Incidental Mutation 'R0629:Tbl1xr1'
ID |
57739 |
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 |
038818-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.875)
|
Stock # |
R0629 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22264565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 507
(V507I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000201509]
[ENSMUST00000202747]
|
AlphaFold |
Q8BHJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063988
AA Change: V507I
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000067164 Gene: ENSMUSG00000027630 AA Change: V507I
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: ENSMUST00000192328
AA Change: V507I
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141363 Gene: ENSMUSG00000027630 AA Change: V507I
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: ENSMUST00000193734
AA Change: V507I
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142184 Gene: ENSMUSG00000027630 AA Change: V507I
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 |
unknown
Transcript: ENSMUST00000201467
AA Change: V59I
|
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 benign
Transcript: ENSMUST00000202747
AA Change: V507I
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144436 Gene: ENSMUSG00000027630 AA Change: V507I
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 |
0.1812 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
100% (66/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,818,473 (GRCm39) |
D86V |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,047,403 (GRCm39) |
Q733* |
probably null |
Het |
Adcy10 |
A |
G |
1: 165,370,674 (GRCm39) |
D651G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,067,041 (GRCm39) |
C52S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,209,172 (GRCm39) |
S463P |
probably damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Cacna1f |
G |
A |
X: 7,486,673 (GRCm39) |
S888N |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,369 (GRCm39) |
C2134R |
possibly damaging |
Het |
Cdc37 |
A |
C |
9: 21,052,064 (GRCm39) |
M325R |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,778,000 (GRCm39) |
M762L |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,180,937 (GRCm39) |
V753M |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,604,364 (GRCm39) |
|
probably benign |
Het |
Dscaml1 |
A |
G |
9: 45,632,716 (GRCm39) |
D1194G |
probably damaging |
Het |
Egfr |
G |
A |
11: 16,819,333 (GRCm39) |
G288S |
probably damaging |
Het |
Fbxl17 |
G |
T |
17: 63,778,409 (GRCm39) |
N19K |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,785,796 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,930,536 (GRCm39) |
Y219H |
probably damaging |
Het |
Fuca1 |
T |
C |
4: 135,652,955 (GRCm39) |
V193A |
possibly damaging |
Het |
Gm7461 |
C |
T |
8: 4,727,769 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
Iqch |
A |
T |
9: 63,332,664 (GRCm39) |
D1019E |
probably benign |
Het |
Isyna1 |
A |
G |
8: 71,047,358 (GRCm39) |
Y27C |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,166,216 (GRCm39) |
H105P |
probably benign |
Het |
Kbtbd11 |
C |
T |
8: 15,077,572 (GRCm39) |
P57L |
probably benign |
Het |
Kcns3 |
A |
C |
12: 11,142,559 (GRCm39) |
C47G |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,099,895 (GRCm39) |
|
probably null |
Het |
Lama3 |
A |
T |
18: 12,552,302 (GRCm39) |
H418L |
possibly damaging |
Het |
Lrit3 |
A |
G |
3: 129,581,951 (GRCm39) |
Y679H |
probably damaging |
Het |
Lrrc19 |
T |
A |
4: 94,526,489 (GRCm39) |
D356V |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,781 (GRCm39) |
M997T |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,888,205 (GRCm39) |
H290R |
possibly damaging |
Het |
Mtcl1 |
A |
T |
17: 66,645,137 (GRCm39) |
S1886T |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,613,791 (GRCm39) |
T529A |
possibly damaging |
Het |
Myo7a |
A |
C |
7: 97,734,673 (GRCm39) |
L607R |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,119,783 (GRCm39) |
F180I |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,484 (GRCm39) |
E89K |
unknown |
Het |
Nek2 |
A |
G |
1: 191,563,429 (GRCm39) |
N431S |
probably benign |
Het |
Oprm1 |
A |
T |
10: 6,782,604 (GRCm39) |
|
probably null |
Het |
Or2aj4 |
A |
T |
16: 19,384,730 (GRCm39) |
V301E |
possibly damaging |
Het |
Or5t7 |
T |
A |
2: 86,506,873 (GRCm39) |
H268L |
possibly damaging |
Het |
Oxsr1 |
A |
G |
9: 119,070,850 (GRCm39) |
|
probably benign |
Het |
Pasd1 |
G |
C |
X: 70,982,379 (GRCm39) |
R296P |
possibly damaging |
Het |
Pdgfrb |
G |
A |
18: 61,211,720 (GRCm39) |
|
probably null |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,976,788 (GRCm39) |
Q7R |
probably benign |
Het |
Rab3d |
A |
G |
9: 21,825,982 (GRCm39) |
V144A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,281,467 (GRCm39) |
L167H |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 57,015,200 (GRCm39) |
T301A |
possibly damaging |
Het |
Rasgrf1 |
G |
A |
9: 89,866,322 (GRCm39) |
V587M |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,392,433 (GRCm39) |
|
probably benign |
Het |
Sin3b |
T |
C |
8: 73,480,164 (GRCm39) |
|
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,148,562 (GRCm39) |
S128G |
probably benign |
Het |
Tmem8b |
T |
G |
4: 43,669,896 (GRCm39) |
|
probably null |
Het |
Trak1 |
A |
T |
9: 121,196,233 (GRCm39) |
T22S |
probably benign |
Het |
Trim30d |
A |
G |
7: 104,136,862 (GRCm39) |
I114T |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,658,474 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,489,237 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r210 |
T |
C |
13: 23,012,044 (GRCm39) |
K81E |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,744,299 (GRCm39) |
Y841C |
probably benign |
Het |
Xrcc4 |
A |
G |
13: 90,149,024 (GRCm39) |
|
probably benign |
Het |
Zdhhc22 |
A |
T |
12: 87,035,071 (GRCm39) |
I127N |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,785 (GRCm39) |
L8P |
possibly damaging |
Het |
Zfp664 |
C |
A |
5: 124,962,659 (GRCm39) |
L18I |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCATATTGGCCCGATGTCCTTC -3'
(R):5'- TAGATCCCAGCACTTGGTGAGCAG -3'
Sequencing Primer
(F):5'- GGCCCGATGTCCTTCATCAG -3'
(R):5'- GACTGTCATCTTCAGGGTACAGC -3'
|
Posted On |
2013-07-11 |