Incidental Mutation 'R7217:Ttll13'
ID561534
Institutional Source Beutler Lab
Gene Symbol Ttll13
Ensembl Gene ENSMUSG00000045467
Gene Nametubulin tyrosine ligase-like family, member 13
Synonyms1700111A04Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #R7217 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location80246376-80260821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 80254163 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamine at position 280 (K280Q)
Ref Sequence ENSEMBL: ENSMUSP00000145702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000205270]
Predicted Effect probably damaging
Transcript: ENSMUST00000058266
AA Change: K311Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: K311Q

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: K280Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.038 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,646,926 H358N probably benign Het
Abcg3 A G 5: 104,939,228 F543L possibly damaging Het
Asnsd1 T C 1: 53,348,193 T92A probably damaging Het
Atg2a G T 19: 6,253,441 probably null Het
Aven T A 2: 112,630,846 N327K possibly damaging Het
Brd9 T C 13: 73,938,944 V116A probably damaging Het
Car14 A G 3: 95,899,317 S250P probably damaging Het
Ccdc138 T C 10: 58,509,600 I138T probably benign Het
Cmya5 A G 13: 93,090,430 Y2717H probably damaging Het
Eno1b C A 18: 48,047,679 T308K probably damaging Het
Epha3 T C 16: 63,552,494 T949A probably benign Het
Fcrl5 C T 3: 87,443,774 T197M probably damaging Het
Foxp2 A T 6: 15,416,024 Q664L unknown Het
Fsip2 A T 2: 82,989,068 K5048N possibly damaging Het
Gcnt4 T C 13: 96,946,310 L38P probably damaging Het
Gm11127 A C 17: 36,056,343 M329R probably benign Het
Gpr68 A G 12: 100,878,799 V162A possibly damaging Het
Grin3a A T 4: 49,770,741 M677K possibly damaging Het
Grm7 A G 6: 111,358,824 Y732C probably damaging Het
Hoxb4 A G 11: 96,319,080 E104G probably benign Het
Kat7 A G 11: 95,291,564 S237P possibly damaging Het
Kif13b T C 14: 64,773,068 V1272A probably damaging Het
Kif20a T A 18: 34,629,560 H495Q probably benign Het
Lama1 A T 17: 67,764,673 T852S Het
Mep1b T A 18: 21,093,543 D487E probably benign Het
Mki67 T C 7: 135,704,182 T656A probably damaging Het
Mlh3 A G 12: 85,266,707 W902R probably benign Het
Muc16 A T 9: 18,644,076 Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,595,266 probably benign Het
Pkd1l2 A G 8: 116,995,797 I2424T probably benign Het
Prl8a2 A G 13: 27,351,015 E91G possibly damaging Het
Prpf18 A G 2: 4,645,624 V65A probably benign Het
Pxmp2 A G 5: 110,285,905 V34A probably damaging Het
Ranbp2 T G 10: 58,452,017 Y36D probably damaging Het
Rbm25 G A 12: 83,664,217 R368Q unknown Het
Rims2 C A 15: 39,476,489 L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Scn8a A T 15: 100,970,227 M318L probably benign Het
Slc35b2 A G 17: 45,565,029 T55A probably benign Het
Trnp1 T C 4: 133,498,105 E118G possibly damaging Het
Wdfy3 A T 5: 101,901,919 H1680Q probably damaging Het
Zfp131 A G 13: 119,775,841 I327T probably damaging Het
Zfp729b A G 13: 67,595,248 V66A probably damaging Het
Other mutations in Ttll13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Ttll13 APN 7 80259549 missense possibly damaging 0.73
IGL01289:Ttll13 APN 7 80260439 missense probably benign
IGL02026:Ttll13 APN 7 80260379 missense probably benign 0.03
IGL02816:Ttll13 APN 7 80253094 missense possibly damaging 0.91
R0345:Ttll13 UTSW 7 80247336 missense probably benign 0.00
R0347:Ttll13 UTSW 7 80260505 missense possibly damaging 0.73
R0491:Ttll13 UTSW 7 80260350 missense probably benign
R1779:Ttll13 UTSW 7 80260508 missense probably benign 0.33
R1983:Ttll13 UTSW 7 80253616 missense possibly damaging 0.70
R2218:Ttll13 UTSW 7 80252502 missense probably damaging 1.00
R2520:Ttll13 UTSW 7 80250216 missense probably damaging 1.00
R4496:Ttll13 UTSW 7 80256919 missense probably benign 0.08
R4736:Ttll13 UTSW 7 80248276 intron probably null
R5330:Ttll13 UTSW 7 80260509 missense probably benign 0.33
R5930:Ttll13 UTSW 7 80253166 missense probably damaging 1.00
R5985:Ttll13 UTSW 7 80254638 missense probably damaging 1.00
R6060:Ttll13 UTSW 7 80258743 missense probably damaging 1.00
R6182:Ttll13 UTSW 7 80260233 missense probably benign 0.18
R6256:Ttll13 UTSW 7 80258304 missense probably benign 0.00
R6501:Ttll13 UTSW 7 80250176 missense possibly damaging 0.89
R6901:Ttll13 UTSW 7 80250182 missense probably damaging 1.00
R7064:Ttll13 UTSW 7 80257030 missense probably null 0.53
R7127:Ttll13 UTSW 7 80253658 missense possibly damaging 0.53
R7241:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7243:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7244:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7246:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7317:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7340:Ttll13 UTSW 7 80257024 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATACGGGACAGTCTCTGGTGAAG -3'
(R):5'- CTTCAAAGCGCTGCTAGCAG -3'

Sequencing Primer
(F):5'- CAGGAGCTGAGCAGTCTTG -3'
(R):5'- TGCTAGCAGCTGGGAGC -3'
Posted On2019-06-26