Incidental Mutation 'R5361:Tbl1xr1'
ID |
422794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbl1xr1
|
Ensembl Gene |
ENSMUSG00000027630 |
Gene Name |
transducin (beta)-like 1X-linked receptor 1 |
Synonyms |
Ira1, 8030499H02Rik, C230089I12Rik, DC42, A630076E03Rik, TBLR1, C21 |
MMRRC Submission |
042940-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.875)
|
Stock # |
R5361 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22246233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 251
(I251K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000200793]
[ENSMUST00000200943]
[ENSMUST00000201509]
[ENSMUST00000202747]
[ENSMUST00000202356]
|
AlphaFold |
Q8BHJ5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063988
AA Change: I251K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067164 Gene: ENSMUSG00000027630 AA Change: I251K
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 |
possibly damaging
Transcript: ENSMUST00000192328
AA Change: I251K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141363 Gene: ENSMUSG00000027630 AA Change: I251K
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 |
possibly damaging
Transcript: ENSMUST00000193734
AA Change: I251K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142184 Gene: ENSMUSG00000027630 AA Change: I251K
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 damaging
Transcript: ENSMUST00000201509
AA Change: I251K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144547 Gene: ENSMUSG00000027630 AA Change: I251K
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 |
possibly damaging
Transcript: ENSMUST00000202747
AA Change: I251K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144436 Gene: ENSMUSG00000027630 AA Change: I251K
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
A |
9: 57,164,468 (GRCm39) |
K635N |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,992,705 (GRCm39) |
M4663K |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,960,212 (GRCm39) |
T280S |
probably benign |
Het |
Ccdc166 |
A |
G |
15: 75,852,869 (GRCm39) |
V366A |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,493,044 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,792,292 (GRCm39) |
T1281A |
unknown |
Het |
Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
Dbndd1 |
T |
A |
8: 124,233,484 (GRCm39) |
D127V |
probably damaging |
Het |
Ddx20 |
T |
A |
3: 105,590,825 (GRCm39) |
E197V |
probably damaging |
Het |
Dennd10 |
A |
G |
19: 60,814,324 (GRCm39) |
M96V |
probably benign |
Het |
Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,945,643 (GRCm39) |
V24A |
probably benign |
Het |
Dop1b |
C |
A |
16: 93,567,392 (GRCm39) |
A1273E |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,416,703 (GRCm39) |
V868A |
possibly damaging |
Het |
Dtx4 |
A |
G |
19: 12,462,626 (GRCm39) |
|
probably null |
Het |
Elovl4 |
A |
G |
9: 83,672,154 (GRCm39) |
L55P |
possibly damaging |
Het |
Fbxo40 |
T |
A |
16: 36,789,914 (GRCm39) |
T399S |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm14399 |
T |
C |
2: 174,973,371 (GRCm39) |
E96G |
probably damaging |
Het |
Gm14496 |
T |
G |
2: 181,642,147 (GRCm39) |
V606G |
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,826,087 (GRCm39) |
E768G |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,723,704 (GRCm39) |
T665S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,592,301 (GRCm39) |
|
probably benign |
Het |
Htt |
T |
C |
5: 35,064,928 (GRCm39) |
V3047A |
possibly damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,676,011 (GRCm39) |
T107S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,101,272 (GRCm39) |
T899S |
probably benign |
Het |
Lhcgr |
T |
A |
17: 89,050,281 (GRCm39) |
Y415F |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Med4 |
C |
A |
14: 73,747,553 (GRCm39) |
S18* |
probably null |
Het |
Nefl |
T |
C |
14: 68,322,088 (GRCm39) |
V226A |
probably damaging |
Het |
Nploc4 |
T |
A |
11: 120,275,389 (GRCm39) |
N516Y |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,501 (GRCm39) |
V270A |
probably benign |
Het |
Or6c66 |
A |
T |
10: 129,461,601 (GRCm39) |
F110I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdha3 |
T |
G |
18: 37,079,752 (GRCm39) |
L165V |
possibly damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,099 (GRCm39) |
V415D |
probably damaging |
Het |
Pcdhga10 |
T |
C |
18: 37,880,503 (GRCm39) |
I88T |
probably damaging |
Het |
Pigyl |
T |
A |
9: 22,069,292 (GRCm39) |
M1K |
probably null |
Het |
Prr27 |
T |
C |
5: 87,991,203 (GRCm39) |
S272P |
probably damaging |
Het |
Prss3 |
C |
T |
6: 41,350,780 (GRCm39) |
D237N |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,958,078 (GRCm39) |
D150G |
probably damaging |
Het |
Robo4 |
T |
A |
9: 37,324,674 (GRCm39) |
D909E |
probably benign |
Het |
Serpinb3c |
A |
T |
1: 107,204,661 (GRCm39) |
Y28* |
probably null |
Het |
Slc26a3 |
T |
C |
12: 31,500,980 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
A |
T |
6: 114,279,493 (GRCm39) |
I91F |
probably benign |
Het |
Smcr8 |
T |
G |
11: 60,669,118 (GRCm39) |
Y89D |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,443,247 (GRCm39) |
M1898K |
probably benign |
Het |
Thbs4 |
C |
T |
13: 92,913,501 (GRCm39) |
D140N |
probably benign |
Het |
Tmbim6 |
G |
A |
15: 99,303,633 (GRCm39) |
A108T |
probably benign |
Het |
Trim10 |
T |
G |
17: 37,186,328 (GRCm39) |
L301R |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,671,161 (GRCm39) |
I607N |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,995,929 (GRCm39) |
I240F |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,436,765 (GRCm39) |
I873F |
possibly damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,267 (GRCm39) |
S1475N |
probably damaging |
Het |
Zfp712 |
A |
G |
13: 67,189,079 (GRCm39) |
S483P |
possibly damaging |
Het |
Zswim7 |
A |
T |
11: 62,158,373 (GRCm39) |
H122Q |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAACACCGCCTTCATTAGGG -3'
(R):5'- CGCCAGCACTTAGGATGAAATTTC -3'
Sequencing Primer
(F):5'- GTGGGGGTTTGCCAGCC -3'
(R):5'- CAGCACTTAGGATGAAATTTCCTTTC -3'
|
Posted On |
2016-08-04 |