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)
|
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
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: ENSMUST00000192328
AA Change: T253A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141363 Gene: ENSMUSG00000027630 AA Change: T253A
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: ENSMUST00000193734
AA Change: T253A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000142184 Gene: ENSMUSG00000027630 AA Change: T253A
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: ENSMUST00000200793
|
SMART Domains |
Protein: ENSMUSP00000144138 Gene: ENSMUSG00000027630
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
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 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
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 |
noncoding transcript
Transcript: ENSMUST00000202149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202647
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202356
|
SMART Domains |
Protein: ENSMUSP00000144301 Gene: ENSMUSG00000027630
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |