Incidental Mutation 'R6861:Tbl1xr1'
ID 535495
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 044962-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.893) question?
Stock # R6861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 22130816-22270758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22245603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 203 (T203M)
Ref Sequence ENSEMBL: ENSMUSP00000144547 (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
AA Change: T203M

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: T203M

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 benign
Transcript: ENSMUST00000192328
AA Change: T203M

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: T203M

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 benign
Transcript: ENSMUST00000193734
AA Change: T203M

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: T203M

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 benign
Transcript: ENSMUST00000200793
SMART Domains Protein: ENSMUSP00000144138
Gene: ENSMUSG00000027630

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
LisH 4 36 1.7e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000201509
AA Change: T203M

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: T203M

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 benign
Transcript: ENSMUST00000202356
SMART Domains Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630

DomainStartEndE-ValueType
LisH 4 36 1.7e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202747
AA Change: T203M

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: T203M

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G A 3: 95,588,194 (GRCm39) R598C probably damaging Het
Adra2a T C 19: 54,034,818 (GRCm39) L58P probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Alox5ap A G 5: 149,201,927 (GRCm39) D2G probably damaging Het
Arid1b G A 17: 5,377,961 (GRCm39) V1238M possibly damaging Het
Bank1 A G 3: 135,960,764 (GRCm39) V31A probably benign Het
Bptf G A 11: 106,953,391 (GRCm39) T2117M probably damaging Het
Cadps G A 14: 12,522,401 (GRCm38) R588* probably null Het
Cavin4 A G 4: 48,672,214 (GRCm39) I220V probably benign Het
Cep192 G A 18: 67,974,699 (GRCm39) M1267I probably benign Het
Cers5 G A 15: 99,670,244 (GRCm39) probably benign Het
Cfap65 A T 1: 74,964,274 (GRCm39) I558N probably damaging Het
Cfh A T 1: 140,028,621 (GRCm39) S1025T probably benign Het
Cftr A G 6: 18,268,107 (GRCm39) I689V probably benign Het
Cgrrf1 T C 14: 47,069,785 (GRCm39) I18T probably damaging Het
CK137956 A G 4: 127,864,519 (GRCm39) S37P probably damaging Het
Clca4a T C 3: 144,676,416 (GRCm39) D88G probably benign Het
Col11a1 G A 3: 113,961,141 (GRCm39) G1166D probably damaging Het
Col24a1 G A 3: 145,166,589 (GRCm39) G1075S probably damaging Het
Crispld2 C T 8: 120,752,852 (GRCm39) T299M probably damaging Het
Cyb561a3 T A 19: 10,562,701 (GRCm39) Y114N probably damaging Het
Cyp3a57 T A 5: 145,307,773 (GRCm39) W147R possibly damaging Het
Dnah2 C A 11: 69,346,789 (GRCm39) R2599L possibly damaging Het
Dock1 T A 7: 134,373,207 (GRCm39) S525T probably benign Het
Drc7 T G 8: 95,789,025 (GRCm39) probably null Het
Efhd2 G T 4: 141,587,192 (GRCm39) probably null Het
Epb41l1 A T 2: 156,367,142 (GRCm39) E658D probably benign Het
Evi5 C T 5: 107,896,184 (GRCm39) S753N probably benign Het
Exoc3 A T 13: 74,337,319 (GRCm39) D427E probably benign Het
Fbxw9 A G 8: 85,792,740 (GRCm39) D363G probably damaging Het
