Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Tbl1xr1'

214655

Institutional Source

Beutler Lab

Gene Symbol

Tbl1xr1

Ensembl Gene

ENSMUSG00000027630

Gene Name

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

Synonyms

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

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22130816-22270758 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 22245074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144436 (fasta)

Gene Model

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

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202647

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het

Other mutations in Tbl1xr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Tbl1xr1	APN	3	22,246,432 (GRCm39)	critical splice donor site	probably null
IGL00825:Tbl1xr1	APN	3	22,243,950 (GRCm39)	splice site	probably null
IGL01622:Tbl1xr1	APN	3	22,246,238 (GRCm39)	missense	probably benign	0.01
IGL01623:Tbl1xr1	APN	3	22,246,238 (GRCm39)	missense	probably benign	0.01
IGL01717:Tbl1xr1	APN	3	22,247,335 (GRCm39)	splice site	probably benign
IGL02421:Tbl1xr1	APN	3	22,257,327 (GRCm39)	missense	probably damaging	0.99
IGL03117:Tbl1xr1	APN	3	22,257,323 (GRCm39)	nonsense	probably null
R0076:Tbl1xr1	UTSW	3	22,243,949 (GRCm39)	missense	probably benign	0.06
R0601:Tbl1xr1	UTSW	3	22,233,483 (GRCm39)	splice site	probably benign
R0629:Tbl1xr1	UTSW	3	22,264,565 (GRCm39)	missense	probably benign	0.41
R0654:Tbl1xr1	UTSW	3	22,258,158 (GRCm39)	critical splice donor site	probably null
R0811:Tbl1xr1	UTSW	3	22,254,751 (GRCm39)	splice site	probably benign
R1457:Tbl1xr1	UTSW	3	22,247,333 (GRCm39)	critical splice donor site	probably null
R1496:Tbl1xr1	UTSW	3	22,245,115 (GRCm39)	missense	possibly damaging	0.68
R2680:Tbl1xr1	UTSW	3	22,245,615 (GRCm39)	missense	possibly damaging	0.76
R3929:Tbl1xr1	UTSW	3	22,243,932 (GRCm39)	missense	probably damaging	1.00
R4193:Tbl1xr1	UTSW	3	22,254,522 (GRCm39)	missense	possibly damaging	0.90
R4440:Tbl1xr1	UTSW	3	22,254,752 (GRCm39)	critical splice acceptor site	probably null
R4642:Tbl1xr1	UTSW	3	22,242,584 (GRCm39)	missense	probably damaging	1.00
R5187:Tbl1xr1	UTSW	3	22,263,770 (GRCm39)	missense	probably damaging	1.00
R5361:Tbl1xr1	UTSW	3	22,246,233 (GRCm39)	missense	probably damaging	0.97
R5430:Tbl1xr1	UTSW	3	22,246,246 (GRCm39)	missense	probably benign	0.01
R5710:Tbl1xr1	UTSW	3	22,264,578 (GRCm39)	missense	probably damaging	0.99
R6490:Tbl1xr1	UTSW	3	22,258,141 (GRCm39)	missense	probably damaging	0.97
R6512:Tbl1xr1	UTSW	3	22,194,698 (GRCm39)	intron	probably benign
R6778:Tbl1xr1	UTSW	3	22,243,946 (GRCm39)	missense	probably benign	0.00
R6861:Tbl1xr1	UTSW	3	22,245,703 (GRCm39)	splice site	probably null
R6861:Tbl1xr1	UTSW	3	22,245,603 (GRCm39)	missense	possibly damaging	0.68
R6878:Tbl1xr1	UTSW	3	22,257,368 (GRCm39)	missense	possibly damaging	0.90
R6998:Tbl1xr1	UTSW	3	22,233,454 (GRCm39)	missense	probably damaging	1.00
R7409:Tbl1xr1	UTSW	3	22,257,354 (GRCm39)	missense	possibly damaging	0.56
R8029:Tbl1xr1	UTSW	3	22,254,600 (GRCm39)	missense	probably damaging	0.98
R8670:Tbl1xr1	UTSW	3	22,245,164 (GRCm39)	missense	probably damaging	1.00
R9251:Tbl1xr1	UTSW	3	22,264,569 (GRCm39)	missense	probably benign	0.21
R9339:Tbl1xr1	UTSW	3	22,258,150 (GRCm39)	missense	possibly damaging	0.72
X0011:Tbl1xr1	UTSW	3	22,257,256 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TATCAGCAACCCCTACTGGC -3'
(R):5'- GCAAGGTTACAGAGTAAATCCTGTC -3'

Sequencing Primer
(F):5'- CTGGCAGAACTCAGAATAGTATTG -3'
(R):5'- ACAGAGTAAATCCTGTCTAAAACAAC -3'

Posted On

2014-07-14