Incidental Mutation 'R6490:Tbl1xr1'
| ID |
522731 |
| 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 |
044622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R6490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
22130816-22270758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22258141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 467
(H467Q)
|
| 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: H467Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067164
Gene: ENSMUSG00000027630
AA Change: H467Q
| 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: H467Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141363
Gene: ENSMUSG00000027630
AA Change: H467Q
| 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: H467Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142184
Gene: ENSMUSG00000027630
AA Change: H467Q
| 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: H19Q
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201509
AA Change: H467Q
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144547
Gene: ENSMUSG00000027630
AA Change: H467Q
| 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: H467Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144436
Gene: ENSMUSG00000027630
AA Change: H467Q
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
G |
8: 122,267,293 (GRCm39) |
K38T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,661 (GRCm39) |
T2803A |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,596,613 (GRCm39) |
D565G |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,262,150 (GRCm39) |
T1067A |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,251,819 (GRCm39) |
Y1921* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,149,757 (GRCm39) |
N1604D |
probably benign |
Het |
| Atxn7 |
A |
T |
14: 14,089,446 (GRCm38) |
R321* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,361,968 (GRCm39) |
I104N |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,747,619 (GRCm39) |
S413P |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,732,073 (GRCm39) |
C2024Y |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,262,448 (GRCm39) |
V1388E |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,876,090 (GRCm39) |
V544M |
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,255,301 (GRCm39) |
T199I |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,952,191 (GRCm39) |
L569* |
probably null |
Het |
| Ctnna2 |
A |
G |
6: 77,120,892 (GRCm39) |
I12T |
probably benign |
Het |
| Dhx37 |
A |
G |
5: 125,496,196 (GRCm39) |
M754T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,395 (GRCm39) |
S249T |
possibly damaging |
Het |
| Ell |
G |
T |
8: 71,025,553 (GRCm39) |
S59I |
probably damaging |
Het |
| Fam89a |
G |
A |
8: 125,467,982 (GRCm39) |
S110F |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,889,834 (GRCm39) |
F278V |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,427,398 (GRCm39) |
I427T |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,832,365 (GRCm39) |
D250G |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,546 (GRCm39) |
V194A |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,360 (GRCm39) |
|
probably null |
Het |
| Gm7995 |
A |
G |
14: 42,133,327 (GRCm39) |
K69R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,822,329 (GRCm39) |
T379A |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,147 (GRCm39) |
A570S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,459,029 (GRCm39) |
I5192V |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,913,844 (GRCm39) |
I65F |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,236,992 (GRCm39) |
T1063K |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,930 (GRCm39) |
V381A |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,953,405 (GRCm39) |
D907G |
probably damaging |
Het |
| Jmjd8 |
T |
A |
17: 26,048,086 (GRCm39) |
V16E |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,387,449 (GRCm39) |
Y374C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,386,165 (GRCm39) |
V891I |
possibly damaging |
Het |
| Kif20a |
C |
A |
18: 34,762,543 (GRCm39) |
T472K |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,711,578 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,347,486 (GRCm39) |
S3070P |
unknown |
Het |
| Mettl21e |
T |
G |
1: 44,249,425 (GRCm39) |
Y77S |
probably damaging |
Het |
| Mlst8 |
G |
T |
17: 24,696,935 (GRCm39) |
D82E |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,617 (GRCm39) |
L67Q |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,750,237 (GRCm39) |
L1192Q |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,882,365 (GRCm39) |
Y520F |
unknown |
Het |
| Naip2 |
A |
T |
13: 100,297,193 (GRCm39) |
W948R |
probably benign |
Het |
| Nlrp9a |
A |
C |
7: 26,250,311 (GRCm39) |
K25N |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,212 (GRCm39) |
C414R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,274,374 (GRCm39) |
V142D |
possibly damaging |
Het |
| Or2aj6 |
C |
T |
16: 19,443,194 (GRCm39) |
V219M |
probably benign |
Het |
| P2ry6 |
T |
C |
7: 100,587,580 (GRCm39) |
T260A |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,771,196 (GRCm39) |
Q87R |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,727,086 (GRCm39) |
R557* |
probably null |
Het |
| Rgs13 |
G |
T |
1: 144,016,576 (GRCm39) |
H56N |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,189,111 (GRCm39) |
S537G |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,125,138 (GRCm39) |
L2624Q |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,954 (GRCm39) |
T23A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,820,587 (GRCm39) |
S1222P |
possibly damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,759 (GRCm39) |
Q123H |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,463,862 (GRCm39) |
I379N |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,727,003 (GRCm39) |
I277F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,211 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,615,003 (GRCm39) |
V245D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,967,881 (GRCm39) |
M414K |
probably benign |
Het |
| Wrn |
T |
G |
8: 33,809,248 (GRCm39) |
L249F |
probably benign |
Het |
| Zc3h13 |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGT |
14: 75,560,998 (GRCm39) |
|
probably benign |
Het |
| Zfp454 |
T |
C |
11: 50,764,950 (GRCm39) |
N161D |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,183,586 (GRCm39) |
G60R |
probably benign |
Het |
| Zfp623 |
T |
A |
15: 75,820,308 (GRCm39) |
H421Q |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,916,606 (GRCm39) |
|
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 |
|
|
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 |
|
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'- CTCTTAGGATGGGCAGAATGTG -3'
(R):5'- TTTCAGTCAGTGTTGATTCAGC -3'
Sequencing Primer
(F):5'- GGCCAAGAGAGTATTTGATTGC -3'
(R):5'- GTGTTGATTCAGCTATAAAATGCCCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation