Incidental Mutation 'R7855:Ttll13'
ID 607185
Institutional Source Beutler Lab
Gene Symbol Ttll13
Ensembl Gene ENSMUSG00000045467
Gene Name tubulin tyrosine ligase-like family, member 13
Synonyms 1700111A04Rik
MMRRC Submission 045908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R7855 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79896124-79910569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79903845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 258 (H258Y)
Ref Sequence ENSEMBL: ENSMUSP00000145702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000205270]
AlphaFold A4Q9F6
Predicted Effect probably damaging
Transcript: ENSMUST00000058266
AA Change: H289Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: H289Y

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:TTL 131 427 3.4e-90 PFAM
coiled coil region 504 528 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
low complexity region 646 657 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205270
AA Change: H258Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,454 (GRCm39) V1173D probably benign Het
Ace A T 11: 105,863,205 (GRCm39) M327L probably benign Het
Bcl2l2 C T 14: 55,121,836 (GRCm39) probably benign Het
Bicdl2 C T 17: 23,884,991 (GRCm39) Q231* probably null Het
Brms1l A T 12: 55,912,838 (GRCm39) D277V possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Col6a3 G T 1: 90,738,343 (GRCm39) P1059T possibly damaging Het
Coro1c A T 5: 113,986,658 (GRCm39) M262K probably benign Het
Cpxm2 G T 7: 131,659,424 (GRCm39) P481Q possibly damaging Het
Dipk1c G A 18: 84,748,171 (GRCm39) probably benign Het
Dnah12 G T 14: 26,551,286 (GRCm39) V2543F probably benign Het
Dock2 A C 11: 34,223,698 (GRCm39) D1145E probably damaging Het
Elf3 G A 1: 135,182,090 (GRCm39) R364W probably damaging Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Epha3 A G 16: 63,593,923 (GRCm39) I55T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Gm11568 A T 11: 99,749,010 (GRCm39) T72S unknown Het
Igkv3-1 C T 6: 70,681,053 (GRCm39) A84V probably benign Het
Il1rl2 A C 1: 40,382,279 (GRCm39) Y197S probably damaging Het
Il2ra T C 2: 11,685,147 (GRCm39) I161T possibly damaging Het
Itgb8 C T 12: 119,130,507 (GRCm39) R667H probably benign Het
Kcnh7 G A 2: 62,667,538 (GRCm39) Q334* probably null Het
Lctl A C 9: 64,040,498 (GRCm39) R480S possibly damaging Het
Lrba T G 3: 86,222,737 (GRCm39) I617S possibly damaging Het
Marf1 G T 16: 13,932,065 (GRCm39) H1651N probably benign Het
Mitf T A 6: 97,970,157 (GRCm39) Y142N probably damaging Het
Or51v14 T A 7: 103,260,979 (GRCm39) I194F possibly damaging Het
Or52r1 A G 7: 102,536,835 (GRCm39) V175A probably benign Het
Pecam1 A G 11: 106,562,576 (GRCm39) V708A probably benign Het
Pinlyp C T 7: 24,241,865 (GRCm39) probably null Het
Polh G A 17: 46,486,174 (GRCm39) R382W probably damaging Het
Pramel51 A T 12: 88,142,853 (GRCm39) I450N probably benign Het
Prdm10 A G 9: 31,238,770 (GRCm39) I221V probably benign Het
Pskh1 G T 8: 106,639,722 (GRCm39) R134L probably benign Het
Ptpre A G 7: 135,253,724 (GRCm39) N6D probably benign Het
Rasgrp4 C T 7: 28,850,035 (GRCm39) P58L unknown Het
Rhbdf2 G T 11: 116,493,066 (GRCm39) C393* probably null Het
Rlf T C 4: 121,039,888 (GRCm39) I174M possibly damaging Het
Ryr2 T A 13: 11,721,509 (GRCm39) R2641* probably null Het
Semp2l1 A C 1: 32,585,114 (GRCm39) I265M probably damaging Het
Simc1 A G 13: 54,672,645 (GRCm39) H331R probably benign Het
Skp2 A G 15: 9,122,328 (GRCm39) S256P probably benign Het
Smarcd2 T C 11: 106,158,392 (GRCm39) R10G probably benign Het
Spef2 A G 15: 9,687,981 (GRCm39) L480P possibly damaging Het
Tenm4 A G 7: 96,523,081 (GRCm39) H1541R probably damaging Het
Top1 T A 2: 160,556,008 (GRCm39) L489Q probably damaging Het
Unc80 A G 1: 66,522,508 (GRCm39) R237G possibly damaging Het
Vmn1r55 A G 7: 5,149,623 (GRCm39) F267L probably benign Het
Vmn2r96 T A 17: 18,818,130 (GRCm39) M761K possibly damaging Het
Vps33a G A 5: 123,709,042 (GRCm39) H58Y possibly damaging Het
Zfp1002 C T 2: 150,097,066 (GRCm39) R121Q probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp467 T C 6: 48,416,115 (GRCm39) Q179R probably damaging Het
Zfp729a A T 13: 67,768,067 (GRCm39) S721T possibly damaging Het
Zfta T A 19: 7,399,621 (GRCm39) I456N probably damaging Het
Other mutations in Ttll13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Ttll13 APN 7 79,909,297 (GRCm39) missense possibly damaging 0.73
IGL01289:Ttll13 APN 7 79,910,187 (GRCm39) missense probably benign
IGL02026:Ttll13 APN 7 79,910,127 (GRCm39) missense probably benign 0.03
IGL02816:Ttll13 APN 7 79,902,842 (GRCm39) missense possibly damaging 0.91
R0345:Ttll13 UTSW 7 79,897,084 (GRCm39) missense probably benign 0.00
R0347:Ttll13 UTSW 7 79,910,253 (GRCm39) missense possibly damaging 0.73
R0491:Ttll13 UTSW 7 79,910,098 (GRCm39) missense probably benign
R1779:Ttll13 UTSW 7 79,910,256 (GRCm39) missense probably benign 0.33
R1983:Ttll13 UTSW 7 79,903,364 (GRCm39) missense possibly damaging 0.70
R2218:Ttll13 UTSW 7 79,902,250 (GRCm39) missense probably damaging 1.00
R2520:Ttll13 UTSW 7 79,899,964 (GRCm39) missense probably damaging 1.00
R4496:Ttll13 UTSW 7 79,906,667 (GRCm39) missense probably benign 0.08
R4736:Ttll13 UTSW 7 79,898,024 (GRCm39) splice site probably null
R5330:Ttll13 UTSW 7 79,910,257 (GRCm39) missense probably benign 0.33
R5930:Ttll13 UTSW 7 79,902,914 (GRCm39) missense probably damaging 1.00
R5985:Ttll13 UTSW 7 79,904,386 (GRCm39) missense probably damaging 1.00
R6060:Ttll13 UTSW 7 79,908,491 (GRCm39) missense probably damaging 1.00
R6182:Ttll13 UTSW 7 79,909,981 (GRCm39) missense probably benign 0.18
R6256:Ttll13 UTSW 7 79,908,052 (GRCm39) missense probably benign 0.00
R6501:Ttll13 UTSW 7 79,899,924 (GRCm39) missense possibly damaging 0.89
R6901:Ttll13 UTSW 7 79,899,930 (GRCm39) missense probably damaging 1.00
R7064:Ttll13 UTSW 7 79,906,778 (GRCm39) missense probably null 0.53
R7127:Ttll13 UTSW 7 79,903,406 (GRCm39) missense possibly damaging 0.53
R7217:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7241:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7243:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7244:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7246:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7317:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7340:Ttll13 UTSW 7 79,906,772 (GRCm39) missense probably damaging 0.98
R7453:Ttll13 UTSW 7 79,910,182 (GRCm39) missense probably benign
R7579:Ttll13 UTSW 7 79,907,981 (GRCm39) missense probably benign 0.00
R7810:Ttll13 UTSW 7 79,902,875 (GRCm39) missense probably damaging 1.00
R7860:Ttll13 UTSW 7 79,905,135 (GRCm39) missense probably benign 0.02
R8122:Ttll13 UTSW 7 79,909,217 (GRCm39) missense probably benign 0.16
R8739:Ttll13 UTSW 7 79,902,923 (GRCm39) missense probably damaging 0.98
R9124:Ttll13 UTSW 7 79,906,751 (GRCm39) missense probably damaging 1.00
R9154:Ttll13 UTSW 7 79,897,182 (GRCm39) missense probably benign
R9157:Ttll13 UTSW 7 79,904,428 (GRCm39) missense possibly damaging 0.95
R9572:Ttll13 UTSW 7 79,908,008 (GRCm39) missense probably benign 0.09
Z1189:Ttll13 UTSW 7 79,908,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCCTCTTTGCCAGGATC -3'
(R):5'- AGGTTATGGTTACTGAGCTCAGAC -3'

Sequencing Primer
(F):5'- TCTTTGCCAGGATCATACGGGAC -3'
(R):5'- GTGTCTTCAAAAGCAGGGATTCC -3'
Posted On 2019-12-20