Mutagenetix > Incidental Mutations

Incidental Mutation 'R8108:Tbl3'

630765

Institutional Source

Beutler Lab

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24697949-24707660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24700916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 751 (D751E)

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: D751E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: D751E

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: D288E

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,017,361	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153	T332A	unknown	Het
Chd9	C	T	8: 90,933,224	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246	Y119C	probably benign	Het
Dscam	G	C	16: 96,643,879	D1537E	probably benign	Het
Dusp16	A	G	6: 134,739,873	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829	D508G	probably benign	Het
Endov	T	C	11: 119,507,411	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379		probably null	Het
Gm1110	T	C	9: 26,920,661	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200	V19A		Het
Gm436	A	T	4: 144,670,669	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Grm1	C	A	10: 10,720,132	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945	F141S	possibly damaging	Het
Kifap3	T	A	1: 163,797,362	N162K	probably damaging	Het
Klhl5	A	G	5: 65,148,587		probably null	Het
Klre1	A	G	6: 129,584,222	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960	V519I	probably benign	Het
Npat	G	T	9: 53,571,129	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634	T3870S	probably benign	Het
Olfr1000	T	C	2: 85,608,749	R54G	possibly damaging	Het
Olfr1288	T	C	2: 111,479,234	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225		probably null	Het
Proser1	T	A	3: 53,472,088		probably null	Het
Reg3d	T	A	6: 78,376,079	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154	I338V	possibly damaging	Het
Slc35g1	C	G	19: 38,402,829	S186R	probably damaging	Het
Slc35g1	T	A	19: 38,402,831	L187H	probably damaging	Het
Spata5	T	C	3: 37,431,782	S218P	probably benign	Het
Tbc1d5	T	C	17: 50,742,086	I659V	probably benign	Het
Tdrd3	T	A	14: 87,486,266	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305	N178K	probably benign	Het

Other mutations in Tbl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Tbl3	APN	17	24701905	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTGTGCCACAGGAAGTCC -3'
(R):5'- TACTCCGACTGCGAAGAGAC -3'

Sequencing Primer
(F):5'- CCAGGAAGGTGGCTGCTTG -3'
(R):5'- AAAGGTTGTGGGCAGGCTG -3'

Posted On

2020-06-30