Incidental Mutation 'R3929:Tbl1xr1'
| ID |
308623 |
| 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 |
040824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R3929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 22243932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 69
(D69H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000200793]
[ENSMUST00000200943]
[ENSMUST00000201509]
[ENSMUST00000202356]
[ENSMUST00000202747]
|
| AlphaFold |
Q8BHJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063988
AA Change: D69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: D69H
| 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: D69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: D69H
| 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: D69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: D69H
| 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: ENSMUST00000200793
AA Change: D69H
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144138
Gene: ENSMUSG00000027630
AA Change: D69H
| 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: D69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: D69H
| 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: ENSMUST00000202356
AA Change: D69H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630
AA Change: D69H
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
4 |
36 |
1.7e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202747
AA Change: D69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: D69H
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
C |
3: 152,373,444 (GRCm39) |
L18R |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| C9 |
T |
A |
15: 6,496,939 (GRCm39) |
I212N |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,452 (GRCm39) |
|
probably null |
Het |
| Ccnf |
A |
G |
17: 24,453,356 (GRCm39) |
V361A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dmrta1 |
C |
T |
4: 89,579,681 (GRCm39) |
Q214* |
probably null |
Het |
| E230025N22Rik |
T |
C |
18: 36,824,625 (GRCm39) |
D112G |
probably damaging |
Het |
| Frat1 |
T |
C |
19: 41,819,087 (GRCm39) |
C161R |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,275,857 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,742 (GRCm39) |
D509G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,356,629 (GRCm39) |
V1072A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,520,064 (GRCm39) |
Y2340H |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,820 (GRCm39) |
M154L |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,791 (GRCm39) |
C149Y |
probably benign |
Het |
| Or5be3 |
T |
A |
2: 86,864,428 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or6c2 |
G |
A |
10: 129,362,100 (GRCm39) |
M1I |
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,258,432 (GRCm39) |
I619T |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,868 (GRCm39) |
T71A |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,025,421 (GRCm39) |
N1089S |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Stap2 |
A |
C |
17: 56,310,156 (GRCm39) |
F50V |
probably damaging |
Het |
| Stkld1 |
T |
A |
2: 26,830,059 (GRCm39) |
|
probably null |
Het |
| Tars3 |
A |
G |
7: 65,333,791 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,614,176 (GRCm39) |
I46T |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,587 (GRCm39) |
Y210H |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,870,926 (GRCm39) |
S584P |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCAGCAGGACCTCAGTG -3'
(R):5'- CTCACTTGCGATGGTATGTGC -3'
Sequencing Primer
(F):5'- CAGGACCTCAGTGACAGTTG -3'
(R):5'- GCGATGGTATGTGCTCCATTCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation