Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Tbl1xr1'

617806

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

067468-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22130816-22270758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22254600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 348 (H348Y)

Ref Sequence

ENSEMBL: ENSMUSP00000067164 (fasta)

Gene Model

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

AlphaFold

Q8BHJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063988
AA Change: H348Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: H348Y

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 damaging
Transcript: ENSMUST00000192328
AA Change: H348Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: H348Y

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 damaging
Transcript: ENSMUST00000193734
AA Change: H348Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: H348Y

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 damaging
Transcript: ENSMUST00000201509
AA Change: H348Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: H348Y

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 damaging
Transcript: ENSMUST00000202747
AA Change: H348Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: H348Y

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably 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
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
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'- TAAAGCTCCTGGGTAACACACG -3'
(R):5'- ATGTCATGTCATCTGAACAGGAGG -3'

Sequencing Primer
(F):5'- ACACGTGTGCTCAGTGC -3'
(R):5'- GGGTCCCATTTGATAGCATTTAC -3'

Posted On

2020-01-23