Incidental Mutation 'IGL01109:Ttc4'
ID 50913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc4
Ensembl Gene ENSMUSG00000025413
Gene Name tetratricopeptide repeat domain 4
Synonyms L62, 2810002P21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL01109
Quality Score
Status
Chromosome 4
Chromosomal Location 106519453-106536141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106520360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 378 (Y378C)
Ref Sequence ENSEMBL: ENSMUSP00000026480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026480] [ENSMUST00000106772]
AlphaFold Q8R3H9
Predicted Effect probably damaging
Transcript: ENSMUST00000026480
AA Change: Y378C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
AA Change: Y378C

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 damaging
Transcript: ENSMUST00000106772
AA Change: Y278C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
AA Change: Y278C

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: ENSMUST00000132650
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 T C 18: 65,440,211 (GRCm39) D861G probably benign Het
Anapc4 A G 5: 53,005,970 (GRCm39) T326A probably damaging Het
Atm T C 9: 53,401,593 (GRCm39) I1425M probably damaging Het
Bend5 T C 4: 111,305,838 (GRCm39) L294P probably damaging Het
Casp7 T A 19: 56,425,177 (GRCm39) D193E probably benign Het
Cdc16 T C 8: 13,814,606 (GRCm39) V130A probably benign Het
Chl1 T G 6: 103,692,354 (GRCm39) Y331D probably damaging Het
Cntn1 C A 15: 92,237,458 (GRCm39) Y1017* probably null Het
Cyb5d1 C A 11: 69,284,610 (GRCm39) probably null Het
Cyp2c38 A G 19: 39,451,329 (GRCm39) probably null Het
Dzip3 T C 16: 48,750,037 (GRCm39) M827V probably benign Het
Ehd1 T A 19: 6,348,177 (GRCm39) M385K possibly damaging Het
Eya3 C A 4: 132,420,311 (GRCm39) Y52* probably null Het
Itsn1 C T 16: 91,603,089 (GRCm39) probably benign Het
Ktn1 A T 14: 47,952,178 (GRCm39) N983I probably damaging Het
Lrrk2 T A 15: 91,623,035 (GRCm39) N1068K probably damaging Het
Mup6 T A 4: 60,006,001 (GRCm39) N156K probably damaging Het
Nedd9 T A 13: 41,469,710 (GRCm39) H481L probably benign Het
Obscn T C 11: 59,024,588 (GRCm39) D484G probably damaging Het
Ogdh T C 11: 6,298,790 (GRCm39) V674A probably damaging Het
Or4a27 T C 2: 88,559,409 (GRCm39) D178G probably damaging Het
Or4f54 G A 2: 111,122,864 (GRCm39) D84N probably benign Het
Or5b113 A G 19: 13,342,063 (GRCm39) I24V probably benign Het
Or5d38 T C 2: 87,955,023 (GRCm39) Q102R probably damaging Het
Or8g53 T C 9: 39,683,293 (GRCm39) M268V probably benign Het
Or8k32 T A 2: 86,368,674 (GRCm39) D195V probably benign Het
Osbpl6 A G 2: 76,379,871 (GRCm39) T154A probably damaging Het
P2rx1 T C 11: 72,899,041 (GRCm39) V84A probably damaging Het
Pcdh11x G A X: 119,310,611 (GRCm39) V685I possibly damaging Het
Ppp4r3b T A 11: 29,138,288 (GRCm39) V212E probably damaging Het
Prune2 A G 19: 17,101,243 (GRCm39) D2249G probably benign Het
Slc5a8 T A 10: 88,742,254 (GRCm39) S317T possibly damaging Het
Ssc5d T A 7: 4,940,111 (GRCm39) L822* probably null Het
Swt1 A G 1: 151,286,890 (GRCm39) S201P probably damaging Het
Tet1 T A 10: 62,715,553 (GRCm39) M81L probably benign Het
Tex9 T A 9: 72,395,349 (GRCm39) N39I probably damaging Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Ugt2b35 C T 5: 87,156,165 (GRCm39) T419I probably damaging Het
Ugt3a1 T G 15: 9,367,354 (GRCm39) F366V probably damaging Het
Zfp324 A G 7: 12,703,362 (GRCm39) T95A probably benign Het
Other mutations in Ttc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Ttc4 APN 4 106,528,845 (GRCm39) missense probably benign 0.00
IGL01825:Ttc4 APN 4 106,528,816 (GRCm39) splice site probably null
IGL02221:Ttc4 APN 4 106,533,793 (GRCm39) critical splice donor site probably null
IGL03333:Ttc4 APN 4 106,533,828 (GRCm39) missense probably benign 0.19
IGL03385:Ttc4 APN 4 106,525,397 (GRCm39) missense probably benign 0.00
R0398:Ttc4 UTSW 4 106,524,770 (GRCm39) splice site probably null
R1300:Ttc4 UTSW 4 106,524,763 (GRCm39) missense probably damaging 1.00
R4250:Ttc4 UTSW 4 106,522,880 (GRCm39) missense probably damaging 0.96
R5047:Ttc4 UTSW 4 106,525,435 (GRCm39) missense probably damaging 1.00
R5911:Ttc4 UTSW 4 106,525,240 (GRCm39) missense probably damaging 0.96
R7313:Ttc4 UTSW 4 106,536,017 (GRCm39) missense possibly damaging 0.54
R7874:Ttc4 UTSW 4 106,522,881 (GRCm39) missense probably benign 0.40
R8341:Ttc4 UTSW 4 106,522,893 (GRCm39) missense probably benign
R9311:Ttc4 UTSW 4 106,535,963 (GRCm39) missense probably benign 0.03
R9689:Ttc4 UTSW 4 106,528,919 (GRCm39) missense probably benign
Z1177:Ttc4 UTSW 4 106,525,367 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21