Incidental Mutation 'R6036:Ttll7'
ID 479199
Institutional Source Beutler Lab
Gene Symbol Ttll7
Ensembl Gene ENSMUSG00000036745
Gene Name tubulin tyrosine ligase-like family, member 7
Synonyms 1110049N09Rik, 4921517B04Rik
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R6036 (G1)
Quality Score 224.009
Status Not validated
Chromosome 3
Chromosomal Location 146558122-146689764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146645917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 592 (I592V)
Ref Sequence ENSEMBL: ENSMUSP00000129369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037942] [ENSMUST00000106134] [ENSMUST00000170055]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037942
AA Change: I592V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038090
SMART Domains Protein: ENSMUSP00000037875
Gene: ENSMUSG00000036745

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 9e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
low complexity region 591 601 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106134
AA Change: I592V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: I592V

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 7.2e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170055
AA Change: I592V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: I592V

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:TTL 84 388 5.9e-80 PFAM
low complexity region 417 439 N/A INTRINSIC
low complexity region 501 516 N/A INTRINSIC
low complexity region 549 563 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197547
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Ttll7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ttll7 APN 3 146,615,337 (GRCm39) missense possibly damaging 0.72
IGL01353:Ttll7 APN 3 146,667,474 (GRCm39) missense probably damaging 1.00
IGL01415:Ttll7 APN 3 146,615,354 (GRCm39) missense possibly damaging 0.90
IGL01843:Ttll7 APN 3 146,645,776 (GRCm39) missense possibly damaging 0.93
IGL03101:Ttll7 APN 3 146,602,445 (GRCm39) missense possibly damaging 0.82
IGL03378:Ttll7 APN 3 146,615,408 (GRCm39) missense probably benign 0.06
P0038:Ttll7 UTSW 3 146,650,939 (GRCm39) missense possibly damaging 0.80
R0265:Ttll7 UTSW 3 146,649,915 (GRCm39) nonsense probably null
R0358:Ttll7 UTSW 3 146,649,871 (GRCm39) missense probably benign
R0363:Ttll7 UTSW 3 146,649,970 (GRCm39) missense probably benign 0.00
R0364:Ttll7 UTSW 3 146,650,936 (GRCm39) missense possibly damaging 0.82
R0751:Ttll7 UTSW 3 146,645,746 (GRCm39) missense probably damaging 1.00
R1184:Ttll7 UTSW 3 146,645,746 (GRCm39) missense probably damaging 1.00
R1533:Ttll7 UTSW 3 146,602,422 (GRCm39) missense probably damaging 1.00
R1771:Ttll7 UTSW 3 146,600,160 (GRCm39) missense probably benign 0.02
R1789:Ttll7 UTSW 3 146,621,535 (GRCm39) missense probably damaging 1.00
R1961:Ttll7 UTSW 3 146,621,550 (GRCm39) splice site probably benign
R1995:Ttll7 UTSW 3 146,667,510 (GRCm39) missense possibly damaging 0.95
R2083:Ttll7 UTSW 3 146,635,859 (GRCm39) missense possibly damaging 0.77
R2152:Ttll7 UTSW 3 146,635,944 (GRCm39) missense probably damaging 1.00
R2655:Ttll7 UTSW 3 146,653,376 (GRCm39) missense probably damaging 1.00
R2926:Ttll7 UTSW 3 146,636,170 (GRCm39) nonsense probably null
R4888:Ttll7 UTSW 3 146,599,932 (GRCm39) start codon destroyed probably null 0.99
R4999:Ttll7 UTSW 3 146,600,224 (GRCm39) missense probably damaging 1.00
R5648:Ttll7 UTSW 3 146,667,465 (GRCm39) missense probably damaging 1.00
R5937:Ttll7 UTSW 3 146,649,847 (GRCm39) nonsense probably null
R6009:Ttll7 UTSW 3 146,640,290 (GRCm39) missense probably damaging 0.99
R6036:Ttll7 UTSW 3 146,645,917 (GRCm39) missense probably benign
R6463:Ttll7 UTSW 3 146,637,337 (GRCm39) missense possibly damaging 0.86
R6747:Ttll7 UTSW 3 146,649,811 (GRCm39) missense probably benign 0.02
R6922:Ttll7 UTSW 3 146,615,369 (GRCm39) missense possibly damaging 0.92
R7123:Ttll7 UTSW 3 146,619,051 (GRCm39) missense possibly damaging 0.95
R7211:Ttll7 UTSW 3 146,619,031 (GRCm39) missense probably damaging 0.97
R8229:Ttll7 UTSW 3 146,607,204 (GRCm39) missense probably damaging 0.99
R8406:Ttll7 UTSW 3 146,645,779 (GRCm39) missense probably benign
R9343:Ttll7 UTSW 3 146,667,497 (GRCm39) missense probably damaging 1.00
R9348:Ttll7 UTSW 3 146,673,768 (GRCm39) missense probably benign 0.31
R9629:Ttll7 UTSW 3 146,621,487 (GRCm39) missense probably damaging 1.00
RF015:Ttll7 UTSW 3 146,685,413 (GRCm39) missense probably benign 0.00
X0024:Ttll7 UTSW 3 146,615,308 (GRCm39) missense probably damaging 1.00
X0026:Ttll7 UTSW 3 146,667,450 (GRCm39) missense probably damaging 1.00
X0027:Ttll7 UTSW 3 146,653,408 (GRCm39) missense probably damaging 1.00
Z1176:Ttll7 UTSW 3 146,653,390 (GRCm39) missense probably damaging 1.00
Z1176:Ttll7 UTSW 3 146,635,933 (GRCm39) missense probably benign 0.01
Z1176:Ttll7 UTSW 3 146,621,526 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-06-26