Incidental Mutation 'IGL01453:Tbcb'
| ID |
84692 |
| 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 # |
IGL01453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29923554-29931622 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2237 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 29930627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006254]
[ENSMUST00000019882]
[ENSMUST00000108192]
[ENSMUST00000108193]
[ENSMUST00000189482]
[ENSMUST00000149654]
|
| AlphaFold |
Q9D1E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006254
AA Change: D61G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095
AA Change: D61G
| 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: ENSMUST00000141608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169358
|
| Predicted Effect |
probably null
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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
| Armc1 |
T |
C |
3: 19,198,594 (GRCm39) |
N122S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
| Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
| Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
| Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
| Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
| Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,058,714 (GRCm39) |
N56S |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,536,201 (GRCm39) |
D508E |
probably damaging |
Het |
| Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
| Tmprss11f |
C |
A |
5: 86,692,691 (GRCm39) |
G78* |
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tbcb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02891:Tbcb
|
APN |
7 |
29,932,859 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-11-11 |
Incidental Mutation