Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Tbl3'

558646

Institutional Source

Beutler Lab

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

9430070M15Rik

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24919627-24926627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24919732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 774 (T774I)

Ref Sequence

ENSEMBL: ENSMUSP00000120911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000046839] [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: ENSMUST00000046839

SMART Domains

Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	48	54	N/A	INTRINSIC
Pfam:Evr1_Alr	97	189	2.6e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126319
AA Change: T774I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: T774I

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: 100.0%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	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
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
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'- TTCCTAGAGATGACGCCTCG -3'
(R):5'- TCCAGACATTGCCACGAAGC -3'

Sequencing Primer
(F):5'- TAGAGATGACGCCTCGGTCAG -3'
(R):5'- ATTGCCACGAAGCCCAGG -3'

Posted On

2019-06-26