Incidental Mutation 'R4536:Ttll2'
ID |
333346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll2
|
Ensembl Gene |
ENSMUSG00000079722 |
Gene Name |
tubulin tyrosine ligase-like family, member 2 |
Synonyms |
EG625850 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R4536 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
7618284-7620095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 7619120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 269
(I269N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115747]
[ENSMUST00000231397]
|
AlphaFold |
A4Q9E4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115747
AA Change: I269N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000111413 Gene: ENSMUSG00000079722 AA Change: I269N
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
91 |
383 |
1.2e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231397
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
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 |
|
R4389: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 |
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'- AAAAGCCACGGTTTCAGGTTATC -3'
(R):5'- AGGTACAAATGCGACCTCCG -3'
Sequencing Primer
(F):5'- CGGTTTCAGGTTATCATCAATAAGG -3'
(R):5'- GCATCTATGTCTGCATCACTGG -3'
|
Posted On |
2015-08-18 |