Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Tbl2'

274145

Institutional Source

Beutler Lab

Gene Symbol

Tbl2

Ensembl Gene

ENSMUSG00000005374

Gene Name

transducin (beta)-like 2

Synonyms

C76179, WS-bTRP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135178288-135192727 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 135185375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005508] [ENSMUST00000139565] [ENSMUST00000152013] [ENSMUST00000152013] [ENSMUST00000153183] [ENSMUST00000201780]

AlphaFold

Q9R099

Predicted Effect

probably benign
Transcript: ENSMUST00000005508

SMART Domains

Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
WD40	75	114	1.89e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139565

SMART Domains

Protein: ENSMUSP00000120685
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152013

SMART Domains

Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
WD40	40	79	1.89e-9	SMART
Blast:WD40	87	126	3e-15	BLAST
WD40	138	177	1.67e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152013

SMART Domains

Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
WD40	40	79	1.89e-9	SMART
Blast:WD40	87	126	3e-15	BLAST
WD40	138	177	1.67e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153183

SMART Domains

Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
WD40	75	114	1.89e-9	SMART
Blast:WD40	122	161	5e-14	BLAST
WD40	173	212	1.67e-1	SMART
WD40	214	253	2.38e1	SMART
WD40	264	303	6.04e-8	SMART
Blast:WD40	313	353	4e-16	BLAST
WD40	358	395	1.28e0	SMART
coiled coil region	411	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201780

Meta Mutation Damage Score

0.9597

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Dll4	C	A	2: 119,161,510 (GRCm39)	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Klhl38	T	C	15: 58,185,953 (GRCm39)	I259V	probably benign	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Plk3	T	C	4: 116,990,647 (GRCm39)	Y89C	probably damaging	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Rbm17	T	A	2: 11,600,246 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Vps37d	G	A	5: 135,103,304 (GRCm39)	Q113*	probably null	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly damaging	Het

Other mutations in Tbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Tbl2	APN	5	135,185,217 (GRCm39)	unclassified	probably benign
IGL02669:Tbl2	APN	5	135,181,852 (GRCm39)	missense	probably damaging	1.00
R1160:Tbl2	UTSW	5	135,188,246 (GRCm39)	missense	probably benign	0.01
R1909:Tbl2	UTSW	5	135,181,845 (GRCm39)	missense	probably damaging	1.00
R1945:Tbl2	UTSW	5	135,186,454 (GRCm39)	missense	possibly damaging	0.56
R2156:Tbl2	UTSW	5	135,185,374 (GRCm39)	critical splice donor site	probably null
R2342:Tbl2	UTSW	5	135,187,607 (GRCm39)	missense	possibly damaging	0.81
R2392:Tbl2	UTSW	5	135,185,368 (GRCm39)	missense	probably benign	0.10
R5560:Tbl2	UTSW	5	135,186,445 (GRCm39)	nonsense	probably null
R6301:Tbl2	UTSW	5	135,188,223 (GRCm39)	missense	probably benign
R6723:Tbl2	UTSW	5	135,188,130 (GRCm39)	missense	probably damaging	1.00
R6816:Tbl2	UTSW	5	135,188,069 (GRCm39)	splice site	probably null
R7136:Tbl2	UTSW	5	135,178,682 (GRCm39)	missense	probably benign	0.23
R7288:Tbl2	UTSW	5	135,183,253 (GRCm39)	missense	possibly damaging	0.92
R7720:Tbl2	UTSW	5	135,188,329 (GRCm39)	missense	probably damaging	1.00
R9488:Tbl2	UTSW	5	135,187,471 (GRCm39)	missense	probably benign	0.09
X0024:Tbl2	UTSW	5	135,188,445 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGGAAGTAGCTCTGGTTTGC -3'
(R):5'- GGGCTGACATCTACATGTGTG -3'

Sequencing Primer
(F):5'- GCTTGTCTCTAGAGCCTTCATTG -3'
(R):5'- ATGGCAGCTCACAATTGGTC -3'

Posted On

2015-04-02