Incidental Mutation 'R6453:Ttll6'
ID 520122
Institutional Source Beutler Lab
Gene Symbol Ttll6
Ensembl Gene ENSMUSG00000038756
Gene Name tubulin tyrosine ligase-like family, member 6
Synonyms t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e
MMRRC Submission 044589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6453 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96024612-96056277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96049553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 757 (R757H)
Ref Sequence ENSEMBL: ENSMUSP00000127778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]
AlphaFold A4Q9E8
Predicted Effect probably benign
Transcript: ENSMUST00000107680
AA Change: R653H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: R653H

DomainStartEndE-ValueType
Pfam:TTL 1 293 4.4e-90 PFAM
coiled coil region 376 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167258
AA Change: R757H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: R757H

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
low complexity region 52 59 N/A INTRINSIC
Pfam:TTL 103 397 2.9e-90 PFAM
coiled coil region 480 506 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.6%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C T 17: 35,879,109 (GRCm39) S149L possibly damaging Het
A830018L16Rik A T 1: 11,868,782 (GRCm39) D354V possibly damaging Het
Acta2 G A 19: 34,224,057 (GRCm39) T150I probably damaging Het
Adgra1 T A 7: 139,455,343 (GRCm39) S324T probably benign Het
Ankrd44 A T 1: 54,696,863 (GRCm39) probably null Het
B430306N03Rik T A 17: 48,623,764 (GRCm39) W22R probably damaging Het
Ccdc162 A T 10: 41,426,821 (GRCm39) V2024E probably damaging Het
Cers6 C T 2: 68,877,513 (GRCm39) H164Y probably benign Het
Chd3 T A 11: 69,240,938 (GRCm39) K1458* probably null Het
Cimip1 A G 2: 173,370,052 (GRCm39) Y109C probably benign Het
Col3a1 G A 1: 45,378,538 (GRCm39) probably benign Het
Cyb5d2 T G 11: 72,673,586 (GRCm39) T3P probably benign Het
Dennd1b A G 1: 139,071,686 (GRCm39) Y468C probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Exoc7 T C 11: 116,184,795 (GRCm39) probably null Het
Fat2 A G 11: 55,173,042 (GRCm39) I2557T probably benign Het
Flt1 T C 5: 147,620,751 (GRCm39) D131G possibly damaging Het
Frem1 G T 4: 82,833,062 (GRCm39) S1858* probably null Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gldc A T 19: 30,093,917 (GRCm39) I700N probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria2 A G 3: 80,648,281 (GRCm39) Y152H possibly damaging Het
H2-Q2 C T 17: 35,563,871 (GRCm39) L251F probably benign Het
Hectd4 G A 5: 121,488,655 (GRCm39) G3649R probably damaging Het
Hormad1 A G 3: 95,485,568 (GRCm39) E252G probably benign Het
Kif14 A G 1: 136,410,042 (GRCm39) probably null Het
Lmcd1 A G 6: 112,292,789 (GRCm39) T214A probably benign Het
Macrod2 A G 2: 142,018,545 (GRCm39) E226G probably damaging Het
Mcm4 A T 16: 15,448,273 (GRCm39) L428Q probably damaging Het
Msh6 T A 17: 88,293,167 (GRCm39) Y641N probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nipa2 A T 7: 55,585,569 (GRCm39) M142K probably damaging Het
Or8b1c T C 9: 38,384,871 (GRCm39) I276T probably benign Het
Parvg A T 15: 84,213,126 (GRCm39) E122V probably null Het
Pclo T A 5: 14,726,803 (GRCm39) probably benign Het
Pik3cd A G 4: 149,736,759 (GRCm39) V933A probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Qpctl C T 7: 18,875,222 (GRCm39) V337I probably damaging Het
Qrfprl G A 6: 65,430,014 (GRCm39) G237S possibly damaging Het
Ralgapa1 A G 12: 55,785,104 (GRCm39) W719R probably damaging Het
Rangrf A G 11: 68,864,378 (GRCm39) L28P probably damaging Het
Rbbp9 G T 2: 144,391,054 (GRCm39) Q38K probably benign Het
Rnf169 C T 7: 99,584,434 (GRCm39) M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sdk1 A G 5: 142,082,676 (GRCm39) D1098G probably damaging Het
Sgsm3 T A 15: 80,895,515 (GRCm39) S689T probably damaging Het
Slc13a3 C T 2: 165,253,867 (GRCm39) V429M possibly damaging Het
Slc30a5 A T 13: 100,951,197 (GRCm39) D228E probably benign Het
Slc46a3 A G 5: 147,823,200 (GRCm39) I214T possibly damaging Het
