Incidental Mutation 'IGL03336:Tbcel'
ID |
417050 |
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: 0.151)
|
Stock # |
IGL03336
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42323612-42383534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42350427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
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: T269A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000067882 Gene: ENSMUSG00000037287 AA Change: T269A
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: T287A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000065125 Gene: ENSMUSG00000037287 AA Change: T287A
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: T269A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114721 Gene: ENSMUSG00000037287 AA Change: T269A
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: T269A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121164 Gene: ENSMUSG00000037287 AA Change: T269A
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: T269A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000116616 Gene: ENSMUSG00000037287 AA Change: T269A
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
Other mutations in Tbcel |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00555:Tbcel
|
APN |
9 |
42,354,333 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
2016-08-02 |