Mutagenetix > Incidental Mutation

Incidental Mutation 'R7173:Tbl3'

558457

Institutional Source

Beutler Lab

Gene Symbol

Tbl3

Ensembl Gene

ENSMUSG00000040688

Gene Name

transducin (beta)-like 3

Synonyms

9430070M15Rik

MMRRC Submission

045265-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7173 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24919627-24926627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24924233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 175 (T175A)

Ref Sequence

ENSEMBL: ENSMUSP00000120911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019464] [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: ENSMUST00000126319
AA Change: T175A

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

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
AA Change: T175A

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: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,833,848 (GRCm39)	V403I	possibly damaging	Het
Actn1	G	A	12: 80,224,033 (GRCm39)	R475C	possibly damaging	Het
Adam11	T	C	11: 102,662,757 (GRCm39)	L191P	possibly damaging	Het
Adam21	G	T	12: 81,606,008 (GRCm39)	Q585K	probably benign	Het
Akap3	T	C	6: 126,841,729 (GRCm39)	V116A	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Alx4	G	T	2: 93,473,202 (GRCm39)	G67C	possibly damaging	Het
Ankrd17	A	T	5: 90,407,976 (GRCm39)	C1414S	possibly damaging	Het
Ankrd44	T	C	1: 54,805,550 (GRCm39)	D170G	probably damaging	Het
Arpc2	T	A	1: 74,303,531 (GRCm39)	M266K	probably damaging	Het
Atp12a	A	T	14: 56,621,837 (GRCm39)	N794I	probably damaging	Het
Cabin1	A	G	10: 75,582,396 (GRCm39)	L340P	probably benign	Het
Ccer1	A	T	10: 97,529,217 (GRCm39)		probably benign	Het
Cfap73	A	T	5: 120,772,279 (GRCm39)	Y8N	probably damaging	Het
Cfhr4	C	A	1: 139,659,415 (GRCm39)	E705*	probably null	Het
Cln3	T	C	7: 126,178,589 (GRCm39)	T173A	probably damaging	Het
Cxcl3	A	T	5: 90,934,008 (GRCm39)		probably benign	Het
Cyp2c66	G	C	19: 39,159,401 (GRCm39)	C284S	probably benign	Het
Dnajc22	T	C	15: 98,999,187 (GRCm39)	V124A	probably benign	Het
Dync1h1	C	G	12: 110,568,173 (GRCm39)	D45E	probably benign	Het
Elmod3	A	T	6: 72,554,235 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,649,945 (GRCm39)	V827G	probably damaging	Het
Esyt2	T	C	12: 116,327,154 (GRCm39)	I574T	probably benign	Het
Ext2	A	T	2: 93,643,957 (GRCm39)	I108N	probably damaging	Het
Fam186a	T	C	15: 99,843,531 (GRCm39)	I904M	unknown	Het
Fmnl2	T	C	2: 53,004,202 (GRCm39)	I638T	unknown	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Fras1	G	T	5: 96,925,937 (GRCm39)	A3714S	probably damaging	Het
Fsd1	C	A	17: 56,303,696 (GRCm39)	R479S	possibly damaging	Het
Gaa	C	T	11: 119,169,817 (GRCm39)	L624F	probably damaging	Het
Galnt2	G	A	8: 125,032,292 (GRCm39)	V86I	probably benign	Het
Gdap1l1	T	G	2: 163,280,608 (GRCm39)	V48G	probably damaging	Het
Gm10549	A	G	18: 33,597,462 (GRCm39)	T83A	unknown	Het
Gm11437	T	G	11: 84,055,374 (GRCm39)	T81P	probably benign	Het
Gm16253	T	C	3: 96,487,979 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,504,595 (GRCm39)	M83K	probably benign	Het
Grik5	T	C	7: 24,767,587 (GRCm39)	D31G	probably damaging	Het
Hcrtr2	A	G	9: 76,167,013 (GRCm39)	L108P	probably damaging	Het
Herc2	T	A	7: 55,853,575 (GRCm39)	L3689Q	probably damaging	Het
Igf2bp1	T	C	11: 95,859,290 (GRCm39)	M407V	probably benign	Het
Irgq	A	T	7: 24,233,185 (GRCm39)	E342V	probably damaging	Het
Itih2	A	T	2: 10,109,974 (GRCm39)	I593N	probably damaging	Het
Ivd	G	T	2: 118,701,870 (GRCm39)	G101C	probably damaging	Het
Jakmip1	G	A	5: 37,248,708 (GRCm39)	G123S	probably damaging	Het
Kif14	T	A	1: 136,406,908 (GRCm39)	I580N	probably damaging	Het
Kmt2e	A	T	5: 23,669,855 (GRCm39)	Y114F	probably damaging	Het
Ly6g5b	C	A	17: 35,333,680 (GRCm39)	C99F	probably damaging	Het
Map3k20	C	T	2: 72,271,758 (GRCm39)	P629S	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,582,862 (GRCm39)	F476L	probably damaging	Het
Mup18	T	C	4: 61,590,199 (GRCm39)	T110A	probably benign	Het
Nlrp9a	A	G	7: 26,257,603 (GRCm39)	D407G	probably benign	Het
Nmur1	G	A	1: 86,314,190 (GRCm39)	R359C	probably benign	Het
Or5ac24	T	C	16: 59,165,510 (GRCm39)	T185A	probably benign	Het
Or5p64	C	T	7: 107,854,955 (GRCm39)	C130Y	possibly damaging	Het
Panx3	A	T	9: 37,572,596 (GRCm39)	M318K	probably damaging	Het
Pcnx1	T	C	12: 81,999,777 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,241 (GRCm39)	Y1063C	possibly damaging	Het
Psme3ip1	A	T	8: 95,315,486 (GRCm39)	F15L	probably damaging	Het
Rere	G	A	4: 150,553,195 (GRCm39)	R129H	probably damaging	Het
Rpgrip1	A	G	14: 52,349,633 (GRCm39)	Y7C	possibly damaging	Het
Serpina6	T	C	12: 103,613,253 (GRCm39)	N349S	possibly damaging	Het
Slc10a1	T	G	12: 81,002,750 (GRCm39)	E296A	probably damaging	Het
Slc2a9	A	T	5: 38,610,214 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,873,221 (GRCm39)	M138K	probably benign	Het
Tbrg4	T	C	11: 6,570,810 (GRCm39)	T221A	possibly damaging	Het
Tenm2	T	C	11: 35,932,378 (GRCm39)	T1739A	probably damaging	Het
Tmed5	T	C	5: 108,280,187 (GRCm39)	D35G	probably benign	Het
Tnfsf15	A	T	4: 63,647,889 (GRCm39)	S250R	probably damaging	Het
Tnpo2	G	T	8: 85,781,707 (GRCm39)	V830F	probably benign	Het
Ttbk2	G	T	2: 120,570,592 (GRCm39)	S1187Y	probably damaging	Het
Ttn	G	A	2: 76,625,029 (GRCm39)	T15183M	possibly damaging	Het
Tubgcp3	T	C	8: 12,689,259 (GRCm39)		probably null	Het
Vmn1r38	T	C	6: 66,753,278 (GRCm39)	I279M	possibly damaging	Het
Vmn1r49	A	T	6: 90,049,250 (GRCm39)	Y251N	possibly damaging	Het
Vmn1r66	C	T	7: 10,008,482 (GRCm39)	V184I	probably benign	Het
Vmn2r26	T	A	6: 124,038,255 (GRCm39)	M610K	probably benign	Het
Xrn2	C	T	2: 146,884,013 (GRCm39)	P591S	probably damaging	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
R7176:Tbl3	UTSW	17	24,919,732 (GRCm39)	missense	probably benign	0.01
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'- TGTTGCAGTCTCAGCCTTGG -3'
(R):5'- ACACACCACTTTCGAGGCTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CTTGGAAGTCCAGCTCAT -3'

Posted On

2019-06-26