Incidental Mutation 'R4389:Ttll2'
ID |
326345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll2
|
Ensembl Gene |
ENSMUSG00000079722 |
Gene Name |
tubulin tyrosine ligase-like family, member 2 |
Synonyms |
EG625850 |
MMRRC Submission |
041126-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R4389 (G1)
|
Quality Score |
154 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
7618284-7620095 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 7618599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 443
(R443*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115747]
[ENSMUST00000231397]
|
AlphaFold |
A4Q9E4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000115747
AA Change: R443*
|
SMART Domains |
Protein: ENSMUSP00000111413 Gene: ENSMUSG00000079722 AA Change: R443*
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
91 |
383 |
1.2e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231397
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
Validation Efficiency |
87% (26/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,247,878 (GRCm39) |
T2542P |
probably damaging |
Het |
Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,803,362 (GRCm39) |
K1560M |
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,415,987 (GRCm39) |
D212G |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,296,865 (GRCm39) |
L1285* |
probably null |
Het |
Gzma |
G |
T |
13: 113,234,922 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
C |
16: 22,843,618 (GRCm39) |
I120M |
possibly damaging |
Het |
Lhx3 |
C |
T |
2: 26,091,102 (GRCm39) |
|
probably benign |
Het |
Mtfr1l |
T |
C |
4: 134,259,953 (GRCm39) |
|
probably benign |
Het |
Ndufb4 |
T |
C |
16: 37,468,032 (GRCm39) |
N126S |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
Nptn |
A |
G |
9: 58,551,055 (GRCm39) |
K361E |
probably damaging |
Het |
Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
Orc2 |
T |
C |
1: 58,514,020 (GRCm39) |
D332G |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 37,087,842 (GRCm39) |
V675A |
probably benign |
Het |
Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
Slc13a1 |
A |
T |
6: 24,092,397 (GRCm39) |
|
probably null |
Het |
Tec |
A |
G |
5: 72,939,350 (GRCm39) |
Y222H |
probably benign |
Het |
Vmn1r66 |
A |
T |
7: 10,008,715 (GRCm39) |
L106* |
probably null |
Het |
Zfp189 |
A |
G |
4: 49,529,934 (GRCm39) |
R346G |
probably damaging |
Het |
|
Other mutations in Ttll2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02071:Ttll2
|
APN |
17 |
7,619,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Ttll2
|
APN |
17 |
7,618,779 (GRCm39) |
missense |
probably benign |
0.05 |
R1922:Ttll2
|
UTSW |
17 |
7,619,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R2237:Ttll2
|
UTSW |
17 |
7,619,522 (GRCm39) |
missense |
probably benign |
0.03 |
R2892:Ttll2
|
UTSW |
17 |
7,620,098 (GRCm39) |
splice site |
probably null |
|
R4388:Ttll2
|
UTSW |
17 |
7,618,599 (GRCm39) |
nonsense |
probably null |
|
R4534:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
R4535:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
R4536:Ttll2
|
UTSW |
17 |
7,619,120 (GRCm39) |
missense |
probably benign |
0.02 |
R4868:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
R4870:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
R4871:Ttll2
|
UTSW |
17 |
7,618,998 (GRCm39) |
missense |
probably benign |
0.07 |
R5990:Ttll2
|
UTSW |
17 |
7,619,766 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6145:Ttll2
|
UTSW |
17 |
7,619,031 (GRCm39) |
missense |
probably benign |
0.08 |
R6332:Ttll2
|
UTSW |
17 |
7,619,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7893:Ttll2
|
UTSW |
17 |
7,619,490 (GRCm39) |
missense |
probably benign |
0.15 |
R8250:Ttll2
|
UTSW |
17 |
7,618,767 (GRCm39) |
missense |
probably benign |
0.00 |
R8673:Ttll2
|
UTSW |
17 |
7,619,340 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9036:Ttll2
|
UTSW |
17 |
7,619,054 (GRCm39) |
missense |
probably benign |
0.01 |
R9429:Ttll2
|
UTSW |
17 |
7,620,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R9455:Ttll2
|
UTSW |
17 |
7,619,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9773:Ttll2
|
UTSW |
17 |
7,618,676 (GRCm39) |
missense |
probably benign |
0.17 |
R9784:Ttll2
|
UTSW |
17 |
7,618,707 (GRCm39) |
missense |
probably benign |
0.01 |
RF010:Ttll2
|
UTSW |
17 |
7,618,737 (GRCm39) |
missense |
probably benign |
0.05 |
Z1088:Ttll2
|
UTSW |
17 |
7,618,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCTGAAAGTAGCCTTGTTG -3'
(R):5'- TTCTCCAGGAAACTCCGTGG -3'
Sequencing Primer
(F):5'- CTCTGAAAGTAGCCTTGTTGAACGG -3'
(R):5'- AGGAAACTCCGTGGTCTCC -3'
|
Posted On |
2015-07-06 |