Incidental Mutation 'IGL02891:Tbcb'
ID |
363200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbcb
|
Ensembl Gene |
ENSMUSG00000006095 |
Gene Name |
tubulin folding cofactor B |
Synonyms |
2410007D12Rik, Ckap1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL02891
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29923554-29931622 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 29932859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006254]
[ENSMUST00000019882]
[ENSMUST00000108192]
[ENSMUST00000108193]
[ENSMUST00000149654]
[ENSMUST00000189482]
|
AlphaFold |
Q9D1E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006254
|
SMART Domains |
Protein: ENSMUSP00000006254 Gene: ENSMUSG00000006095
Domain | Start | End | E-Value | Type |
Pfam:Ubiquitin_2
|
10 |
94 |
9.6e-30 |
PFAM |
low complexity region
|
135 |
152 |
N/A |
INTRINSIC |
CAP_GLY
|
161 |
230 |
4.76e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019882
|
SMART Domains |
Protein: ENSMUSP00000019882 Gene: ENSMUSG00000019738
Domain | Start | End | E-Value | Type |
RPOL9
|
15 |
68 |
1.22e-24 |
SMART |
ZnF_C2C2
|
84 |
125 |
2.18e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108192
|
SMART Domains |
Protein: ENSMUSP00000103827 Gene: ENSMUSG00000019738
Domain | Start | End | E-Value | Type |
RPOL9
|
1 |
46 |
5.45e-13 |
SMART |
ZnF_C2C2
|
62 |
103 |
2.18e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108193
|
SMART Domains |
Protein: ENSMUSP00000103828 Gene: ENSMUSG00000019738
Domain | Start | End | E-Value | Type |
Pfam:RNA_POL_M_15KD
|
14 |
41 |
1.8e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150841
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149654
|
SMART Domains |
Protein: ENSMUSP00000116741 Gene: ENSMUSG00000019738
Domain | Start | End | E-Value | Type |
RPOL9
|
1 |
46 |
5.45e-13 |
SMART |
Blast:ZnF_C2C2
|
62 |
83 |
2e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189482
|
SMART Domains |
Protein: ENSMUSP00000140811 Gene: ENSMUSG00000100512
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
69 |
91 |
3.2e-4 |
SMART |
ZnF_C2H2
|
97 |
119 |
1.4e-6 |
SMART |
ZnF_C2H2
|
125 |
148 |
3.2e-5 |
SMART |
ZnF_C2H2
|
164 |
186 |
5.3e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,500,340 (GRCm39) |
S1284P |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,622,052 (GRCm39) |
V763A |
probably damaging |
Het |
Adhfe1 |
T |
A |
1: 9,628,396 (GRCm39) |
M256K |
probably benign |
Het |
Afg2a |
T |
A |
3: 37,480,341 (GRCm39) |
V130D |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,073,048 (GRCm39) |
S125G |
probably benign |
Het |
Clu |
T |
A |
14: 66,213,433 (GRCm39) |
F273Y |
probably damaging |
Het |
Dgki |
T |
C |
6: 36,890,676 (GRCm39) |
D869G |
probably benign |
Het |
Elapor1 |
C |
T |
3: 108,371,708 (GRCm39) |
R672Q |
probably benign |
Het |
Emx1 |
T |
C |
6: 85,181,067 (GRCm39) |
|
probably benign |
Het |
Ercc2 |
T |
G |
7: 19,127,211 (GRCm39) |
F316C |
probably damaging |
Het |
Fam81a |
A |
G |
9: 70,017,558 (GRCm39) |
L129P |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,005,422 (GRCm39) |
N1940K |
probably damaging |
Het |
Fbxl13 |
G |
A |
5: 21,727,098 (GRCm39) |
|
probably benign |
Het |
Ift70b |
C |
T |
2: 75,767,404 (GRCm39) |
V450M |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,502,544 (GRCm39) |
D879E |
probably damaging |
Het |
Kti12 |
T |
G |
4: 108,705,730 (GRCm39) |
S215A |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Ntn5 |
G |
T |
7: 45,335,648 (GRCm39) |
L26F |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,882,570 (GRCm39) |
N74S |
possibly damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,835 (GRCm39) |
V246E |
probably damaging |
Het |
Or2d3c |
A |
G |
7: 106,526,288 (GRCm39) |
V126A |
probably damaging |
Het |
Phactr4 |
T |
C |
4: 132,114,334 (GRCm39) |
D20G |
probably damaging |
Het |
Ptpn23 |
G |
A |
9: 110,217,088 (GRCm39) |
Q923* |
probably null |
Het |
Rfx6 |
T |
A |
10: 51,599,942 (GRCm39) |
S333T |
possibly damaging |
Het |
Skint10 |
T |
A |
4: 112,586,023 (GRCm39) |
I198F |
probably benign |
Het |
Taf3 |
G |
A |
2: 9,926,038 (GRCm39) |
P647L |
probably damaging |
Het |
Tmem63c |
T |
C |
12: 87,118,042 (GRCm39) |
F216L |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,931,392 (GRCm39) |
|
probably benign |
Het |
Usp34 |
C |
A |
11: 23,437,166 (GRCm39) |
Q217K |
probably benign |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r99 |
G |
A |
17: 19,598,952 (GRCm39) |
W212* |
probably null |
Het |
Zfp687 |
G |
T |
3: 94,919,257 (GRCm39) |
P172T |
probably damaging |
Het |
|
Other mutations in Tbcb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01453:Tbcb
|
APN |
7 |
29,930,627 (GRCm39) |
splice site |
probably null |
|
IGL03123:Tbcb
|
APN |
7 |
29,926,261 (GRCm39) |
splice site |
probably benign |
|
R1778:Tbcb
|
UTSW |
7 |
29,931,037 (GRCm39) |
missense |
probably benign |
0.07 |
R1845:Tbcb
|
UTSW |
7 |
29,923,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4360:Tbcb
|
UTSW |
7 |
29,926,460 (GRCm39) |
missense |
probably benign |
0.01 |
R4579:Tbcb
|
UTSW |
7 |
29,931,019 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8471:Tbcb
|
UTSW |
7 |
29,931,100 (GRCm39) |
missense |
probably benign |
0.00 |
R8535:Tbcb
|
UTSW |
7 |
29,926,421 (GRCm39) |
missense |
probably benign |
0.01 |
R9562:Tbcb
|
UTSW |
7 |
29,930,549 (GRCm39) |
critical splice donor site |
probably null |
|
R9565:Tbcb
|
UTSW |
7 |
29,930,549 (GRCm39) |
critical splice donor site |
probably null |
|
RF021:Tbcb
|
UTSW |
7 |
29,923,771 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Tbcb
|
UTSW |
7 |
29,926,442 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-12-18 |