Incidental Mutation 'IGL03106:Ttc12'
ID418956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc12
Ensembl Gene ENSMUSG00000040219
Gene Nametetratricopeptide repeat domain 12
SynonymsE330017O07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #IGL03106
Quality Score
Status
Chromosome9
Chromosomal Location49436963-49486225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49458062 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 253 (K253E)
Ref Sequence ENSEMBL: ENSMUSP00000056378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055096]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055096
AA Change: K253E

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: K253E

DomainStartEndE-ValueType
coiled coil region 1 29 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
TPR 105 138 9.39e-1 SMART
TPR 139 172 1.97e-3 SMART
TPR 173 206 1.09e-5 SMART
low complexity region 356 368 N/A INTRINSIC
low complexity region 602 613 N/A INTRINSIC
Blast:ARM 634 675 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146666
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 24,715,119 probably benign Het
Adgrv1 T C 13: 81,472,899 N3911S probably benign Het
Alox12b C T 11: 69,168,876 Q585* probably null Het
Amtn A G 5: 88,378,085 Q36R probably benign Het
Arg2 G A 12: 79,149,891 G129S probably damaging Het
Arhgef28 A C 13: 97,957,793 Y948D probably damaging Het
Atp10b T C 11: 43,247,477 V1195A probably benign Het
Bet1l G T 7: 140,854,610 T42K probably benign Het
Cabin1 G A 10: 75,733,628 T875I probably benign Het
Ccdc17 A G 4: 116,596,836 probably null Het
Crebrf A G 17: 26,771,319 E612G probably damaging Het
Cyp2c67 A T 19: 39,643,675 M83K probably benign Het
Dgkz A G 2: 91,940,859 S414P probably damaging Het
Dock10 G T 1: 80,568,834 H411N probably damaging Het
Dpyd A T 3: 119,195,134 T749S probably benign Het
Dsc1 C T 18: 20,086,644 probably null Het
Echdc1 A T 10: 29,322,280 M74L probably damaging Het
Edn1 C A 13: 42,305,023 T104K possibly damaging Het
Fat2 T A 11: 55,311,901 T116S probably benign Het
Fcrl5 A T 3: 87,435,883 probably null Het
Fpgt C T 3: 155,087,122 G423R probably damaging Het
Gprc5b A T 7: 118,984,193 V151E probably damaging Het
Grm5 A G 7: 88,036,070 Y465C probably damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Ighmbp2 T C 19: 3,273,022 K308R possibly damaging Het
Lrch1 A T 14: 74,835,762 S146T possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mterf3 T C 13: 66,930,157 K16R probably damaging Het
Ncapg T A 5: 45,695,668 H825Q probably damaging Het
Olfr1095 A C 2: 86,851,614 L28R possibly damaging Het
Olfr1138 A T 2: 87,738,118 S69T probably benign Het
Olfr1392 T A 11: 49,294,161 I280N probably damaging Het
Olfr1443 G A 19: 12,680,923 V272M possibly damaging Het
Olfr31 G A 14: 14,328,851 V247I probably damaging Het
Olfr984 A G 9: 40,100,734 V252A probably damaging Het
Pald1 A T 10: 61,347,105 M355K probably benign Het
Phc1 A G 6: 122,323,469 probably benign Het
Phkb T A 8: 86,018,466 probably benign Het
Pkn3 G T 2: 30,085,245 R506L probably damaging Het
Plod2 T C 9: 92,573,567 Y100H probably damaging Het
Prl7b1 G T 13: 27,606,935 Q56K probably benign Het
Rhot1 T A 11: 80,242,581 C229* probably null Het
Sema3a G A 5: 13,599,488 R735Q probably damaging Het
Slc18b1 A G 10: 23,826,659 *460W probably null Het
Slco6c1 T A 1: 97,066,023 probably benign Het
Slu7 T A 11: 43,442,630 V359D possibly damaging Het
Suco T C 1: 161,834,480 Y794C possibly damaging Het
Sult3a2 T C 10: 33,779,773 N70S probably benign Het
Taar2 A T 10: 23,941,297 D245V probably damaging Het
Taf1d A G 9: 15,309,941 H181R possibly damaging Het
Tmem33 T C 5: 67,263,796 S38P probably damaging Het
Traf3ip1 T C 1: 91,522,887 S519P probably benign Het
Other mutations in Ttc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Ttc12 APN 9 49471206 splice site probably null
IGL01300:Ttc12 APN 9 49447922 splice site probably benign
IGL02100:Ttc12 APN 9 49440182 missense probably damaging 1.00
I2288:Ttc12 UTSW 9 49470258 missense possibly damaging 0.62
R1238:Ttc12 UTSW 9 49458187 splice site probably benign
R1712:Ttc12 UTSW 9 49445199 missense probably benign
R1725:Ttc12 UTSW 9 49458115 missense probably benign 0.08
R1824:Ttc12 UTSW 9 49456884 missense probably damaging 1.00
R1916:Ttc12 UTSW 9 49460398 missense probably damaging 1.00
R2226:Ttc12 UTSW 9 49441835 critical splice donor site probably null
R4498:Ttc12 UTSW 9 49472405 missense probably damaging 1.00
R5920:Ttc12 UTSW 9 49453333 missense possibly damaging 0.48
R6020:Ttc12 UTSW 9 49443122 missense probably damaging 0.96
R6687:Ttc12 UTSW 9 49438418 missense probably benign 0.08
R6755:Ttc12 UTSW 9 49453346 missense probably benign 0.00
R6975:Ttc12 UTSW 9 49438418 missense probably benign 0.08
Posted On2016-08-02