Incidental Mutation 'R0654:Tbl1xr1'
| ID |
62422 |
| 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 |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 22258158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 null
Transcript: ENSMUST00000201467
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201467
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGCCAAGAGAGTATTTGATTGCT -3'
(R):5'- GCCAACCAAGTGTGAAGTCACTAAAGA -3'
Sequencing Primer
(F):5'- TTTCCATTTTTTAGTGCATCCTTTG -3'
(R):5'- GGTTAAGTTCACCGTAAGCTTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation