Incidental Mutation 'R8403:Ttl'
ID 652258
Institutional Source Beutler Lab
Gene Symbol Ttl
Ensembl Gene ENSMUSG00000027394
Gene Name tubulin tyrosine ligase
Synonyms 2700049H19Rik, 2410003M22Rik
MMRRC Submission 067813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8403 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 128907867-128938203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128923163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 168 (E168G)
Ref Sequence ENSEMBL: ENSMUSP00000046883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035812]
AlphaFold P38585
Predicted Effect possibly damaging
Transcript: ENSMUST00000035812
AA Change: E168G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: E168G

DomainStartEndE-ValueType
Pfam:TTL 54 367 1.2e-72 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
AA Change: E26G

DomainStartEndE-ValueType
Pfam:TTL 1 199 2.3e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (43/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b T A 11: 62,140,141 (GRCm39) C72S probably damaging Het
Atcay T C 10: 81,048,782 (GRCm39) Y183C probably damaging Het
Atp1a1 A T 3: 101,494,220 (GRCm39) I460N probably damaging Het
Bhmt1b C T 18: 87,775,575 (GRCm39) S366F probably damaging Het
Celf4 T C 18: 25,637,327 (GRCm39) S223G possibly damaging Het
Ces2c T A 8: 105,574,714 (GRCm39) V57D probably damaging Het
Ces2f T C 8: 105,674,808 (GRCm39) V70A possibly damaging Het
Cntnap1 C T 11: 101,068,416 (GRCm39) P114S probably damaging Het
Cpsf1 A G 15: 76,484,483 (GRCm39) F666S probably damaging Het
Cuzd1 T A 7: 130,913,297 (GRCm39) D440V probably damaging Het
Dhx57 T C 17: 80,585,718 (GRCm39) E107G probably damaging Het
Dop1a G T 9: 86,382,925 (GRCm39) R286L probably damaging Het
Fam135a G A 1: 24,067,908 (GRCm39) T987I probably benign Het
Fastkd1 G T 2: 69,517,425 (GRCm39) Y818* probably null Het
Fer1l4 A C 2: 155,894,163 (GRCm39) F47V possibly damaging Het
Fryl A G 5: 73,275,790 (GRCm39) *125R probably null Het
Herc6 A G 6: 57,560,191 (GRCm39) D77G probably benign Het
Hmox1 T C 8: 75,823,959 (GRCm39) L209P probably damaging Het
Kcns3 A T 12: 11,141,654 (GRCm39) D348E probably benign Het
Lama1 T A 17: 68,052,918 (GRCm39) I417N Het
Lmo7 T C 14: 102,139,800 (GRCm39) S1028P probably benign Het
Lrrc37a C G 11: 103,392,411 (GRCm39) E1005Q probably benign Het
Mis18bp1 A T 12: 65,201,585 (GRCm39) I372K possibly damaging Het
Nr4a3 A G 4: 48,051,348 (GRCm39) D34G probably damaging Het
Or4c113 A T 2: 88,884,948 (GRCm39) V274D probably benign Het
Parp12 T C 6: 39,068,279 (GRCm39) D496G probably benign Het
Rom1 A G 19: 8,905,244 (GRCm39) V282A probably benign Het
Rp1l1 G A 14: 64,266,258 (GRCm39) V615I probably benign Het
Rpgrip1 A G 14: 52,389,658 (GRCm39) probably null Het
Ryr2 A G 13: 11,699,364 (GRCm39) I2959T possibly damaging Het
Sema4a T G 3: 88,359,341 (GRCm39) K117Q probably damaging Het
Slc22a29 A G 19: 8,139,004 (GRCm39) M486T possibly damaging Het
Sntb2 T A 8: 107,728,166 (GRCm39) C371* probably null Het
Spata31d1c A G 13: 65,184,044 (GRCm39) T529A probably benign Het
Tchp G T 5: 114,846,827 (GRCm39) R38L possibly damaging Het
Tnpo2 T C 8: 85,773,926 (GRCm39) V320A probably benign Het
Trim50 A T 5: 135,392,646 (GRCm39) D187V probably damaging Het
Tuba1c T A 15: 98,931,985 (GRCm39) I5N probably damaging Het
Tyr C T 7: 87,087,175 (GRCm39) G446R probably damaging Het
Vps35 C T 8: 86,001,487 (GRCm39) V444I probably benign Het
Vstm2b T C 7: 40,551,899 (GRCm39) S76P probably damaging Het
Other mutations in Ttl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGCGCTCTATGGAGAAGTTAATG -3'
(R):5'- ATCTTGGCCAGCACCATAATC -3'

Sequencing Primer
(F):5'- CTCTATGGAGAAGTTAATGGGATGGC -3'
(R):5'- TTGGCCAGCACCATAATCTAAGTAG -3'
Posted On 2020-10-20