Incidental Mutation 'R0629:Tbl1xr1'
ID 57739
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 038818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # R0629 (G1)
Quality Score 223
Status Validated
Chromosome 3
Chromosomal Location 22130816-22270758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22264565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 507 (V507I)
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
AA Change: V507I

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: V507I

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: V507I

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: V507I

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: V507I

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: V507I

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: V59I
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 benign
Transcript: ENSMUST00000202747
AA Change: V507I

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: V507I

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
Meta Mutation Damage Score 0.1812 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I 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
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
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'- CAGCATATTGGCCCGATGTCCTTC -3'
(R):5'- TAGATCCCAGCACTTGGTGAGCAG -3'

Sequencing Primer
(F):5'- GGCCCGATGTCCTTCATCAG -3'
(R):5'- GACTGTCATCTTCAGGGTACAGC -3'
Posted On 2013-07-11