Incidental Mutation 'R6287:Ttl'
| ID |
508261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttl
|
| Ensembl Gene |
ENSMUSG00000027394 |
| Gene Name |
tubulin tyrosine ligase |
| Synonyms |
2700049H19Rik, 2410003M22Rik |
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128907867-128938203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128931041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 335
(A335T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035812]
|
| AlphaFold |
P38585 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035812
AA Change: A335T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: A335T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
54 |
367 |
1.2e-72 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144120
AA Change: A193T
|
| SMART Domains |
Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
AA Change: A193T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
199 |
2.3e-64 |
PFAM |
|
| Meta Mutation Damage Score |
0.4424 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| 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 |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
probably damaging |
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 |
|
R3818:Ttl
|
UTSW |
2 |
128,934,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCACACTTGGTATAGGATCTTCTG -3'
(R):5'- GAACCACAGGGAAATGGCTC -3'
Sequencing Primer
(F):5'- GATCTTCTGATCGGCATAGCC -3'
(R):5'- CAGGGAAATGGCTCAGCTAAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation