Incidental Mutation 'IGL03038:Ttll6'
ID 408804
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 # IGL03038
Quality Score
Status
Chromosome 11
Chromosomal Location 96024612-96056277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96042786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 444 (F444S)
Ref Sequence ENSEMBL: ENSMUSP00000127778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]
AlphaFold A4Q9E8
Predicted Effect probably damaging
Transcript: ENSMUST00000107680
AA Change: F340S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: F340S

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: F444S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: F444S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign 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
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 2016-08-02