Incidental Mutation 'R6325:Ttll6'
ID 510241
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 044479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6325 (G1)
Quality Score 212.009
Status Validated
Chromosome 11
Chromosomal Location 96024612-96056277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96026331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 79 (Y79H)
Ref Sequence ENSEMBL: ENSMUSP00000127778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]
AlphaFold A4Q9E8
Predicted Effect probably benign
Transcript: ENSMUST00000107680
SMART Domains Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756

DomainStartEndE-ValueType
Pfam:TTL 1 293 4.4e-90 PFAM
coiled coil region 376 402 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167258
AA Change: Y79H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: Y79H

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
Meta Mutation Damage Score 0.2091 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,964,944 (GRCm39) I596T probably benign Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Birc7 G A 2: 180,571,243 (GRCm39) D102N probably benign Het
Cct8 A C 16: 87,292,615 (GRCm39) probably null Het
Cntn5 T C 9: 10,144,328 (GRCm39) probably null Het
Cyp11a1 A G 9: 57,932,851 (GRCm39) N396D probably benign Het
Dip2b T C 15: 100,052,163 (GRCm39) S255P probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Fancm T A 12: 65,171,826 (GRCm39) M1822K probably damaging Het
Far2 T C 6: 148,058,995 (GRCm39) V227A probably benign Het
Fbrsl1 A G 5: 110,525,273 (GRCm39) F100L probably damaging Het
Gpd2 T C 2: 57,194,408 (GRCm39) S104P probably damaging Het
Grp T C 18: 66,006,824 (GRCm39) probably null Het
Hamp A C 7: 30,643,328 (GRCm39) H27Q probably benign Het
Hecw1 T A 13: 14,491,031 (GRCm39) S241C probably damaging Het
Itsn2 T A 12: 4,756,351 (GRCm39) I1349N probably damaging Het
Nr4a2 A G 2: 57,002,430 (GRCm39) Y8H probably damaging Het
Or2ak7 T A 11: 58,575,354 (GRCm39) Y218* probably null Het
Or2w1 A T 13: 21,317,245 (GRCm39) Q100L probably damaging Het
Pla2g2e T C 4: 138,607,736 (GRCm39) Y39H probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss1l T C 6: 41,373,590 (GRCm39) V151A probably benign Het
Ptpn20 A T 14: 33,352,962 (GRCm39) T234S possibly damaging Het
Smarca2 T A 19: 26,655,763 (GRCm39) V810E probably damaging Het
Taar2 A T 10: 23,816,615 (GRCm39) M52L probably benign Het
Tex47 A T 5: 7,354,935 (GRCm39) R39* probably null Het
Tnxb T A 17: 34,911,398 (GRCm39) V1567D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp462 C T 4: 55,080,680 (GRCm39) T1344I probably benign Het
Zfp804a A T 2: 82,087,382 (GRCm39) I404L possibly 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
R6395:Ttll6 UTSW 11 96,047,414 (GRCm39) missense probably benign 0.05
R6453:Ttll6 UTSW 11 96,049,553 (GRCm39) missense probably benign 0.00
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 PCR Primer
(F):5'- CATGTAGCCTCAGATGTACCC -3'
(R):5'- GATTCCGGCTGAGATTCAAAGC -3'

Sequencing Primer
(F):5'- TAGCCTCAGATGTACCCTTCAATAAC -3'
(R):5'- CTGAGATTCAAAGCAGGGCTAG -3'
Posted On 2018-04-02