Incidental Mutation 'IGL00555:Tbcel'
ID |
332596 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbcel
|
Ensembl Gene |
ENSMUSG00000037287 |
Gene Name |
tubulin folding cofactor E-like |
Synonyms |
E130107N23Rik, Lrrc35 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
IGL00555
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42323612-42383534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 42354333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 165
(T165K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066148]
[ENSMUST00000066179]
[ENSMUST00000125995]
[ENSMUST00000128959]
[ENSMUST00000138506]
|
AlphaFold |
Q8C5W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066148
AA Change: T165K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000067882 Gene: ENSMUSG00000037287 AA Change: T165K
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066179
AA Change: T183K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000065125 Gene: ENSMUSG00000037287 AA Change: T183K
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
91 |
121 |
9.76e-6 |
PROSPERO |
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
low complexity region
|
165 |
178 |
N/A |
INTRINSIC |
internal_repeat_1
|
191 |
221 |
9.76e-6 |
PROSPERO |
Pfam:Ubiquitin_2
|
362 |
442 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125995
AA Change: T165K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000114721 Gene: ENSMUSG00000037287 AA Change: T165K
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128959
AA Change: T165K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000121164 Gene: ENSMUSG00000037287 AA Change: T165K
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138506
AA Change: T165K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000116616 Gene: ENSMUSG00000037287 AA Change: T165K
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196448
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
G |
12: 21,378,110 (GRCm39) |
V692A |
probably damaging |
Het |
Ankrd12 |
A |
G |
17: 66,291,971 (GRCm39) |
V1154A |
probably benign |
Het |
Asnsd1 |
T |
C |
1: 53,385,787 (GRCm39) |
N529S |
probably damaging |
Het |
C1ra |
T |
C |
6: 124,499,250 (GRCm39) |
F479L |
probably benign |
Het |
Cdh9 |
T |
C |
15: 16,823,492 (GRCm39) |
F158S |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,897,535 (GRCm39) |
M194K |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,794,097 (GRCm39) |
I158F |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,823,317 (GRCm39) |
|
probably null |
Het |
Ngf |
A |
G |
3: 102,427,788 (GRCm39) |
H179R |
probably damaging |
Het |
Plbd2 |
A |
T |
5: 120,623,875 (GRCm39) |
M549K |
possibly damaging |
Het |
Shc3 |
A |
G |
13: 51,615,379 (GRCm39) |
S193P |
probably damaging |
Het |
Tat |
A |
G |
8: 110,725,417 (GRCm39) |
T421A |
probably benign |
Het |
Tesl2 |
A |
G |
X: 23,824,191 (GRCm39) |
I328T |
probably benign |
Het |
Trim44 |
A |
G |
2: 102,134,824 (GRCm39) |
*346R |
probably null |
Het |
Uba6 |
A |
T |
5: 86,267,266 (GRCm39) |
F921I |
possibly damaging |
Het |
|
Other mutations in Tbcel |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Tbcel
|
APN |
9 |
42,355,817 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02223:Tbcel
|
APN |
9 |
42,363,014 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03336:Tbcel
|
APN |
9 |
42,350,427 (GRCm39) |
missense |
probably benign |
0.17 |
R0346:Tbcel
|
UTSW |
9 |
42,348,539 (GRCm39) |
splice site |
probably benign |
|
R0415:Tbcel
|
UTSW |
9 |
42,355,796 (GRCm39) |
missense |
probably benign |
0.43 |
R0849:Tbcel
|
UTSW |
9 |
42,348,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Tbcel
|
UTSW |
9 |
42,362,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R1370:Tbcel
|
UTSW |
9 |
42,361,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Tbcel
|
UTSW |
9 |
42,372,589 (GRCm39) |
intron |
probably benign |
|
R1995:Tbcel
|
UTSW |
9 |
42,362,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:Tbcel
|
UTSW |
9 |
42,327,248 (GRCm39) |
missense |
probably damaging |
0.99 |
R3618:Tbcel
|
UTSW |
9 |
42,372,591 (GRCm39) |
intron |
probably benign |
|
R4681:Tbcel
|
UTSW |
9 |
42,361,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R5008:Tbcel
|
UTSW |
9 |
42,327,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Tbcel
|
UTSW |
9 |
42,363,041 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R5838:Tbcel
|
UTSW |
9 |
42,327,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R5976:Tbcel
|
UTSW |
9 |
42,350,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6993:Tbcel
|
UTSW |
9 |
42,327,413 (GRCm39) |
nonsense |
probably null |
|
R8480:Tbcel
|
UTSW |
9 |
42,375,169 (GRCm39) |
splice site |
probably null |
|
S24628:Tbcel
|
UTSW |
9 |
42,355,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2015-08-05 |