Incidental Mutation 'IGL02816:Ttc13'
ID 360811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc13
Ensembl Gene ENSMUSG00000037300
Gene Name tetratricopeptide repeat domain 13
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02816
Quality Score
Status
Chromosome 8
Chromosomal Location 125398071-125448722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125439415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 113 (I113T)
Ref Sequence ENSEMBL: ENSMUSP00000114043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041614] [ENSMUST00000117624] [ENSMUST00000118134] [ENSMUST00000214828] [ENSMUST00000231984]
AlphaFold A0A1L1SSC7
Predicted Effect probably benign
Transcript: ENSMUST00000041614
AA Change: I113T

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: I113T

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:TPR_11 153 204 3e-8 PFAM
Pfam:TPR_19 154 213 5.1e-8 PFAM
Pfam:TPR_1 173 206 6.1e-10 PFAM
Pfam:TPR_2 173 206 1.2e-7 PFAM
Pfam:TPR_8 173 206 5.2e-8 PFAM
Pfam:TPR_16 177 241 6.5e-11 PFAM
Pfam:TPR_9 179 249 3.5e-6 PFAM
Pfam:TPR_11 204 272 2.2e-8 PFAM
Pfam:TPR_1 207 240 3.3e-5 PFAM
Pfam:TPR_2 207 240 1.9e-5 PFAM
Blast:UTG 692 755 4e-13 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000117624
AA Change: I113T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: I113T

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Blast:TPR 128 161 2e-13 BLAST
TPR 162 194 1.08e1 SMART
TPR 195 228 2.24e-7 SMART
TPR 229 262 3.67e-3 SMART
Blast:UTG 714 777 4e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000118134
AA Change: I113T

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: I113T

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Blast:TPR 128 156 4e-10 BLAST
TPR 181 214 5.56e-3 SMART
TPR 215 248 1.17e-1 SMART
TPR 249 282 2.24e-7 SMART
TPR 283 316 3.67e-3 SMART
Blast:UTG 768 831 1e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127167
Predicted Effect probably benign
Transcript: ENSMUST00000214828
AA Change: I113T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215563
Predicted Effect probably benign
Transcript: ENSMUST00000231984
AA Change: I113T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Caskin1 C A 17: 24,721,144 (GRCm39) P495T probably benign Het
Clcn4 A G 7: 7,298,087 (GRCm39) C41R probably damaging Het
Etfdh G A 3: 79,530,112 (GRCm39) T52M probably damaging Het
Fam227a T C 15: 79,510,497 (GRCm39) T386A possibly damaging Het
Gabrr3 T C 16: 59,260,830 (GRCm39) probably benign Het
Krt25 G T 11: 99,208,977 (GRCm39) D284E probably benign Het
Map1b T C 13: 99,578,263 (GRCm39) D130G probably damaging Het
Nlrp3 T A 11: 59,446,608 (GRCm39) F785I probably benign Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Numa1 T A 7: 101,645,307 (GRCm39) I311N probably damaging Het
Pkd1 T C 17: 24,813,489 (GRCm39) C4010R probably benign Het
Prph A G 15: 98,955,301 (GRCm39) M423V probably damaging Het
Rb1cc1 T A 1: 6,333,052 (GRCm39) probably benign Het
Ribc2 T G 15: 85,017,106 (GRCm39) V48G probably damaging Het
Scyl1 A T 19: 5,820,410 (GRCm39) N141K probably damaging Het
Sec23a T A 12: 59,025,331 (GRCm39) M497L probably benign Het
Strada C T 11: 106,055,251 (GRCm39) probably benign Het
Tas2r144 A T 6: 42,192,539 (GRCm39) Y93F probably benign Het
Tmem94 T A 11: 115,679,530 (GRCm39) probably null Het
Trpc3 A G 3: 36,705,851 (GRCm39) F448S probably damaging Het
Ttc27 T A 17: 75,054,769 (GRCm39) probably benign Het
Ttll13 G T 7: 79,902,842 (GRCm39) C170F possibly damaging Het
Yes1 C T 5: 32,802,451 (GRCm39) T122M probably damaging Het
Other mutations in Ttc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ttc13 APN 8 125,415,586 (GRCm39) splice site probably benign
IGL01086:Ttc13 APN 8 125,402,085 (GRCm39) missense probably damaging 0.98
IGL01411:Ttc13 APN 8 125,410,024 (GRCm39) missense probably damaging 1.00
IGL01511:Ttc13 APN 8 125,403,110 (GRCm39) missense probably damaging 1.00
IGL01610:Ttc13 APN 8 125,403,083 (GRCm39) missense probably damaging 1.00
IGL01626:Ttc13 APN 8 125,400,477 (GRCm39) splice site probably benign
IGL01967:Ttc13 APN 8 125,439,386 (GRCm39) missense probably damaging 0.99
IGL01995:Ttc13 APN 8 125,415,621 (GRCm39) missense probably damaging 1.00
IGL02456:Ttc13 APN 8 125,417,100 (GRCm39) critical splice acceptor site probably null
3-1:Ttc13 UTSW 8 125,405,748 (GRCm39) missense possibly damaging 0.81
LCD18:Ttc13 UTSW 8 125,402,605 (GRCm39) intron probably benign
R0126:Ttc13 UTSW 8 125,410,030 (GRCm39) missense probably damaging 0.99
R0391:Ttc13 UTSW 8 125,401,140 (GRCm39) missense probably damaging 1.00
R0602:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0629:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0638:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0714:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R1981:Ttc13 UTSW 8 125,440,926 (GRCm39) critical splice donor site probably null
R2051:Ttc13 UTSW 8 125,398,950 (GRCm39) splice site probably null
R2324:Ttc13 UTSW 8 125,405,796 (GRCm39) missense probably damaging 1.00
R2404:Ttc13 UTSW 8 125,405,736 (GRCm39) splice site probably benign
R2571:Ttc13 UTSW 8 125,410,538 (GRCm39) missense probably damaging 1.00
R3110:Ttc13 UTSW 8 125,410,573 (GRCm39) missense possibly damaging 0.90
R3112:Ttc13 UTSW 8 125,410,573 (GRCm39) missense possibly damaging 0.90
R4560:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4562:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4563:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4565:Ttc13 UTSW 8 125,408,826 (GRCm39) missense probably damaging 1.00
R4855:Ttc13 UTSW 8 125,401,174 (GRCm39) missense probably damaging 1.00
R4998:Ttc13 UTSW 8 125,406,795 (GRCm39) missense probably damaging 1.00
R5137:Ttc13 UTSW 8 125,421,674 (GRCm39) nonsense probably null
R5397:Ttc13 UTSW 8 125,402,002 (GRCm39) missense possibly damaging 0.94
R5619:Ttc13 UTSW 8 125,406,683 (GRCm39) intron probably benign
R5966:Ttc13 UTSW 8 125,408,959 (GRCm39) intron probably benign
R6092:Ttc13 UTSW 8 125,405,772 (GRCm39) missense probably benign 0.36
R6321:Ttc13 UTSW 8 125,409,930 (GRCm39) missense probably damaging 1.00
R6439:Ttc13 UTSW 8 125,400,221 (GRCm39) missense probably benign 0.02
R6737:Ttc13 UTSW 8 125,408,900 (GRCm39) critical splice acceptor site probably null
R6804:Ttc13 UTSW 8 125,426,426 (GRCm39) missense probably damaging 1.00
R6967:Ttc13 UTSW 8 125,415,357 (GRCm39) missense probably benign 0.17
R7542:Ttc13 UTSW 8 125,401,842 (GRCm39) splice site probably null
R7905:Ttc13 UTSW 8 125,415,335 (GRCm39) missense probably benign 0.09
R8769:Ttc13 UTSW 8 125,405,816 (GRCm39) missense possibly damaging 0.71
R8792:Ttc13 UTSW 8 125,401,099 (GRCm39) critical splice donor site probably null
R8916:Ttc13 UTSW 8 125,409,976 (GRCm39) missense probably damaging 0.96
R8953:Ttc13 UTSW 8 125,402,088 (GRCm39) missense probably damaging 1.00
R9149:Ttc13 UTSW 8 125,410,039 (GRCm39) missense probably benign 0.01
R9151:Ttc13 UTSW 8 125,402,021 (GRCm39) missense probably benign 0.03
R9221:Ttc13 UTSW 8 125,400,290 (GRCm39) missense probably benign 0.20
R9251:Ttc13 UTSW 8 125,401,992 (GRCm39) missense probably benign 0.17
R9502:Ttc13 UTSW 8 125,410,010 (GRCm39) missense possibly damaging 0.93
R9600:Ttc13 UTSW 8 125,415,284 (GRCm39) missense probably benign 0.32
X0027:Ttc13 UTSW 8 125,400,328 (GRCm39) missense probably benign
Z1176:Ttc13 UTSW 8 125,421,581 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18