Incidental Mutation 'R4642:Tbl1xr1'
| ID |
351673 |
| 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 |
041904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R4642 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22242584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 38
(N38I)
|
| 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: N38I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: N38I
| 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: N38I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: N38I
| 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: N38I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: N38I
| 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: ENSMUST00000200793
AA Change: N38I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144138
Gene: ENSMUSG00000027630
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
4 |
36 |
1.7e-8 |
SMART |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200943
AA Change: N38I
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144602
Gene: ENSMUSG00000027630
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
4 |
36 |
1.7e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201509
AA Change: N38I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: N38I
| 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: ENSMUST00000202356
AA Change: N38I
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144301
Gene: ENSMUSG00000027630
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
4 |
36 |
1.7e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202647
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202747
AA Change: N38I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: N38I
| 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 |
|
| Meta Mutation Damage Score |
0.7508 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (46/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,415,982 (GRCm39) |
T387A |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
| Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,672,610 (GRCm39) |
R313H |
probably benign |
Het |
| Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
T |
1: 59,597,273 (GRCm39) |
E434D |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
| Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
| Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
| Ufc1 |
A |
G |
1: 171,117,467 (GRCm39) |
I82T |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
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 |
|
|
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'- TGTCCATTTACACCGTCAAGTG -3'
(R):5'- TTATCCGCTGGTATGAAGACC -3'
Sequencing Primer
(F):5'- CATTTACACCGTCAAGTGATGATATG -3'
(R):5'- TCTGTCTGAACCCATGAAGTCAAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation