Incidental Mutation 'IGL00825:Tbl1xr1'
| ID |
14390 |
| 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 # |
IGL00825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 22243950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000200793]
[ENSMUST00000200943]
[ENSMUST00000201509]
[ENSMUST00000202747]
[ENSMUST00000202356]
|
| AlphaFold |
Q8BHJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063988
AA Change: G75C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 damaging
Transcript: ENSMUST00000192328
AA Change: G75C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 damaging
Transcript: ENSMUST00000193734
AA Change: G75C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 damaging
Transcript: ENSMUST00000200793
AA Change: G75C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144138
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 damaging
Transcript: ENSMUST00000201509
AA Change: G75C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 |
noncoding transcript
Transcript: ENSMUST00000202149
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202747
AA Change: G75C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: G75C
| 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 null
Transcript: ENSMUST00000202356
|
| SMART Domains |
Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
4 |
36 |
1.7e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202647
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
C |
T |
18: 10,704,657 (GRCm39) |
V129M |
probably benign |
Het |
| Casp8 |
G |
A |
1: 58,868,165 (GRCm39) |
S202N |
probably benign |
Het |
| Cimap1c |
A |
G |
9: 56,758,975 (GRCm39) |
I60T |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,957,144 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,263,811 (GRCm39) |
Y2098H |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,748,778 (GRCm39) |
K1053E |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,793 (GRCm39) |
K196R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,673,516 (GRCm39) |
Y426F |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,671 (GRCm39) |
T210A |
probably benign |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| P3h2 |
A |
G |
16: 25,811,548 (GRCm39) |
I225T |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,442,006 (GRCm39) |
W337* |
probably null |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,840 (GRCm39) |
V429M |
probably damaging |
Het |
| Pprc1 |
G |
T |
19: 46,059,845 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,587,655 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
T |
A |
3: 138,689,588 (GRCm39) |
I135F |
possibly damaging |
Het |
| Rasa2 |
A |
T |
9: 96,452,772 (GRCm39) |
N371K |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,878,208 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
A |
7: 128,369,333 (GRCm39) |
L686I |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,595,721 (GRCm39) |
V21A |
possibly damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,487,868 (GRCm39) |
N79Y |
probably damaging |
Het |
| Zfp961 |
T |
A |
8: 72,721,888 (GRCm39) |
C134S |
possibly damaging |
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 |
|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation