Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Tbl1xr1'

104985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbl1xr1

Ensembl Gene

ENSMUSG00000027630

Gene Name

transducin (beta)-like 1X-linked receptor 1

Synonyms

8030499H02Rik, Ira1, DC42, A630076E03Rik, C21, C230089I12Rik, TBLR1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.889) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

22076652-22216594 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22193171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063988] [ENSMUST00000192328] [ENSMUST00000193734] [ENSMUST00000200793] [ENSMUST00000200943] [ENSMUST00000201509] [ENSMUST00000202356] [ENSMUST00000202747]

AlphaFold

Q8BHJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000063988

SMART Domains

Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	5.63e-6	SMART
low complexity region	124	138	N/A	INTRINSIC
WD40	158	197	4.91e-8	SMART
WD40	208	253	9.38e-5	SMART
WD40	255	294	4.51e-7	SMART
WD40	297	335	6.89e-3	SMART
WD40	338	377	9.22e-13	SMART
WD40	380	428	1.64e-9	SMART
WD40	431	470	3.26e-13	SMART
WD40	473	511	3.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192328

SMART Domains

Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	5.63e-6	SMART
low complexity region	124	138	N/A	INTRINSIC
WD40	158	197	4.91e-8	SMART
WD40	208	253	9.38e-5	SMART
WD40	255	294	4.51e-7	SMART
WD40	297	335	6.89e-3	SMART
WD40	338	377	9.22e-13	SMART
WD40	380	428	1.64e-9	SMART
WD40	431	470	3.26e-13	SMART
WD40	473	511	3.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193734

SMART Domains

Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	5.63e-6	SMART
low complexity region	124	138	N/A	INTRINSIC
WD40	158	197	4.91e-8	SMART
WD40	208	253	9.38e-5	SMART
WD40	255	294	4.51e-7	SMART
WD40	297	335	6.89e-3	SMART
WD40	338	377	9.22e-13	SMART
WD40	380	428	1.64e-9	SMART
WD40	431	470	3.26e-13	SMART
WD40	473	511	3.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200793

SMART Domains

Protein: ENSMUSP00000144138
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	1.7e-8	SMART
low complexity region	124	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200943

SMART Domains

Protein: ENSMUSP00000144602
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	1.7e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201509

SMART Domains

Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	1.7e-8	SMART
low complexity region	124	138	N/A	INTRINSIC
WD40	158	197	3.2e-10	SMART
WD40	208	253	6.2e-7	SMART
WD40	255	294	2.9e-9	SMART
WD40	297	335	4.5e-5	SMART
WD40	338	377	5.9e-15	SMART
WD40	380	428	1.1e-11	SMART
WD40	431	470	2.1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202149

Predicted Effect

probably benign
Transcript: ENSMUST00000202356

SMART Domains

Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	1.7e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202647

Predicted Effect

probably benign
Transcript: ENSMUST00000202747

SMART Domains

Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630

Domain	Start	End	E-Value	Type
LisH	4	36	5.63e-6	SMART
low complexity region	124	138	N/A	INTRINSIC
WD40	158	197	4.91e-8	SMART
WD40	208	253	9.38e-5	SMART
WD40	255	294	4.51e-7	SMART
WD40	297	335	6.89e-3	SMART
WD40	338	377	9.22e-13	SMART
WD40	380	428	1.64e-9	SMART
WD40	431	470	3.26e-13	SMART
WD40	473	511	3.85e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in adipose tissue exhibit increased body weight, and total body fat and increased susceptibility to diet-induced obesity and impaired glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Tbl1xr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Tbl1xr1	APN	3	22192268	critical splice donor site	probably null
IGL00825:Tbl1xr1	APN	3	22189786	splice site	probably null
IGL01622:Tbl1xr1	APN	3	22192074	missense	probably benign	0.01
IGL01623:Tbl1xr1	APN	3	22192074	missense	probably benign	0.01
IGL02421:Tbl1xr1	APN	3	22203163	missense	probably damaging	0.99
IGL03117:Tbl1xr1	APN	3	22203159	nonsense	probably null
R0076:Tbl1xr1	UTSW	3	22189785	missense	probably benign	0.06
R0601:Tbl1xr1	UTSW	3	22179319	splice site	probably benign
R0629:Tbl1xr1	UTSW	3	22210401	missense	probably benign	0.41
R0654:Tbl1xr1	UTSW	3	22203994	critical splice donor site	probably null
R0811:Tbl1xr1	UTSW	3	22200587	splice site	probably benign
R1457:Tbl1xr1	UTSW	3	22193169	critical splice donor site	probably null
R1496:Tbl1xr1	UTSW	3	22190951	missense	possibly damaging	0.68
R1914:Tbl1xr1	UTSW	3	22190910	splice site	probably benign
R2680:Tbl1xr1	UTSW	3	22191451	missense	possibly damaging	0.76
R3929:Tbl1xr1	UTSW	3	22189768	missense	probably damaging	1.00
R4193:Tbl1xr1	UTSW	3	22200358	missense	possibly damaging	0.90
R4440:Tbl1xr1	UTSW	3	22200588	critical splice acceptor site	probably null
R4642:Tbl1xr1	UTSW	3	22188420	missense	probably damaging	1.00
R5187:Tbl1xr1	UTSW	3	22209606	missense	probably damaging	1.00
R5361:Tbl1xr1	UTSW	3	22192069	missense	probably damaging	0.97
R5430:Tbl1xr1	UTSW	3	22192082	missense	probably benign	0.01
R5710:Tbl1xr1	UTSW	3	22210414	missense	probably damaging	0.99
R6490:Tbl1xr1	UTSW	3	22203977	missense	probably damaging	0.97
R6512:Tbl1xr1	UTSW	3	22140534	intron	probably benign
R6778:Tbl1xr1	UTSW	3	22189782	missense	probably benign	0.00
R6861:Tbl1xr1	UTSW	3	22191439	missense	possibly damaging	0.68
R6861:Tbl1xr1	UTSW	3	22191539	splice site	probably null
R6878:Tbl1xr1	UTSW	3	22203204	missense	possibly damaging	0.90
R6998:Tbl1xr1	UTSW	3	22179290	missense	probably damaging	1.00
R7409:Tbl1xr1	UTSW	3	22203190	missense	possibly damaging	0.56
R8029:Tbl1xr1	UTSW	3	22200436	missense	probably damaging	0.98
R8670:Tbl1xr1	UTSW	3	22191000	missense	probably damaging	1.00
R9251:Tbl1xr1	UTSW	3	22210405	missense	probably benign	0.21
R9339:Tbl1xr1	UTSW	3	22203986	missense	possibly damaging	0.72
X0011:Tbl1xr1	UTSW	3	22203092	splice site	probably null

Posted On

2014-01-21