Incidental Mutation 'IGL02421:Tbl1xr1'
ID |
292667 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbl1xr1
|
Ensembl Gene |
ENSMUSG00000027630 |
Gene Name |
transducin (beta)-like 1X-linked receptor 1 |
Synonyms |
Ira1, 8030499H02Rik, C230089I12Rik, DC42, A630076E03Rik, TBLR1, C21 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.875)
|
Stock # |
IGL02421
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22257327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 397
(I397F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063988]
[ENSMUST00000192328]
[ENSMUST00000193734]
[ENSMUST00000201509]
[ENSMUST00000202747]
|
AlphaFold |
Q8BHJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063988
AA Change: I397F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067164 Gene: ENSMUSG00000027630 AA Change: I397F
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: I397F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141363 Gene: ENSMUSG00000027630 AA Change: I397F
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: I397F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142184 Gene: ENSMUSG00000027630 AA Change: I397F
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: ENSMUST00000201467
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201509
AA Change: I397F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144547 Gene: ENSMUSG00000027630 AA Change: I397F
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 damaging
Transcript: ENSMUST00000202747
AA Change: I397F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144436 Gene: ENSMUSG00000027630 AA Change: I397F
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,672 (GRCm39) |
F117S |
probably damaging |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,361,939 (GRCm39) |
T1394A |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,380 (GRCm39) |
N671S |
probably damaging |
Het |
Akap13 |
A |
T |
7: 75,367,554 (GRCm39) |
N1815I |
possibly damaging |
Het |
Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
Ap1g2 |
G |
A |
14: 55,339,859 (GRCm39) |
A440V |
probably damaging |
Het |
Bmt2 |
G |
T |
6: 13,628,841 (GRCm39) |
Q281K |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,717,662 (GRCm39) |
F2243L |
probably damaging |
Het |
Cenpb |
G |
A |
2: 131,021,601 (GRCm39) |
R66C |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,694,541 (GRCm39) |
H1121L |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,306,148 (GRCm39) |
Y344C |
probably damaging |
Het |
Cspg5 |
T |
A |
9: 110,076,460 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,150,637 (GRCm39) |
N374D |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,550,215 (GRCm39) |
V3368A |
possibly damaging |
Het |
Eml4 |
T |
C |
17: 83,785,321 (GRCm39) |
S829P |
probably benign |
Het |
Got2-ps1 |
T |
C |
5: 138,362,811 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
T |
C |
10: 93,339,335 (GRCm39) |
C475R |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,850,136 (GRCm39) |
P806S |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,806 (GRCm39) |
T88S |
probably benign |
Het |
Napsa |
A |
G |
7: 44,234,479 (GRCm39) |
H237R |
probably damaging |
Het |
Opn5 |
C |
T |
17: 42,907,446 (GRCm39) |
|
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,256,017 (GRCm39) |
I174T |
probably damaging |
Het |
Or4c110 |
T |
C |
2: 88,831,688 (GRCm39) |
|
probably null |
Het |
Or51f2 |
T |
C |
7: 102,526,966 (GRCm39) |
I213T |
probably damaging |
Het |
Or56b2 |
A |
G |
7: 104,337,740 (GRCm39) |
N173D |
probably benign |
Het |
Pira12 |
T |
C |
7: 3,899,994 (GRCm39) |
N203D |
possibly damaging |
Het |
Polb |
C |
T |
8: 23,130,389 (GRCm39) |
G179D |
probably damaging |
Het |
Primpol |
G |
T |
8: 47,060,830 (GRCm39) |
|
probably benign |
Het |
Prom2 |
T |
A |
2: 127,373,802 (GRCm39) |
|
probably null |
Het |
Psmb10 |
A |
G |
8: 106,664,124 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
G |
10: 58,316,376 (GRCm39) |
S2365R |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,694,187 (GRCm39) |
|
probably benign |
Het |
Slc25a34 |
A |
G |
4: 141,348,753 (GRCm39) |
V237A |
probably benign |
Het |
Slc39a2 |
A |
T |
14: 52,131,329 (GRCm39) |
T25S |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,550,535 (GRCm39) |
C423R |
probably damaging |
Het |
Stt3b |
G |
A |
9: 115,080,920 (GRCm39) |
|
probably benign |
Het |
Tie1 |
A |
G |
4: 118,343,591 (GRCm39) |
V117A |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,271,952 (GRCm39) |
F1035L |
probably benign |
Het |
Trhde |
T |
A |
10: 114,248,366 (GRCm39) |
K944N |
probably damaging |
Het |
Vmn1r54 |
G |
A |
6: 90,246,133 (GRCm39) |
A16T |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,415,414 (GRCm39) |
N801K |
probably damaging |
Het |
Xylt2 |
A |
G |
11: 94,558,588 (GRCm39) |
Y523H |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,902,000 (GRCm39) |
R5G |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |