Incidental Mutation 'IGL02490:Ttll6'
ID295581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll6
Ensembl Gene ENSMUSG00000038756
Gene Nametubulin tyrosine ligase-like family, member 6
SynonymsD11Moh43e, t8130b59, 4932418K24Rik, D11Moh44e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL02490
Quality Score
Status
Chromosome11
Chromosomal Location96133786-96165451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96156720 bp
ZygosityHeterozygous
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]
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: 89,101,577 noncoding transcript Het
Adam5 A T 8: 24,781,704 Y562* probably null Het
Akr1d1 T C 6: 37,558,488 V269A probably damaging Het
Anks4b A G 7: 120,174,018 T34A probably damaging Het
Arhgef40 A G 14: 51,989,195 N232S probably damaging Het
Cdc40 C T 10: 40,841,771 V379I probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh13 A G 8: 119,095,323 D307G probably damaging Het
Ces1h A G 8: 93,356,999 probably null Het
Chchd6 T A 6: 89,384,674 H249L possibly damaging Het
Cul1 T C 6: 47,514,886 V392A probably damaging Het
Cwc15 A T 9: 14,502,024 D34V probably damaging Het
Cyp2c39 T C 19: 39,539,002 I264T probably damaging Het
Dapk1 A G 13: 60,749,334 D789G probably damaging Het
Dcdc2a T A 13: 25,107,652 Y207N probably damaging Het
Efcab1 T A 16: 14,916,946 V60E probably benign Het
Flt3 T A 5: 147,331,296 N960Y probably damaging Het
Fmn1 C T 2: 113,529,472 probably benign Het
Foxm1 T A 6: 128,373,351 C400* probably null Het
Ftmt A C 18: 52,331,688 R25S probably benign Het
Guca1b T C 17: 47,389,265 probably benign Het
Hectd4 A T 5: 121,318,613 K680N possibly damaging Het
Hephl1 C A 9: 15,053,685 R1138L probably benign Het
Il1rl2 T A 1: 40,356,812 probably benign Het
Ints2 A T 11: 86,233,183 I593K possibly damaging Het
Iqcg T A 16: 33,035,567 K213* probably null Het
Kif1b T A 4: 149,204,208 S1259C probably benign Het
Klc1 C T 12: 111,781,776 T371M possibly damaging Het
Loxl4 T C 19: 42,604,830 T301A probably benign Het
Lrrc40 T C 3: 158,062,699 L497P probably damaging Het
Masp2 C T 4: 148,607,943 R298W possibly damaging Het
Myo5a A T 9: 75,136,455 Y242F probably damaging Het
Nup98 A G 7: 102,152,366 V784A probably damaging Het
Olfr1138 T C 2: 87,737,955 Y123C probably damaging Het
Osbpl1a G T 18: 12,882,284 probably benign Het
Pcdh10 A G 3: 45,380,487 Y412C probably damaging Het
Pfkfb2 T A 1: 130,700,852 Y339F probably damaging Het
Plcb2 T C 2: 118,719,760 N172D probably damaging Het
Plec T C 15: 76,189,263 Y517C probably damaging Het
Plod2 G T 9: 92,586,842 A207S probably benign Het
Plxdc1 A T 11: 97,954,778 D229E probably benign Het
Ppp3cb A G 14: 20,531,658 probably null Het
Procr T C 2: 155,753,432 L52P probably damaging Het
Psme2b G T 11: 48,946,119 probably benign Het
Rgs22 G A 15: 36,054,847 A727V probably damaging Het
Rock2 T A 12: 16,948,563 W277R probably damaging Het
Rpl26 A G 11: 68,904,390 D112G probably damaging Het
Rxfp1 C A 3: 79,652,167 probably null Het
Sdr39u1 G A 14: 55,898,341 P98L probably damaging Het
Sgms1 T C 19: 32,160,143 K8E probably damaging Het
Stk31 T C 6: 49,417,535 V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,560,131 E79A probably benign Het
Ush2a T C 1: 188,810,364 S3376P probably damaging Het
Vmn2r109 T A 17: 20,540,984 T704S possibly damaging Het
Zfp27 T A 7: 29,894,935 H535L possibly damaging Het
Zfp609 A T 9: 65,703,968 V571D possibly damaging Het
Zfp874a A T 13: 67,442,700 Y288* probably null Het
Zfp993 T C 4: 146,657,617 S133P probably damaging Het
Other mutations in Ttll6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Ttll6 APN 11 96135540 nonsense probably null
IGL02331:Ttll6 APN 11 96135747 missense probably damaging 1.00
IGL02551:Ttll6 APN 11 96154700 missense probably benign 0.00
IGL02618:Ttll6 APN 11 96147562 missense probably benign 0.04
IGL02712:Ttll6 APN 11 96139775 critical splice donor site probably benign
IGL02720:Ttll6 APN 11 96152073 critical splice donor site probably null
IGL02839:Ttll6 APN 11 96158820 missense probably damaging 1.00
IGL02974:Ttll6 APN 11 96156702 missense probably benign 0.06
IGL03038:Ttll6 APN 11 96151960 missense probably damaging 1.00
IGL03216:Ttll6 APN 11 96152014 missense probably benign 0.00
IGL03271:Ttll6 APN 11 96156687 missense probably benign 0.00
LCD18:Ttll6 UTSW 11 96155258 intron probably benign
R0295:Ttll6 UTSW 11 96154714 missense probably benign 0.09
R0310:Ttll6 UTSW 11 96147556 missense probably benign 0.41
R0466:Ttll6 UTSW 11 96145591 missense probably damaging 1.00
R0533:Ttll6 UTSW 11 96154756 missense probably benign 0.00
R1195:Ttll6 UTSW 11 96135729 missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96135729 missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96135729 missense probably damaging 1.00
R1453:Ttll6 UTSW 11 96158888 missense possibly damaging 0.82
R1555:Ttll6 UTSW 11 96145582 missense probably damaging 1.00
R1860:Ttll6 UTSW 11 96138874 nonsense probably null
R1861:Ttll6 UTSW 11 96138874 nonsense probably null
R1998:Ttll6 UTSW 11 96139775 critical splice donor site probably null
R2034:Ttll6 UTSW 11 96135526 missense probably damaging 0.99
R2126:Ttll6 UTSW 11 96147532 missense probably damaging 1.00
R3722:Ttll6 UTSW 11 96133921 missense probably benign 0.00
R4684:Ttll6 UTSW 11 96153177 missense probably benign
R4747:Ttll6 UTSW 11 96145546 missense possibly damaging 0.46
R4771:Ttll6 UTSW 11 96133829 missense possibly damaging 0.53
R4955:Ttll6 UTSW 11 96138789 missense possibly damaging 0.87
R5042:Ttll6 UTSW 11 96154604 missense possibly damaging 0.95
R5910:Ttll6 UTSW 11 96135589 missense possibly damaging 0.90
R5951:Ttll6 UTSW 11 96145510 missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96134887 missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96134887 missense probably damaging 1.00
R6134:Ttll6 UTSW 11 96139742 missense possibly damaging 0.69
R6263:Ttll6 UTSW 11 96156545 missense probably benign
R6325:Ttll6 UTSW 11 96135505 missense probably damaging 1.00
R6395:Ttll6 UTSW 11 96156588 missense probably benign 0.05
R6453:Ttll6 UTSW 11 96158727 missense probably benign 0.00
R6681:Ttll6 UTSW 11 96138863 missense probably damaging 1.00
X0022:Ttll6 UTSW 11 96158741 missense probably damaging 0.99
Posted On2015-04-16