Incidental Mutation 'IGL03117:Tbl1xr1'
| ID |
419467 |
| 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 # |
IGL03117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 22257323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 395
(Y395*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000201509]
[ENSMUST00000202747]
|
| AlphaFold |
Q8BHJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063988
AA Change: Y395*
|
| SMART Domains |
Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: Y395*
| 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
AA Change: Y395*
|
| SMART Domains |
Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: Y395*
| 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
AA Change: Y395*
|
| SMART Domains |
Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: Y395*
| 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: ENSMUST00000201467
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201509
AA Change: Y395*
|
| SMART Domains |
Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: Y395*
| 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 null
Transcript: ENSMUST00000202747
AA Change: Y395*
|
| SMART Domains |
Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: Y395*
| 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 |
|
| 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 |
|---|
| Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
| Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
| Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
| Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
| Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
| Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
| Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
| Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
| Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
| Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
| Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
| Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
| Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
| Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
| Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
| Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
| Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
| Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation