Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Tbl3'

595942

Institutional Source

Beutler Lab

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

9430070M15Rik

MMRRC Submission

045788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24919627-24926627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24923136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 368 (A368D)

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 benign
Transcript: ENSMUST00000126319
AA Change: A368D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: A368D

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,075,451 (GRCm39)	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,478,041 (GRCm39)	M69V		Het
Ap3m2	G	T	8: 23,287,105 (GRCm39)	D192E	probably benign	Het
Arel1	A	G	12: 84,974,663 (GRCm39)	V493A	probably benign	Het
Arhgap27	T	C	11: 103,230,869 (GRCm39)	H140R	probably benign	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Brd4	C	A	17: 32,440,386 (GRCm39)	A318S	unknown	Het
Cabp4	T	A	19: 4,185,994 (GRCm39)	T270S	probably benign	Het
Cd22	G	A	7: 30,569,482 (GRCm39)	R545C	probably damaging	Het
Cdc23	C	A	18: 34,769,755 (GRCm39)		probably null	Het
Chst4	G	A	8: 110,756,514 (GRCm39)	Q450*	probably null	Het
Ctsc	G	A	7: 87,946,367 (GRCm39)	R132Q	probably damaging	Het
Cyp2b19	A	G	7: 26,470,769 (GRCm39)	D470G	possibly damaging	Het
Dcc	C	T	18: 71,579,506 (GRCm39)	G689D	probably benign	Het
Disc1	G	T	8: 125,977,714 (GRCm39)	G779*	probably null	Het
Dock1	T	G	7: 134,346,699 (GRCm39)	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,365,220 (GRCm39)	V14A	probably benign	Het
Dynlt2a3	A	G	17: 15,187,947 (GRCm39)	V109A	probably benign	Het
Epha10	A	G	4: 124,809,092 (GRCm39)	D779G		Het
Eprs1	A	G	1: 185,105,136 (GRCm39)	H137R	probably benign	Het
Eps15l1	A	C	8: 73,134,820 (GRCm39)	L447R	probably damaging	Het
Esyt1	A	G	10: 128,357,694 (GRCm39)		probably null	Het
Fam221a	A	G	6: 49,349,563 (GRCm39)	K43E	probably benign	Het
Fanci	A	G	7: 79,062,400 (GRCm39)	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,903,601 (GRCm39)	W76R	probably damaging	Het
Fgd4	A	G	16: 16,302,459 (GRCm39)	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287 (GRCm39)	D365V	unknown	Het
Gabrd	C	T	4: 155,470,075 (GRCm39)	R378H	probably benign	Het
Greb1	A	G	12: 16,723,864 (GRCm39)	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436 (GRCm39)	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,474,692 (GRCm39)	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,220,415 (GRCm39)	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,852 (GRCm39)	V412A	probably damaging	Het
Igsf11	A	G	16: 38,829,160 (GRCm39)	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,603,358 (GRCm39)	M263I	probably benign	Het
Ms4a14	C	T	19: 11,279,047 (GRCm39)	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,089,618 (GRCm39)		probably null	Het
Nectin4	A	T	1: 171,214,246 (GRCm39)	E467V	probably benign	Het
Or8d1b	A	G	9: 38,887,560 (GRCm39)	E196G	probably damaging	Het
Otogl	G	A	10: 107,642,525 (GRCm39)	H1302Y	probably benign	Het
Pigg	A	G	5: 108,466,841 (GRCm39)	S241G	probably benign	Het
Pip4p1	C	T	14: 51,168,090 (GRCm39)	G48D	possibly damaging	Het
Pom121l12	T	A	11: 14,549,843 (GRCm39)	V183D	probably damaging	Het
Prickle2	T	A	6: 92,388,205 (GRCm39)	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,620,532 (GRCm39)	V488G	probably benign	Het
Ranbp10	A	G	8: 106,499,723 (GRCm39)	I502T	probably benign	Het
Raph1	T	A	1: 60,572,447 (GRCm39)	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 33,152,590 (GRCm39)	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,853,082 (GRCm39)	N158S	probably benign	Het
Serping1	A	T	2: 84,600,448 (GRCm39)	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,414,196 (GRCm39)	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,234,753 (GRCm39)	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,680,472 (GRCm39)	T129A	probably benign	Het
Slit1	T	A	19: 41,592,847 (GRCm39)	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,786,656 (GRCm39)	S130P	probably damaging	Het
Sulf1	A	G	1: 12,913,013 (GRCm39)	D749G	probably benign	Het
Taok3	A	G	5: 117,331,813 (GRCm39)	E10G	possibly damaging	Het
Tdh	T	A	14: 63,733,507 (GRCm39)	H127L	probably damaging	Het
Tmem205	C	A	9: 21,838,703 (GRCm39)		probably null	Het
Tmem30a	A	C	9: 79,687,826 (GRCm39)	F114L	possibly damaging	Het
Tmprss15	T	C	16: 78,800,308 (GRCm39)	K607E	probably benign	Het
Tnxb	A	T	17: 34,913,254 (GRCm39)	D1756V	probably damaging	Het
Trhde	A	G	10: 114,623,969 (GRCm39)	F312L	probably benign	Het
Ttn	G	A	2: 76,656,793 (GRCm39)	P12494L	probably null	Het
Vmn2r61	A	G	7: 41,916,097 (GRCm39)	R237G	probably benign	Het
Vps13c	A	T	9: 67,847,798 (GRCm39)	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,617,495 (GRCm39)	T692A	probably benign	Het
Whamm	A	G	7: 81,221,172 (GRCm39)	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,335 (GRCm39)	S105G	probably damaging	Het
Zfp108	T	A	7: 23,960,952 (GRCm39)	H514Q	probably benign	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Znfx1	T	C	2: 166,884,589 (GRCm39)	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,154,479 (GRCm39)	Y577H	probably 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
R7780:Tbl3	UTSW	17	24,921,205 (GRCm39)	missense	probably damaging	1.00
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'- ACCTTGGCACAGCTAGCAAAG -3'
(R):5'- CACTCCTTACAGTTGCAGAAACAG -3'

Sequencing Primer
(F):5'- AAGAGCCACCCCTTCCGG -3'
(R):5'- AACAGGTAAGCATTTGTTCCTGCC -3'

Posted On

2019-11-12