Incidental Mutation 'IGL01717:Tbl1xr1'
ID |
104985 |
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 # |
IGL01717
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 22247335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000067164 Gene: ENSMUSG00000027630
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
|
SMART Domains |
Protein: ENSMUSP00000141363 Gene: ENSMUSG00000027630
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
|
SMART Domains |
Protein: ENSMUSP00000142184 Gene: ENSMUSG00000027630
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
|
SMART Domains |
Protein: ENSMUSP00000144547 Gene: ENSMUSG00000027630
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 benign
Transcript: ENSMUST00000202747
|
SMART Domains |
Protein: ENSMUSP00000144436 Gene: ENSMUSG00000027630
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: 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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably 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 |
|
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 |
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 |
2014-01-21 |