Incidental Mutation 'IGL02816:Ttll13'
ID |
360806 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttll13
|
Ensembl Gene |
ENSMUSG00000045467 |
Gene Name |
tubulin tyrosine ligase-like family, member 13 |
Synonyms |
1700111A04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL02816
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
79896124-79910569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 79902842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 170
(C170F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058266]
[ENSMUST00000205270]
|
AlphaFold |
A4Q9F6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058266
AA Change: C201F
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062795 Gene: ENSMUSG00000045467 AA Change: C201F
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.4e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107381
|
SMART Domains |
Protein: ENSMUSP00000103004 Gene: ENSMUSG00000045467
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
Pfam:TTL
|
131 |
427 |
3.5e-90 |
PFAM |
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133958
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205270
AA Change: C170F
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,298,087 (GRCm39) |
C41R |
probably damaging |
Het |
Etfdh |
G |
A |
3: 79,530,112 (GRCm39) |
T52M |
probably damaging |
Het |
Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
Krt25 |
G |
T |
11: 99,208,977 (GRCm39) |
D284E |
probably benign |
Het |
Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
Prph |
A |
G |
15: 98,955,301 (GRCm39) |
M423V |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
Ribc2 |
T |
G |
15: 85,017,106 (GRCm39) |
V48G |
probably damaging |
Het |
Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
Het |
|
Other mutations in Ttll13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Ttll13
|
APN |
7 |
79,909,297 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01289:Ttll13
|
APN |
7 |
79,910,187 (GRCm39) |
missense |
probably benign |
|
IGL02026:Ttll13
|
APN |
7 |
79,910,127 (GRCm39) |
missense |
probably benign |
0.03 |
R0345:Ttll13
|
UTSW |
7 |
79,897,084 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Ttll13
|
UTSW |
7 |
79,910,253 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0491:Ttll13
|
UTSW |
7 |
79,910,098 (GRCm39) |
missense |
probably benign |
|
R1779:Ttll13
|
UTSW |
7 |
79,910,256 (GRCm39) |
missense |
probably benign |
0.33 |
R1983:Ttll13
|
UTSW |
7 |
79,903,364 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2218:Ttll13
|
UTSW |
7 |
79,902,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Ttll13
|
UTSW |
7 |
79,899,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R4496:Ttll13
|
UTSW |
7 |
79,906,667 (GRCm39) |
missense |
probably benign |
0.08 |
R4736:Ttll13
|
UTSW |
7 |
79,898,024 (GRCm39) |
splice site |
probably null |
|
R5330:Ttll13
|
UTSW |
7 |
79,910,257 (GRCm39) |
missense |
probably benign |
0.33 |
R5930:Ttll13
|
UTSW |
7 |
79,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Ttll13
|
UTSW |
7 |
79,904,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6060:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Ttll13
|
UTSW |
7 |
79,909,981 (GRCm39) |
missense |
probably benign |
0.18 |
R6256:Ttll13
|
UTSW |
7 |
79,908,052 (GRCm39) |
missense |
probably benign |
0.00 |
R6501:Ttll13
|
UTSW |
7 |
79,899,924 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6901:Ttll13
|
UTSW |
7 |
79,899,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Ttll13
|
UTSW |
7 |
79,906,778 (GRCm39) |
missense |
probably null |
0.53 |
R7127:Ttll13
|
UTSW |
7 |
79,903,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7217:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Ttll13
|
UTSW |
7 |
79,903,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Ttll13
|
UTSW |
7 |
79,906,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7453:Ttll13
|
UTSW |
7 |
79,910,182 (GRCm39) |
missense |
probably benign |
|
R7579:Ttll13
|
UTSW |
7 |
79,907,981 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Ttll13
|
UTSW |
7 |
79,902,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Ttll13
|
UTSW |
7 |
79,903,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Ttll13
|
UTSW |
7 |
79,905,135 (GRCm39) |
missense |
probably benign |
0.02 |
R8122:Ttll13
|
UTSW |
7 |
79,909,217 (GRCm39) |
missense |
probably benign |
0.16 |
R8739:Ttll13
|
UTSW |
7 |
79,902,923 (GRCm39) |
missense |
probably damaging |
0.98 |
R9124:Ttll13
|
UTSW |
7 |
79,906,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R9154:Ttll13
|
UTSW |
7 |
79,897,182 (GRCm39) |
missense |
probably benign |
|
R9157:Ttll13
|
UTSW |
7 |
79,904,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9572:Ttll13
|
UTSW |
7 |
79,908,008 (GRCm39) |
missense |
probably benign |
0.09 |
Z1189:Ttll13
|
UTSW |
7 |
79,908,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |