Incidental Mutation 'IGL02490:Ttll6'
ID 295581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll6
Ensembl Gene ENSMUSG00000038756
Gene Name tubulin tyrosine ligase-like family, member 6
Synonyms t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02490
Quality Score
Status
Chromosome 11
Chromosomal Location 96024612-96056277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96047546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 715 (D715V)
Ref Sequence ENSEMBL: ENSMUSP00000127778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]
AlphaFold A4Q9E8
Predicted Effect possibly damaging
Transcript: ENSMUST00000107680
AA Change: D611V

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: D611V

DomainStartEndE-ValueType
Pfam:TTL 1 293 4.4e-90 PFAM
coiled coil region 376 402 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167258
AA Change: D715V

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: D715V

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P 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
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
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
Posted On 2015-04-16