Incidental Mutation 'R4345:Ttl'
| ID |
386412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttl
|
| Ensembl Gene |
ENSMUSG00000027394 |
| Gene Name |
tubulin tyrosine ligase |
| Synonyms |
2700049H19Rik, 2410003M22Rik |
| MMRRC Submission |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4345 (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 128917778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035812]
|
| AlphaFold |
P38585 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035812
AA Change: L80P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: L80P
| 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 |
0.6177 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (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 |
|
R3818:Ttl
|
UTSW |
2 |
128,934,914 (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'- AGGACATGGCTTTGGAATCAC -3'
(R):5'- TTGCAATCCAAACGTTGCC -3'
Sequencing Primer
(F):5'- TGGCTTTGGAATCACACCAG -3'
(R):5'- AAACGTTGCCCTCCCCG -3'
|
| Posted On |
2016-05-26 |
Incidental Mutation