Incidental Mutation 'R1125:Ttll10'
ID 96039
Institutional Source Beutler Lab
Gene Symbol Ttll10
Ensembl Gene ENSMUSG00000029074
Gene Name tubulin tyrosine ligase-like family, member 10
Synonyms 4833412E22Rik, 4930595O22Rik, Ttll5
MMRRC Submission 039198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1125 (G1)
Quality Score 165
Status Not validated
Chromosome 4
Chromosomal Location 156119292-156135274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156119495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 664 (S664P)
Ref Sequence ENSEMBL: ENSMUSP00000139316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051509] [ENSMUST00000184348] [ENSMUST00000184684]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051509
AA Change: S635P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: S635P

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 63 73 N/A INTRINSIC
low complexity region 104 118 N/A INTRINSIC
Pfam:TTL 189 507 1.8e-48 PFAM
low complexity region 541 583 N/A INTRINSIC
low complexity region 587 600 N/A INTRINSIC
low complexity region 622 638 N/A INTRINSIC
low complexity region 652 671 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151836
Predicted Effect possibly damaging
Transcript: ENSMUST00000184348
AA Change: S664P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: S664P

DomainStartEndE-ValueType
low complexity region 92 102 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:TTL 218 536 7.9e-48 PFAM
low complexity region 570 612 N/A INTRINSIC
low complexity region 616 629 N/A INTRINSIC
low complexity region 651 667 N/A INTRINSIC
low complexity region 681 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184684
SMART Domains Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074

DomainStartEndE-ValueType
low complexity region 15 29 N/A INTRINSIC
Pfam:TTL 100 418 2.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184750
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,898,378 (GRCm39) I254T probably benign Het
Abcb5 T C 12: 118,875,282 (GRCm39) D630G possibly damaging Het
Anks4b T G 7: 119,781,580 (GRCm39) F204V possibly damaging Het
Bltp3a T C 17: 28,112,423 (GRCm39) V1204A probably damaging Het
C87436 T C 6: 86,424,344 (GRCm39) V282A probably benign Het
Cav3 T A 6: 112,449,257 (GRCm39) F92I probably damaging Het
Cbs A T 17: 31,851,805 (GRCm39) V66E probably benign Het
Cd226 A G 18: 89,286,046 (GRCm39) I172V probably benign Het
Cimip2b A G 4: 43,427,550 (GRCm39) I258T probably damaging Het
Ctns C A 11: 73,078,663 (GRCm39) probably null Het
Gid4 A G 11: 60,315,607 (GRCm39) D66G possibly damaging Het
Glra3 A G 8: 56,492,789 (GRCm39) D163G possibly damaging Het
Lrrc23 A G 6: 124,753,145 (GRCm39) V167A probably benign Het
Nbea A T 3: 55,764,427 (GRCm39) L1979* probably null Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Necab1 T A 4: 15,111,257 (GRCm39) D57V probably damaging Het
Or2ag12 T A 7: 106,277,214 (GRCm39) T160S possibly damaging Het
Plekhd1 C A 12: 80,753,998 (GRCm39) Q155K possibly damaging Het
Ppara A G 15: 85,673,256 (GRCm39) N149S possibly damaging Het
Slc30a5 C T 13: 100,939,921 (GRCm39) V665M probably damaging Het
Sntb1 T G 15: 55,612,676 (GRCm39) T301P probably benign Het
Tlr5 A T 1: 182,801,457 (GRCm39) T240S probably benign Het
Ttc5 A G 14: 51,015,335 (GRCm39) L92P probably damaging Het
Vmn2r45 G A 7: 8,488,542 (GRCm39) R163C probably benign Het
Vmn2r94 T C 17: 18,477,717 (GRCm39) I231M probably damaging Het
Other mutations in Ttll10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Ttll10 APN 4 156,131,351 (GRCm39) missense probably benign 0.09
IGL02109:Ttll10 APN 4 156,131,937 (GRCm39) missense probably benign
IGL02121:Ttll10 APN 4 156,132,890 (GRCm39) missense probably benign 0.04
F6893:Ttll10 UTSW 4 156,132,775 (GRCm39) missense probably benign 0.00
R0366:Ttll10 UTSW 4 156,119,612 (GRCm39) missense probably damaging 0.97
R0502:Ttll10 UTSW 4 156,132,005 (GRCm39) splice site probably benign
R0503:Ttll10 UTSW 4 156,132,005 (GRCm39) splice site probably benign
R0523:Ttll10 UTSW 4 156,129,818 (GRCm39) nonsense probably null
R0865:Ttll10 UTSW 4 156,128,135 (GRCm39) missense probably damaging 1.00
R0907:Ttll10 UTSW 4 156,120,621 (GRCm39) nonsense probably null
R1555:Ttll10 UTSW 4 156,119,596 (GRCm39) missense probably benign 0.00
R1797:Ttll10 UTSW 4 156,132,024 (GRCm39) missense probably damaging 0.96
R3899:Ttll10 UTSW 4 156,120,257 (GRCm39) missense probably damaging 1.00
R4426:Ttll10 UTSW 4 156,133,018 (GRCm39) missense possibly damaging 0.55
R5715:Ttll10 UTSW 4 156,129,848 (GRCm39) missense probably damaging 1.00
R5762:Ttll10 UTSW 4 156,119,438 (GRCm39) missense possibly damaging 0.93
R5814:Ttll10 UTSW 4 156,132,084 (GRCm39) missense possibly damaging 0.51
R5958:Ttll10 UTSW 4 156,120,523 (GRCm39) splice site probably null
R5994:Ttll10 UTSW 4 156,133,189 (GRCm39) splice site probably null
R6084:Ttll10 UTSW 4 156,129,814 (GRCm39) missense probably benign 0.34
R7027:Ttll10 UTSW 4 156,120,258 (GRCm39) missense possibly damaging 0.70
R7719:Ttll10 UTSW 4 156,131,665 (GRCm39) splice site probably null
R8010:Ttll10 UTSW 4 156,131,618 (GRCm39) missense probably damaging 1.00
R8118:Ttll10 UTSW 4 156,129,219 (GRCm39) missense probably benign 0.05
R8167:Ttll10 UTSW 4 156,129,213 (GRCm39) missense probably null 0.01
R8213:Ttll10 UTSW 4 156,120,691 (GRCm39) missense probably benign 0.15
R8835:Ttll10 UTSW 4 156,133,055 (GRCm39) missense probably benign 0.00
R9487:Ttll10 UTSW 4 156,127,616 (GRCm39) missense probably benign 0.00
R9639:Ttll10 UTSW 4 156,119,503 (GRCm39) missense probably benign 0.07
Z1176:Ttll10 UTSW 4 156,132,974 (GRCm39) missense probably benign
Z1177:Ttll10 UTSW 4 156,131,895 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TTTTATAGGTCCCGGAGAGGGCAC -3'
(R):5'- AAGATGCTGCCTCTGCTGTCAC -3'

Sequencing Primer
(F):5'- CACAGCAAGGTGCAGGG -3'
(R):5'- cctaaccctcaccctaaccc -3'
Posted On 2014-01-05