Incidental Mutation 'IGL01622:Tbl1xr1'
ID 278625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbl1xr1
Ensembl Gene ENSMUSG00000027630
Gene Name transducin (beta)-like 1X-linked receptor 1
Synonyms Ira1, 8030499H02Rik, C230089I12Rik, DC42, A630076E03Rik, TBLR1, C21
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # IGL01622
Quality Score
Status
Chromosome 3
Chromosomal Location 22130816-22270758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22246238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 253 (T253A)
Ref Sequence ENSEMBL: ENSMUSP00000144436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063988] [ENSMUST00000192328] [ENSMUST00000193734] [ENSMUST00000200793] [ENSMUST00000200943] [ENSMUST00000201509] [ENSMUST00000202747] [ENSMUST00000202356]
AlphaFold Q8BHJ5
Predicted Effect probably benign
Transcript: ENSMUST00000063988
AA Change: T253A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: T253A

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: T253A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: T253A

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: T253A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: T253A

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 probably benign
Transcript: ENSMUST00000201509
AA Change: T253A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: T253A

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: T253A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: T253A

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 noncoding transcript
Transcript: ENSMUST00000202149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202647
Predicted Effect probably benign
Transcript: ENSMUST00000202356
SMART Domains Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630

DomainStartEndE-ValueType
LisH 4 36 1.7e-8 SMART
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign 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
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
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
Posted On 2015-04-16