Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Tbl2'

566153

Institutional Source

Beutler Lab

Gene Symbol

Tbl2

Ensembl Gene

ENSMUSG00000005374

Gene Name

transducin (beta)-like 2

Synonyms

C76179, WS-bTRP

MMRRC Submission

045395-MU

Accession Numbers

Essential gene?

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

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135178288-135192727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135183253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 112 (I112N)

Ref Sequence

ENSEMBL: ENSMUSP00000115011 (fasta)

Gene Model

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

AlphaFold

Q9R099

Predicted Effect

probably damaging
Transcript: ENSMUST00000005508
AA Change: I112N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374
AA Change: I112N

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 damaging
Transcript: ENSMUST00000152013
AA Change: I77N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374
AA Change: I77N

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

possibly damaging
Transcript: ENSMUST00000153183
AA Change: I112N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374
AA Change: I112N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,131 (GRCm39)	D204E	probably benign	Het
Adh1	T	G	3: 137,988,493 (GRCm39)	D155E	probably benign	Het
Akt1s1	T	C	7: 44,498,571 (GRCm39)	L2P	unknown	Het
Ash1l	T	A	3: 88,873,199 (GRCm39)		probably benign	Het
Bend7	C	T	2: 4,757,641 (GRCm39)	P228S	probably damaging	Het
Bpifc	T	C	10: 85,824,585 (GRCm39)	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,479,001 (GRCm39)	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,632,846 (GRCm39)	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093 (GRCm39)	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,470,184 (GRCm39)	C782S	unknown	Het
Copg2	T	A	6: 30,801,341 (GRCm39)	I364L	probably damaging	Het
Crygb	A	G	1: 65,121,084 (GRCm39)	L81P	probably benign	Het
Cyp4f18	A	T	8: 72,747,017 (GRCm39)	M326K	probably damaging	Het
Dhx34	A	G	7: 15,949,361 (GRCm39)	S356P	probably benign	Het
Dmbt1	C	T	7: 130,685,519 (GRCm39)	Q855*	probably null	Het
Dnai3	T	C	3: 145,787,007 (GRCm39)	T343A	probably damaging	Het
Dnph1	A	G	17: 46,809,938 (GRCm39)	N160S	probably benign	Het
Esrra	A	T	19: 6,890,139 (GRCm39)	C228*	probably null	Het
Evpl	T	C	11: 116,114,775 (GRCm39)	N972D	probably benign	Het
Fat3	T	C	9: 15,909,888 (GRCm39)	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784 (GRCm38)	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,948,609 (GRCm39)	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,948,651 (GRCm39)	V286D	probably damaging	Het
Gemin4	A	T	11: 76,104,206 (GRCm39)	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,490,821 (GRCm39)	I311V	probably benign	Het
Ift172	T	C	5: 31,442,630 (GRCm39)	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,116,963 (GRCm39)	W66*	probably null	Het
Iqgap3	T	A	3: 88,016,142 (GRCm39)	I975N	probably damaging	Het
Khdrbs3	A	G	15: 68,921,262 (GRCm39)	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,365,523 (GRCm39)	T1369S	probably benign	Het
Mettl8	A	T	2: 70,812,382 (GRCm39)	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,293,059 (GRCm39)	C164F	probably damaging	Het
Mtg2	A	G	2: 179,725,180 (GRCm39)	Y131C	probably damaging	Het
Nacc1	C	T	8: 85,403,174 (GRCm39)	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641 (GRCm39)	V551I	probably benign	Het
Or13a26	T	A	7: 140,284,942 (GRCm39)	C259*	probably null	Het
Or7e175	T	A	9: 20,048,737 (GRCm39)	Y108*	probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Pcdhb12	T	A	18: 37,569,068 (GRCm39)	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkm	A	G	9: 59,576,196 (GRCm39)	S127G	probably benign	Het
Plxna2	T	A	1: 194,479,227 (GRCm39)	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,374,524 (GRCm39)	T135R	probably benign	Het
Ppp2r3d	T	C	9: 101,004,203 (GRCm39)	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,043,377 (GRCm39)	R426C	probably damaging	Het
Rad21	A	T	15: 51,845,976 (GRCm39)	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,545,776 (GRCm39)	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,335,883 (GRCm39)	A218T	possibly damaging	Het
Slc34a1	C	A	13: 24,003,095 (GRCm39)	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,458,785 (GRCm39)	E255*	probably null	Het
Slc8a3	T	A	12: 81,263,598 (GRCm39)	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 55,927,483 (GRCm39)		probably null	Het
Tchp	A	C	5: 114,853,630 (GRCm39)	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,189,207 (GRCm39)	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186 (GRCm38)	M324K	probably damaging	Het
Tmem259	A	T	10: 79,814,300 (GRCm39)	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,249,469 (GRCm39)	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,709 (GRCm39)	H107R	possibly damaging	Het
Trib1	T	C	15: 59,526,471 (GRCm39)	V347A	probably benign	Het
Ung	T	A	5: 114,269,315 (GRCm39)	L9*	probably null	Het
Vmn1r195	G	T	13: 22,463,174 (GRCm39)	V215F	probably damaging	Het
Wdr90	A	G	17: 26,065,286 (GRCm39)	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,708,487 (GRCm39)	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,432,832 (GRCm39)		probably null	Het
Zfp770	G	T	2: 114,026,142 (GRCm39)	C642*	probably null	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het
Zhx3	A	C	2: 160,623,042 (GRCm39)	V375G	probably 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
R3813:Tbl2	UTSW	5	135,185,375 (GRCm39)	critical splice donor site	probably null
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
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'- CTGACCTGTCCATCATCCAAG -3'
(R):5'- AAGGTAGACTCCTGATCCCTCC -3'

Sequencing Primer
(F):5'- AAGCCCCTGAGCCAGAGTG -3'
(R):5'- TCACTAAGCCCCAACTGGATATGTG -3'

Posted On

2019-06-26