Incidental Mutation 'IGL01075:Ttc4'
ID50859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc4
Ensembl Gene ENSMUSG00000025413
Gene Nametetratricopeptide repeat domain 4
Synonyms2810002P21Rik, L62
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL01075
Quality Score
Status
Chromosome4
Chromosomal Location106662256-106678944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106671648 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 209 (I209M)
Ref Sequence ENSEMBL: ENSMUSP00000116620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026480] [ENSMUST00000106772] [ENSMUST00000135676]
Predicted Effect probably benign
Transcript: ENSMUST00000026480
AA Change: I190M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
AA Change: I190M

DomainStartEndE-ValueType
TPR 79 112 1.26e1 SMART
TPR 117 150 7.27e0 SMART
TPR 151 184 3.07e1 SMART
low complexity region 235 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106772
AA Change: I190M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
AA Change: I190M

DomainStartEndE-ValueType
TPR 79 112 1.26e1 SMART
TPR 117 150 7.27e0 SMART
TPR 151 184 3.07e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132650
Predicted Effect probably benign
Transcript: ENSMUST00000135676
AA Change: I209M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116620
Gene: ENSMUSG00000025413
AA Change: I209M

DomainStartEndE-ValueType
Pfam:TPR_11 77 148 1.1e-14 PFAM
Pfam:TPR_1 79 109 8.2e-5 PFAM
Pfam:TPR_2 79 110 1.2e-3 PFAM
Blast:TPR 173 203 1e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,987,025 T700A possibly damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd3 T C 11: 69,359,965 D646G probably damaging Het
Esf1 A G 2: 140,120,745 V802A probably benign Het
Gm13084 T C 4: 143,811,646 T252A possibly damaging Het
Hdac6 T C X: 7,936,452 probably null Het
Il1rap A C 16: 26,680,237 N162T possibly damaging Het
Mpdu1 T C 11: 69,657,325 T208A probably damaging Het
Mrpl51 T C 6: 125,192,603 V56A probably benign Het
Myadm A C 7: 3,297,246 T175P probably damaging Het
Nek1 C A 8: 61,124,132 T1077K possibly damaging Het
Olfr1153 A G 2: 87,896,921 T249A probably benign Het
Pcnt G A 10: 76,422,904 Q576* probably null Het
Tchhl1 A T 3: 93,470,316 D109V probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tns3 G A 11: 8,478,399 P848S probably benign Het
Zfp536 A T 7: 37,567,890 S700R probably damaging Het
Other mutations in Ttc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Ttc4 APN 4 106663163 missense probably damaging 1.00
IGL01825:Ttc4 APN 4 106671619 splice site probably null
IGL02221:Ttc4 APN 4 106676596 critical splice donor site probably null
IGL03333:Ttc4 APN 4 106676631 missense probably benign 0.19
IGL03385:Ttc4 APN 4 106668200 missense probably benign 0.00
R0398:Ttc4 UTSW 4 106667573 unclassified probably null
R1300:Ttc4 UTSW 4 106667566 missense probably damaging 1.00
R4250:Ttc4 UTSW 4 106665683 missense probably damaging 0.96
R5047:Ttc4 UTSW 4 106668238 missense probably damaging 1.00
R5911:Ttc4 UTSW 4 106668043 missense probably damaging 0.96
R7313:Ttc4 UTSW 4 106678820 missense possibly damaging 0.54
Posted On2013-06-21