Incidental Mutation 'IGL00465:Tbl1xr1'
| ID |
332153 |
| 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 # |
IGL00465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 22246432 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 null
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 null
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 null
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 null
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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,046,054 (GRCm39) |
D279V |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
| Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
| Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
| Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
G |
14: 62,640,649 (GRCm39) |
Q752P |
probably benign |
Het |
| Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
| Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
| Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
| Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
| Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
| Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
| Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
| Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,457,729 (GRCm39) |
T33S |
probably benign |
Het |
| Shroom1 |
T |
A |
11: 53,354,921 (GRCm39) |
D280E |
probably benign |
Het |
| Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
T |
C |
2: 130,103,224 (GRCm39) |
S787P |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
| Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
| Other mutations in Tbl1xr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2015-08-05 |
Incidental Mutation