Slc7a15 T C 12: 8,584,490 (GRCm39) M347V possibly damaging Het
Slc9a2 A T 1: 40,781,781 (GRCm39) I337F possibly damaging Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Speg A G 1: 75,394,616 (GRCm39) N1775S probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sptbn2 A T 19: 4,794,208 (GRCm39) R1471W possibly damaging Het
Thada T C 17: 84,723,751 (GRCm39) E1101G probably damaging Het
Trpm6 G A 19: 18,807,354 (GRCm39) A1033T probably damaging Het
Other mutations in Ttll6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Ttll6 APN 11 96,026,366 (GRCm39) nonsense probably null
IGL02331:Ttll6 APN 11 96,026,573 (GRCm39) missense probably damaging 1.00
IGL02490:Ttll6 APN 11 96,047,546 (GRCm39) missense possibly damaging 0.55
IGL02551:Ttll6 APN 11 96,045,526 (GRCm39) missense probably benign 0.00
IGL02618:Ttll6 APN 11 96,038,388 (GRCm39) missense probably benign 0.04
IGL02712:Ttll6 APN 11 96,030,601 (GRCm39) critical splice donor site probably benign
IGL02720:Ttll6 APN 11 96,042,899 (GRCm39) critical splice donor site probably null
IGL02839:Ttll6 APN 11 96,049,646 (GRCm39) missense probably damaging 1.00
IGL02974:Ttll6 APN 11 96,047,528 (GRCm39) missense probably benign 0.06
IGL03038:Ttll6 APN 11 96,042,786 (GRCm39) missense probably damaging 1.00
IGL03216:Ttll6 APN 11 96,042,840 (GRCm39) missense probably benign 0.00
IGL03271:Ttll6 APN 11 96,047,513 (GRCm39) missense probably benign 0.00
LCD18:Ttll6 UTSW 11 96,046,084 (GRCm39) intron probably benign
R0295:Ttll6 UTSW 11 96,045,540 (GRCm39) missense probably benign 0.09
R0310:Ttll6 UTSW 11 96,038,382 (GRCm39) missense probably benign 0.41
R0466:Ttll6 UTSW 11 96,036,417 (GRCm39) missense probably damaging 1.00
R0533:Ttll6 UTSW 11 96,045,582 (GRCm39) missense probably benign 0.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1453:Ttll6 UTSW 11 96,049,714 (GRCm39) missense possibly damaging 0.82
R1555:Ttll6 UTSW 11 96,036,408 (GRCm39) missense probably damaging 1.00
R1860:Ttll6 UTSW 11 96,029,700 (GRCm39) nonsense probably null
R1861:Ttll6 UTSW 11 96,029,700 (GRCm39) nonsense probably null
R1998:Ttll6 UTSW 11 96,030,601 (GRCm39) critical splice donor site probably null
R2034:Ttll6 UTSW 11 96,026,352 (GRCm39) missense probably damaging 0.99
R2126:Ttll6 UTSW 11 96,038,358 (GRCm39) missense probably damaging 1.00
R3722:Ttll6 UTSW 11 96,024,747 (GRCm39) missense probably benign 0.00
R4684:Ttll6 UTSW 11 96,044,003 (GRCm39) missense probably benign
R4747:Ttll6 UTSW 11 96,036,372 (GRCm39) missense possibly damaging 0.46
R4771:Ttll6 UTSW 11 96,024,655 (GRCm39) missense possibly damaging 0.53
R4955:Ttll6 UTSW 11 96,029,615 (GRCm39) missense possibly damaging 0.87
R5042:Ttll6 UTSW 11 96,045,430 (GRCm39) missense possibly damaging 0.95
R5910:Ttll6 UTSW 11 96,026,415 (GRCm39) missense possibly damaging 0.90
R5951:Ttll6 UTSW 11 96,036,336 (GRCm39) missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96,025,713 (GRCm39) missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96,025,713 (GRCm39) missense probably damaging 1.00
R6134:Ttll6 UTSW 11 96,030,568 (GRCm39) missense possibly damaging 0.69
R6263:Ttll6 UTSW 11 96,047,371 (GRCm39) missense probably benign
R6325:Ttll6 UTSW 11 96,026,331 (GRCm39) missense probably damaging 1.00
R6395:Ttll6 UTSW 11 96,047,414 (GRCm39) missense probably benign 0.05
R6681:Ttll6 UTSW 11 96,029,689 (GRCm39) missense probably damaging 1.00
R7481:Ttll6 UTSW 11 96,045,672 (GRCm39) missense probably benign
R7574:Ttll6 UTSW 11 96,025,701 (GRCm39) missense probably damaging 0.99
R8130:Ttll6 UTSW 11 96,047,425 (GRCm39) missense probably benign 0.05
R8771:Ttll6 UTSW 11 96,042,762 (GRCm39) missense probably damaging 1.00
R8887:Ttll6 UTSW 11 96,047,492 (GRCm39) missense possibly damaging 0.69
R9452:Ttll6 UTSW 11 96,026,588 (GRCm39) missense probably damaging 1.00
R9547:Ttll6 UTSW 11 96,049,588 (GRCm39) missense probably benign 0.01
R9581:Ttll6 UTSW 11 96,049,572 (GRCm39) missense probably benign 0.31
X0022:Ttll6 UTSW 11 96,049,567 (GRCm39) missense probably damaging 0.99
Z1176:Ttll6 UTSW 11 96,025,723 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-06-06