Het
Thrb	T	C	14: 18,008,608 (GRCm38)	S156P	possibly damaging	Het
Tmem186	G	A	16: 8,453,731 (GRCm39)	R177C	probably benign	Het
Ttn	T	A	2: 76,660,937 (GRCm39)		probably null	Het
Unc13a	T	A	8: 72,110,979 (GRCm39)	I411F	probably benign	Het
Uqcc1	T	C	2: 155,752,073 (GRCm39)		probably null	Het
Vmn1r56	T	C	7: 5,199,516 (GRCm39)	T34A	possibly damaging	Het
Vps39	A	T	2: 120,155,680 (GRCm39)	Y542*	probably null	Het
Wdr64	T	C	1: 175,556,542 (GRCm39)	L263P	probably damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Wfdc16	A	G	2: 164,477,785 (GRCm39)	M88T	probably benign	Het
Wnk4	A	G	11: 101,160,403 (GRCm39)	D679G	probably damaging	Het
Ykt6	T	C	11: 5,912,751 (GRCm39)	I151T	probably benign	Het
Zbtb46	A	G	2: 181,033,225 (GRCm39)	C479R	probably damaging	Het
Zc3h7a	A	G	16: 10,967,115 (GRCm39)	I559T	probably benign	Het
Zfhx3	A	G	8: 109,678,283 (GRCm39)	N3111S	possibly damaging	Het
Zfp619	T	C	7: 39,184,432 (GRCm39)	V154A	possibly damaging	Het
Zfp629	A	T	7: 127,211,601 (GRCm39)	D69E	probably benign	Het
Zfp882	T	A	8: 72,668,073 (GRCm39)	I300N	possibly damaging	Het
Zfp934	T	C	13: 62,666,358 (GRCm39)	H106R	possibly damaging	Het
Zfta	T	C	19: 7,399,737 (GRCm39)	S495P	probably damaging	Het
Zfyve9	G	A	4: 108,576,298 (GRCm39)	T261I	possibly damaging	Het

Other mutations in Tbl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Tbl3	APN	17	24,924,226 (GRCm39)	missense	probably damaging	1.00
IGL01092:Tbl3	APN	17	24,920,879 (GRCm39)	splice site	probably benign
IGL01601:Tbl3	APN	17	24,921,291 (GRCm39)	missense	probably damaging	1.00
IGL01610:Tbl3	APN	17	24,923,018 (GRCm39)	missense	probably damaging	1.00
IGL02214:Tbl3	APN	17	24,923,106 (GRCm39)	unclassified	probably benign
IGL03027:Tbl3	APN	17	24,920,167 (GRCm39)	critical splice acceptor site	probably null
FR4449:Tbl3	UTSW	17	24,921,518 (GRCm39)	unclassified	probably benign
R0230:Tbl3	UTSW	17	24,920,307 (GRCm39)	missense	probably damaging	1.00
R0288:Tbl3	UTSW	17	24,920,781 (GRCm39)	missense	probably damaging	1.00
R0305:Tbl3	UTSW	17	24,924,435 (GRCm39)	missense	probably damaging	1.00
R1104:Tbl3	UTSW	17	24,920,580 (GRCm39)	missense	probably benign	0.02
R1920:Tbl3	UTSW	17	24,923,477 (GRCm39)	missense	probably benign	0.04
R2513:Tbl3	UTSW	17	24,923,524 (GRCm39)	critical splice acceptor site	probably null
R2570:Tbl3	UTSW	17	24,922,290 (GRCm39)	missense	possibly damaging	0.47
R2851:Tbl3	UTSW	17	24,921,557 (GRCm39)	missense	probably damaging	1.00
R3905:Tbl3	UTSW	17	24,921,006 (GRCm39)	missense	probably damaging	1.00
R3944:Tbl3	UTSW	17	24,919,682 (GRCm39)	missense	possibly damaging	0.94
R4019:Tbl3	UTSW	17	24,923,695 (GRCm39)	missense	probably damaging	0.98
R4745:Tbl3	UTSW	17	24,924,304 (GRCm39)	unclassified	probably benign
R5288:Tbl3	UTSW	17	24,924,944 (GRCm39)	missense	possibly damaging	0.88
R5605:Tbl3	UTSW	17	24,919,733 (GRCm39)	missense	probably benign	0.06
R5791:Tbl3	UTSW	17	24,923,408 (GRCm39)	missense	probably damaging	0.99
R6236:Tbl3	UTSW	17	24,919,717 (GRCm39)	missense	probably benign	0.12
R6302:Tbl3	UTSW	17	24,923,645 (GRCm39)	missense	probably benign	0.05
R6938:Tbl3	UTSW	17	24,924,187 (GRCm39)	missense	possibly damaging	0.61
R7173:Tbl3	UTSW	17	24,924,233 (GRCm39)	missense	probably benign
R7176:Tbl3	UTSW	17	24,919,732 (GRCm39)	missense	probably benign	0.01
R7382:Tbl3	UTSW	17	24,924,265 (GRCm39)	missense	probably benign	0.21
R7555:Tbl3	UTSW	17	24,920,950 (GRCm39)	critical splice donor site	probably null
R7732:Tbl3	UTSW	17	24,923,136 (GRCm39)	missense	probably benign	0.00
R7899:Tbl3	UTSW	17	24,921,458 (GRCm39)	missense	probably damaging	1.00
R8108:Tbl3	UTSW	17	24,919,890 (GRCm39)	missense	probably benign
R9634:Tbl3	UTSW	17	24,926,531 (GRCm39)	missense	probably benign	0.00
RF005:Tbl3	UTSW	17	24,921,515 (GRCm39)	unclassified	probably benign
X0022:Tbl3	UTSW	17	24,924,547 (GRCm39)	nonsense	probably null
X0028:Tbl3	UTSW	17	24,921,295 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAATGTCTGCAGGGAGAG -3'
(R):5'- TGCCACGACAAAGTAGCCAG -3'

Sequencing Primer
(F):5'- TGTCTGCAGGGAGAGACAGAG -3'
(R):5'- CATACATGGCCTCTGGGGTG -3'

Posted On

2019-11-26