Incidental Mutation 'IGL02970:Ttl'
ID 365787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttl
Ensembl Gene ENSMUSG00000027394
Gene Name tubulin tyrosine ligase
Synonyms 2700049H19Rik, 2410003M22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02970
Quality Score
Status
Chromosome 2
Chromosomal Location 128907867-128938203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128917990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 151 (S151P)
Ref Sequence ENSEMBL: ENSMUSP00000046883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035812]
AlphaFold P38585
Predicted Effect probably damaging
Transcript: ENSMUST00000035812
AA Change: S151P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: S151P

DomainStartEndE-ValueType
Pfam:TTL 54 367 1.2e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144120
AA Change: S9P
SMART Domains Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
AA Change: S9P

DomainStartEndE-ValueType
Pfam:TTL 1 199 2.3e-64 PFAM
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,226,748 (GRCm39) G5S probably damaging Het
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
BC051019 T A 7: 109,315,262 (GRCm39) N331I probably benign Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Micu3 T C 8: 40,835,171 (GRCm39) Y509H possibly damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prf1 T C 10: 61,135,957 (GRCm39) S78P probably benign Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Tiprl A G 1: 165,064,315 (GRCm39) S30P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in Ttl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02742:Ttl APN 2 128,908,213 (GRCm39) missense possibly damaging 0.50
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
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
Posted On 2015-12-18