Incidental Mutation 'R5710:Tbl1xr1'
ID 452157
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 044396-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # R5710 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 22130816-22270758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22264578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 511 (D511G)
Ref Sequence ENSEMBL: ENSMUSP00000144436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063988] [ENSMUST00000192328] [ENSMUST00000193734] [ENSMUST00000201509] [ENSMUST00000202747]
AlphaFold Q8BHJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000063988
AA Change: D511G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: D511G

DomainStartEndE-ValueType
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: D511G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: D511G

DomainStartEndE-ValueType
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: D511G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: D511G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000201467
AA Change: D63G
Predicted Effect probably benign
Transcript: ENSMUST00000201509
SMART Domains Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630

DomainStartEndE-ValueType
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: D511G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: D511G

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G A 14: 68,847,357 (GRCm39) H713Y probably damaging Het
Adam39 A T 8: 41,277,684 (GRCm39) Y25F probably benign Het
Ankfn1 T C 11: 89,394,751 (GRCm39) N278S probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap18 G A 10: 26,736,729 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,081,732 (GRCm39) Q107P probably benign Het
Btbd9 A G 17: 30,447,842 (GRCm39) S525P probably benign Het
Cabin1 A G 10: 75,482,852 (GRCm39) S2093P probably benign Het
Ccnd1 T C 7: 144,491,781 (GRCm39) D86G possibly damaging Het
Chdh C A 14: 29,756,584 (GRCm39) Q337K probably damaging Het
Cldn9 T C 17: 23,902,421 (GRCm39) D68G probably damaging Het
Cpt1b T A 15: 89,309,409 (GRCm39) K41N probably damaging Het
Dsg1c T C 18: 20,405,408 (GRCm39) Y274H probably benign Het
Eif2ak3 T A 6: 70,860,717 (GRCm39) I431N probably damaging Het
Erbb2 T A 11: 98,317,906 (GRCm39) W416R probably damaging Het
Fgd3 T A 13: 49,450,205 (GRCm39) I15F probably benign Het
Fkbp14 T A 6: 54,566,255 (GRCm39) probably null Het
Havcr1 T C 11: 46,643,353 (GRCm39) V91A probably damaging Het
Kmt2d T C 15: 98,751,987 (GRCm39) probably benign Het
Lipc T A 9: 70,719,979 (GRCm39) I343F probably benign Het
Madd T C 2: 90,984,821 (GRCm39) T1331A probably damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mdga2 C A 12: 66,553,556 (GRCm39) L98F probably damaging Het
Micall1 C A 15: 79,011,290 (GRCm39) H553Q probably damaging Het
Mxd4 A G 5: 34,344,671 (GRCm39) probably null Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prtg T A 9: 72,716,922 (GRCm39) Y88N probably damaging Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Sclt1 C A 3: 41,618,398 (GRCm39) E14* probably null Het
Shfl G T 9: 20,784,192 (GRCm39) R138L possibly damaging Het
Strn G A 17: 78,995,028 (GRCm39) L162F probably damaging Het
T T C 17: 8,660,474 (GRCm39) S221P probably benign Het
Ttc7 A C 17: 87,597,674 (GRCm39) N82T probably damaging Het
Ttn C T 2: 76,747,786 (GRCm39) R4421H possibly damaging Het
Uaca T A 9: 60,779,093 (GRCm39) L1158Q probably damaging Het
Vdr T C 15: 97,757,008 (GRCm39) Y288C probably damaging Het
Vdr A T 15: 97,765,089 (GRCm39) S217T probably benign Het
Zhx2 T A 15: 57,684,866 (GRCm39) Y78* probably null Het
Znhit1 C T 5: 137,011,456 (GRCm39) C119Y probably damaging Het
Other mutations in Tbl1xr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CACATCACAGCATATTGGCC -3'
(R):5'- TTCACAAGCTGGGATGAGAC -3'

Sequencing Primer
(F):5'- TCACAGCATATTGGCCCGATG -3'
(R):5'- AGACTGTCATCTTCAGGGTACAGC -3'
Posted On 2017-01-03