Fcer2a T C 8: 3,732,910 (GRCm39) Y277C probably damaging Het
Fstl5 A T 3: 76,229,523 (GRCm39) Y108F probably damaging Het
Gcn1 A G 5: 115,749,108 (GRCm39) D1880G probably benign Het
Gm4924 T A 10: 82,214,948 (GRCm39) Y915* probably null Het
Gpr139 T A 7: 118,743,875 (GRCm39) I237F probably benign Het
Hao2 A G 3: 98,784,498 (GRCm39) L289S probably damaging Het
Hexim1 A G 11: 103,007,793 (GRCm39) S16G probably benign Het
Hmgcs1 T A 13: 120,161,535 (GRCm39) M109K probably damaging Het
Hs3st4 T A 7: 123,996,052 (GRCm39) N239K possibly damaging Het
Hsd3b5 T A 3: 98,529,328 (GRCm39) N101Y probably damaging Het
Idh2 G A 7: 79,747,966 (GRCm39) P245S probably damaging Het
Irx3 A G 8: 92,525,530 (GRCm39) probably benign Het
Lilra5 A T 7: 4,244,931 (GRCm39) D234V probably benign Het
Lrfn5 G A 12: 61,886,476 (GRCm39) S88N probably damaging Het
Lrp2 A T 2: 69,343,721 (GRCm39) S879R possibly damaging Het
Lsm11 A G 11: 45,824,781 (GRCm39) S249P probably benign Het
Ltbp1 C T 17: 75,534,187 (GRCm39) A543V possibly damaging Het
Mbd1 GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,645 (GRCm39) Het
Mier2 C T 10: 79,376,990 (GRCm39) probably benign Het
Mup6 G C 4: 60,004,093 (GRCm39) G70A probably benign Het
Neb A G 2: 52,085,732 (GRCm39) L5258P probably damaging Het
Nlrc5 G A 8: 95,247,857 (GRCm39) probably benign Het
Nr6a1 A T 2: 38,630,597 (GRCm39) F207I possibly damaging Het
Or2y1 A T 11: 49,385,632 (GRCm39) T91S probably benign Het
Or5k17 A T 16: 58,746,867 (GRCm39) D22E probably benign Het
Or8b43 T C 9: 38,360,731 (GRCm39) C188R probably damaging Het
Osbp2 A G 11: 3,665,191 (GRCm39) V51A possibly damaging Het
Papln G T 12: 83,821,723 (GRCm39) C317F probably damaging Het
Pdcd7 T C 9: 65,265,904 (GRCm39) S454P probably damaging Het
Pde4a C T 9: 21,116,597 (GRCm39) T473I probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,385 (GRCm39) S279* probably null Het
Rbl1 A G 2: 156,994,887 (GRCm39) Y929H probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall3 C A 18: 81,017,590 (GRCm39) E113* probably null Het
Scn5a A C 9: 119,359,089 (GRCm39) F653V probably damaging Het
Selenok T A 14: 29,692,005 (GRCm39) N14K possibly damaging Het
Slc22a20 T C 19: 6,021,838 (GRCm39) T426A probably benign Het
Slc4a2 T A 5: 24,640,007 (GRCm39) S563T probably damaging Het
Sspo T A 6: 48,464,889 (GRCm39) S3798T probably benign Het
Stag3 G T 5: 138,302,969 (GRCm39) R63L possibly damaging Het
Stard9 A T 2: 120,535,667 (GRCm39) M3975L probably benign Het
Syne2 C A 12: 75,956,040 (GRCm39) T582K probably damaging Het
Synj1 G A 16: 90,760,768 (GRCm39) Q748* probably null Het
Tas2r109 T C 6: 132,957,048 (GRCm39) D294G probably benign Het
Tcf7l2 A G 19: 55,730,955 (GRCm39) D19G probably damaging Het
Tecta A G 9: 42,248,633 (GRCm39) V1923A possibly damaging Het
Tg T A 15: 66,560,740 (GRCm39) M1034K probably benign Het
Ttf2 T C 3: 100,876,941 (GRCm39) E8G possibly damaging Het
Vps13b T A 15: 35,576,541 (GRCm39) V983E probably damaging Het
Vps35l A G 7: 118,342,898 (GRCm39) H32R probably damaging Het
Vwa2 T C 19: 56,890,025 (GRCm39) V210A probably benign Het
Xkr6 T A 14: 64,057,093 (GRCm39) Y335N probably benign Het
Zfp97 A G 17: 17,365,437 (GRCm39) H312R 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
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
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'- TGCAGCATGACAATGGCATC -3'
(R):5'- ATATGGGGCCAGATTGAAGC -3'

Sequencing Primer
(F):5'- TGACAATGGCATCTAAGAATACCTC -3'
(R):5'- CCAGATTGAAGCTAAAATTGGGATC -3'
Posted On 2018-09-12