Incidental Mutation 'R3818:Ttl'
| ID |
274769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttl
|
| Ensembl Gene |
ENSMUSG00000027394 |
| Gene Name |
tubulin tyrosine ligase |
| Synonyms |
2700049H19Rik, 2410003M22Rik |
| MMRRC Submission |
040772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128907867-128938203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128934914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 358
(V358A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035812]
|
| AlphaFold |
P38585 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035812
AA Change: V358A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: V358A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
54 |
367 |
1.2e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144120
|
| SMART Domains |
Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
199 |
2.3e-64 |
PFAM |
|
| Meta Mutation Damage Score |
0.8784 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, impaired breathing, and fail to form the internal capsule in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
| Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
| Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
| Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
| Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
| Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
| Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Ttl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02742:Ttl
|
APN |
2 |
128,908,213 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02970:Ttl
|
APN |
2 |
128,917,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0363:Ttl
|
UTSW |
2 |
128,917,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2290:Ttl
|
UTSW |
2 |
128,923,190 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4345:Ttl
|
UTSW |
2 |
128,917,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Ttl
|
UTSW |
2 |
128,923,977 (GRCm39) |
missense |
probably benign |
|
|
R4866:Ttl
|
UTSW |
2 |
128,923,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Ttl
|
UTSW |
2 |
128,910,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Ttl
|
UTSW |
2 |
128,917,961 (GRCm39) |
missense |
probably benign |
|
|
R5941:Ttl
|
UTSW |
2 |
128,917,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6287:Ttl
|
UTSW |
2 |
128,931,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Ttl
|
UTSW |
2 |
128,923,262 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6821:Ttl
|
UTSW |
2 |
128,910,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Ttl
|
UTSW |
2 |
128,923,992 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8273:Ttl
|
UTSW |
2 |
128,910,853 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8354:Ttl
|
UTSW |
2 |
128,908,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Ttl
|
UTSW |
2 |
128,923,163 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8454:Ttl
|
UTSW |
2 |
128,908,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Ttl
|
UTSW |
2 |
128,910,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGTGCAGAGCCTCTTG -3'
(R):5'- TTCAGAGAAGTGCTGGGCTC -3'
Sequencing Primer
(F):5'- TGGGTACTTTATTCACAGAGACGAG -3'
(R):5'- GCTTCCCAAGGTCTCCACAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation