Mutagenetix > Incidental Mutation

Incidental Mutation 'R0811:Tbl1xr1'

78510

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

038991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R0811 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22130816-22270758 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 22254751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063988] [ENSMUST00000192328] [ENSMUST00000193734] [ENSMUST00000201509] [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: ENSMUST00000201467

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (44/44)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,763,229 (GRCm39)	S586P	probably damaging	Het
Ap5z1	G	A	5: 142,461,546 (GRCm39)	R583H	probably benign	Het
Arhgap28	TCAGCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAGCAG	17: 68,208,294 (GRCm39)		probably benign	Het
Arrb1	G	T	7: 99,247,708 (GRCm39)	V346L	probably benign	Het
Atrnl1	T	A	19: 57,661,573 (GRCm39)	F518I	probably benign	Het
Bank1	T	A	3: 135,799,127 (GRCm39)	I405F	probably damaging	Het
Cacna1h	A	G	17: 25,607,602 (GRCm39)	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,860,465 (GRCm39)	Y826H	probably benign	Het
Cenpo	A	G	12: 4,266,643 (GRCm39)	V155A	probably benign	Het
Cnmd	A	G	14: 79,898,863 (GRCm39)	F63S	probably damaging	Het
Cnn3	G	A	3: 121,248,600 (GRCm39)	G72D	probably damaging	Het
Cox10	A	G	11: 63,962,539 (GRCm39)	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,433,806 (GRCm39)	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Dennd5a	G	A	7: 109,532,820 (GRCm39)	H317Y	possibly damaging	Het
Dnaaf9	A	G	2: 130,555,334 (GRCm39)	F858S	probably damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Enox1	T	A	14: 77,819,876 (GRCm39)	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,198,464 (GRCm39)	N190S	probably damaging	Het
Fat2	T	A	11: 55,144,459 (GRCm39)	K4138N	possibly damaging	Het
Fat4	A	T	3: 39,011,623 (GRCm39)	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,245,090 (GRCm39)	V266I	possibly damaging	Het
Fras1	T	A	5: 96,900,857 (GRCm39)	S3025R	probably benign	Het
Gba1	T	C	3: 89,111,307 (GRCm39)	I24T	probably benign	Het
Gdpd5	A	G	7: 99,087,540 (GRCm39)	D68G	probably damaging	Het
Grid1	G	A	14: 34,544,576 (GRCm39)	S49N	probably benign	Het
Grtp1	T	C	8: 13,229,639 (GRCm39)	T250A	possibly damaging	Het
Gucy1b1	T	C	3: 81,945,295 (GRCm39)	N448D	probably benign	Het
Hmcn2	G	A	2: 31,310,383 (GRCm39)	A3326T	probably damaging	Het
Ippk	C	A	13: 49,596,947 (GRCm39)	Q254K	probably damaging	Het
Itga2	A	T	13: 115,007,150 (GRCm39)	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,102,575 (GRCm39)	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,205,141 (GRCm39)	D119N	probably damaging	Het
Kcnip4	T	A	5: 48,567,202 (GRCm39)	T122S	probably benign	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,610,453 (GRCm39)	M568K	probably benign	Het
Krt6a	C	T	15: 101,601,183 (GRCm39)	V257M	probably damaging	Het
Ksr2	A	C	5: 117,693,290 (GRCm39)	H246P	probably damaging	Het
Lca5	T	C	9: 83,281,806 (GRCm39)	D326G	possibly damaging	Het
Lcp1	A	G	14: 75,451,928 (GRCm39)	E393G	probably benign	Het
Leo1	G	A	9: 75,352,831 (GRCm39)	E125K	probably benign	Het
Lipt1	T	A	1: 37,914,382 (GRCm39)	V146E	probably damaging	Het
Mael	A	T	1: 166,062,968 (GRCm39)		probably null	Het
Mga	C	T	2: 119,778,442 (GRCm39)	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,569,387 (GRCm39)	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,436,822 (GRCm39)	D507E	probably damaging	Het
Mvp	G	A	7: 126,586,728 (GRCm39)	A801V	probably benign	Het
Neb	T	C	2: 52,182,707 (GRCm39)	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,231,585 (GRCm39)	L79I	probably benign	Het
Or1e1f	G	A	11: 73,856,246 (GRCm39)	E271K	probably benign	Het
Or1o2	A	C	17: 37,543,223 (GRCm39)	L13V	probably benign	Het
Or8d2	G	A	9: 38,759,805 (GRCm39)	V132I	probably benign	Het
Pithd1	A	G	4: 135,704,445 (GRCm39)		probably benign	Het
Pnpla8	G	A	12: 44,330,188 (GRCm39)	V29M	probably benign	Het
Psmb2	T	A	4: 126,601,350 (GRCm39)	I151N	possibly damaging	Het
Ptgs2	C	T	1: 149,977,105 (GRCm39)	T104I	probably benign	Het
Ptpro	A	G	6: 137,345,077 (GRCm39)	T28A	probably benign	Het
Raf1	A	G	6: 115,603,671 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,301,351 (GRCm39)	M668T	probably benign	Het
Rbm48	A	T	5: 3,641,760 (GRCm39)		probably null	Het
Rhag	A	T	17: 41,142,469 (GRCm39)	T225S	possibly damaging	Het
Rhof	A	C	5: 123,269,950 (GRCm39)	L69R	probably damaging	Het
Slc22a1	T	C	17: 12,885,505 (GRCm39)		probably benign	Het
Slc24a5	T	C	2: 124,910,724 (GRCm39)	S52P	probably damaging	Het
Slc8a2	T	C	7: 15,875,039 (GRCm39)	V429A	probably damaging	Het
Spam1	G	A	6: 24,796,886 (GRCm39)	R279H	probably damaging	Het
Spata16	T	A	3: 26,967,487 (GRCm39)		probably benign	Het
Srfbp1	A	G	18: 52,620,588 (GRCm39)	D102G	probably damaging	Het
Srrm3	A	C	5: 135,902,136 (GRCm39)		probably benign	Het
Tk1	T	C	11: 117,712,933 (GRCm39)	E98G	probably damaging	Het
Trim13	G	A	14: 61,843,149 (GRCm39)	V389I	probably benign	Het
Ttc28	A	T	5: 111,383,366 (GRCm39)	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt1a10	T	A	1: 87,983,904 (GRCm39)	V234D	probably benign	Het
Vmn2r75	C	T	7: 85,814,575 (GRCm39)	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,289,497 (GRCm39)	V133I	probably benign	Het
Vps13c	C	A	9: 67,841,758 (GRCm39)	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp219	T	A	14: 52,244,395 (GRCm39)	T550S	probably benign	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	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
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
R1914:Tbl1xr1	UTSW	3	22,245,074 (GRCm39)	splice site	probably benign
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'- GACACACGGTAAGAAGTCTTTCCCC -3'
(R):5'- GATTAACCTATGCCTCGACTGCCTC -3'

Sequencing Primer
(F):5'- AGAAGTCTTTCCCCTTCTGTAAATGG -3'
(R):5'- TGTCATCTGAACAGGAGGCT -3'

Posted On

2013-10-16