Incidental Mutation 'IGL03027:Tbl3'
| ID |
408253 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbl3
|
| Ensembl Gene |
ENSMUSG00000040688 |
| Gene Name |
transducin (beta)-like 3 |
| Synonyms |
9430070M15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL03027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24919627-24926627 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 24920167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019464]
[ENSMUST00000126319]
|
| AlphaFold |
Q8C4J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019464
|
| SMART Domains |
Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
6 |
122 |
1.36e-2 |
SMART |
|
SH3
|
160 |
218 |
1.55e0 |
SMART |
|
SH3
|
234 |
289 |
1.8e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124864
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126319
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
54 |
94 |
3.08e0 |
SMART |
|
WD40
|
97 |
137 |
2.38e-6 |
SMART |
|
WD40
|
140 |
181 |
3.85e-1 |
SMART |
|
WD40
|
184 |
223 |
6.94e-8 |
SMART |
|
WD40
|
237 |
275 |
7.36e1 |
SMART |
|
WD40
|
278 |
320 |
3.07e1 |
SMART |
|
WD40
|
323 |
363 |
1.78e0 |
SMART |
|
WD40
|
365 |
404 |
1.17e-5 |
SMART |
|
WD40
|
410 |
450 |
8.16e-5 |
SMART |
|
WD40
|
468 |
507 |
5.18e-7 |
SMART |
|
WD40
|
510 |
549 |
8.1e-9 |
SMART |
|
WD40
|
552 |
591 |
8.55e-8 |
SMART |
|
WD40
|
594 |
633 |
2.93e-6 |
SMART |
|
low complexity region
|
637 |
650 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
654 |
788 |
3.7e-43 |
PFAM |
|
low complexity region
|
792 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126342
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130633
|
| SMART Domains |
Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
8.75e-5 |
SMART |
|
WD40
|
41 |
80 |
8.1e-9 |
SMART |
|
WD40
|
90 |
129 |
9.52e-6 |
SMART |
|
WD40
|
132 |
171 |
2.93e-6 |
SMART |
|
low complexity region
|
175 |
188 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
192 |
299 |
1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
| Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,623,157 (GRCm39) |
I423K |
probably damaging |
Het |
| Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
| Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
| Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
| Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
| Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
| Gpt |
C |
T |
15: 76,582,289 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
| Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
| Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
| Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
| Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
| Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
| Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
| Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
| Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
| Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
| Vars1 |
G |
T |
17: 35,232,663 (GRCm39) |
M862I |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,188,824 (GRCm39) |
A720V |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
probably damaging |
Het |
|
| Other mutations in Tbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Tbl3
|
APN |
17 |
24,924,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Tbl3
|
APN |
17 |
24,920,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL01601:Tbl3
|
APN |
17 |
24,921,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Tbl3
|
APN |
17 |
24,923,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Tbl3
|
APN |
17 |
24,923,106 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Tbl3
|
UTSW |
17 |
24,921,518 (GRCm39) |
unclassified |
probably benign |
|
|
R0230:Tbl3
|
UTSW |
17 |
24,920,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Tbl3
|
UTSW |
17 |
24,920,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Tbl3
|
UTSW |
17 |
24,924,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Tbl3
|
UTSW |
17 |
24,920,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1920:Tbl3
|
UTSW |
17 |
24,923,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2513:Tbl3
|
UTSW |
17 |
24,923,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2570:Tbl3
|
UTSW |
17 |
24,922,290 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2851:Tbl3
|
UTSW |
17 |
24,921,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Tbl3
|
UTSW |
17 |
24,921,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Tbl3
|
UTSW |
17 |
24,919,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4019:Tbl3
|
UTSW |
17 |
24,923,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4745:Tbl3
|
UTSW |
17 |
24,924,304 (GRCm39) |
unclassified |
probably benign |
|
|
R5288:Tbl3
|
UTSW |
17 |
24,924,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5605:Tbl3
|
UTSW |
17 |
24,919,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5791:Tbl3
|
UTSW |
17 |
24,923,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6236:Tbl3
|
UTSW |
17 |
24,919,717 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6302:Tbl3
|
UTSW |
17 |
24,923,645 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6938:Tbl3
|
UTSW |
17 |
24,924,187 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7173:Tbl3
|
UTSW |
17 |
24,924,233 (GRCm39) |
missense |
probably benign |
|
|
R7176:Tbl3
|
UTSW |
17 |
24,919,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Tbl3
|
UTSW |
17 |
24,924,265 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7555:Tbl3
|
UTSW |
17 |
24,920,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7732:Tbl3
|
UTSW |
17 |
24,923,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7780:Tbl3
|
UTSW |
17 |
24,921,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Tbl3
|
UTSW |
17 |
24,921,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Tbl3
|
UTSW |
17 |
24,919,890 (GRCm39) |
missense |
probably benign |
|
|
R9634:Tbl3
|
UTSW |
17 |
24,926,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF005:Tbl3
|
UTSW |
17 |
24,921,515 (GRCm39) |
unclassified |
probably benign |
|
|
X0022:Tbl3
|
UTSW |
17 |
24,924,547 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Tbl3
|
UTSW |
17 |
24,921,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation