Mutagenetix > Incidental Mutation

Incidental Mutation 'R6816:Tbl2'

537327

Institutional Source

Beutler Lab

Gene Symbol

Tbl2

Ensembl Gene

ENSMUSG00000005374

Gene Name

transducin (beta)-like 2

Synonyms

C76179, WS-bTRP

MMRRC Submission

044928-MU

Accession Numbers

Essential gene?

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

Stock #

R6816 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135178288-135192727 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 135188069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115011 (fasta)

Gene Model

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

Coding Region Coverage

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

Validation Efficiency

96% (49/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,668,311 (GRCm39)	T458A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ankrd36	T	G	11: 5,593,765 (GRCm39)	F457V	possibly damaging	Het
Cep152	T	C	2: 125,436,947 (GRCm39)	E531G	probably damaging	Het
Dpf1	A	C	7: 29,011,087 (GRCm39)	D162A	possibly damaging	Het
E2f8	A	T	7: 48,525,331 (GRCm39)	Y214N	possibly damaging	Het
Fer1l5	A	T	1: 36,445,591 (GRCm39)	Y786F	possibly damaging	Het
Fhod1	G	T	8: 106,057,176 (GRCm39)	Q933K	probably benign	Het
Gdap2	T	C	3: 100,099,021 (GRCm39)		probably null	Het
Grin2d	A	G	7: 45,483,106 (GRCm39)		probably benign	Het
H2bc22	C	T	13: 21,971,947 (GRCm39)	S88L	probably benign	Het
Hgs	T	A	11: 120,362,397 (GRCm39)	V112D	probably damaging	Het
Igf2r	A	T	17: 12,932,969 (GRCm39)	V851E	probably damaging	Het
Igfn1	T	A	1: 135,887,466 (GRCm39)	T2533S	probably benign	Het
Iqch	C	T	9: 63,388,041 (GRCm39)	V750I	probably benign	Het
Itih2	A	G	2: 10,110,517 (GRCm39)	Y525H	probably damaging	Het
Kcnu1	C	T	8: 26,427,762 (GRCm39)	Q360*	probably null	Het
Klk1b26	A	G	7: 43,666,292 (GRCm39)	N245S	probably benign	Het
Kmt2c	T	C	5: 25,610,530 (GRCm39)		probably null	Het
Lhpp	T	C	7: 132,235,762 (GRCm39)	S116P	probably benign	Het
Madcam1	A	G	10: 79,501,274 (GRCm39)	D113G	probably damaging	Het
Magi3	A	T	3: 103,997,227 (GRCm39)		probably null	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mkrn2	C	T	6: 115,588,689 (GRCm39)	P144L	probably damaging	Het
Mon1a	T	C	9: 107,777,609 (GRCm39)	S171P	probably damaging	Het
Nrarp	T	C	2: 25,071,319 (GRCm39)	L66P	probably damaging	Het
P2ry1	T	A	3: 60,911,253 (GRCm39)	F131I	probably benign	Het
Pdzk1	A	G	3: 96,761,886 (GRCm39)	Q166R	probably benign	Het
Pigt	G	T	2: 164,343,052 (GRCm39)	V249F	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,595 (GRCm39)	V407L	probably benign	Het
Pramel58	A	T	5: 94,831,773 (GRCm39)	Q260L	possibly damaging	Het
Rab6a	G	T	7: 100,279,080 (GRCm39)	E73D	probably damaging	Het
Ralb	C	A	1: 119,405,712 (GRCm39)	G33*	probably null	Het
Sema3b	T	A	9: 107,477,549 (GRCm39)	M491L	probably benign	Het
Sema3c	A	C	5: 17,875,463 (GRCm39)	D40A	probably benign	Het
Slc22a1	T	C	17: 12,871,370 (GRCm39)	N464D	possibly damaging	Het
Spire2	T	A	8: 124,086,152 (GRCm39)	S295T	probably benign	Het
Stat3	T	G	11: 100,802,093 (GRCm39)	Q32P	probably damaging	Het
Sulf2	T	C	2: 165,924,674 (GRCm39)	T471A	probably benign	Het
Sult2b1	A	G	7: 45,383,102 (GRCm39)	W227R	probably damaging	Het
Syt2	T	A	1: 134,673,538 (GRCm39)	I294N	probably damaging	Het
Taar8b	A	T	10: 23,968,079 (GRCm39)	F38L	probably benign	Het
Tex48	G	A	4: 63,530,192 (GRCm39)	S9L	probably damaging	Het
Tmprss2	A	T	16: 97,369,667 (GRCm39)	M369K	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Tspoap1	T	C	11: 87,656,491 (GRCm39)	V263A	probably benign	Het
Vmn2r74	T	A	7: 85,610,621 (GRCm39)	R24*	probably null	Het
Wdr35	G	A	12: 9,077,724 (GRCm39)		probably null	Het
Zfp202	A	G	9: 40,123,109 (GRCm39)	R624G	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
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'- AGCAGTGAGTCTGGGGTACTTC -3'
(R):5'- GCCAGTGATGTCAAAAGTCAAG -3'

Sequencing Primer
(F):5'- CTGGGGTACTTCTGCCTGTC -3'
(R):5'- CCAGTGATGTCAAAAGTCAAGTCAGC -3'

Posted On

2018-10-18