Incidental Mutation 'IGL02982:Ttc22'
ID 406601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc22
Ensembl Gene ENSMUSG00000034919
Gene Name tetratricopeptide repeat domain 22
Synonyms 4732467L16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02982
Quality Score
Status
Chromosome 4
Chromosomal Location 106479646-106497393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106495783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 379 (V379A)
Ref Sequence ENSEMBL: ENSMUSP00000035773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047922]
AlphaFold Q8C159
Predicted Effect probably damaging
Transcript: ENSMUST00000047922
AA Change: V379A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: V379A

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
TPR 66 99 2.3e1 SMART
Pfam:TPR_8 100 128 2.5e-3 PFAM
TPR 295 328 2.99e1 SMART
TPR 432 465 6.19e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136505
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 with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Ttc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Ttc22 APN 4 106,495,773 (GRCm39) missense probably damaging 1.00
IGL01749:Ttc22 APN 4 106,495,800 (GRCm39) missense probably benign 0.04
IGL02189:Ttc22 APN 4 106,496,354 (GRCm39) missense probably benign 0.21
IGL02206:Ttc22 APN 4 106,493,186 (GRCm39) missense probably damaging 1.00
IGL02219:Ttc22 APN 4 106,495,687 (GRCm39) missense probably damaging 0.97
IGL02348:Ttc22 APN 4 106,480,135 (GRCm39) missense probably damaging 1.00
IGL02754:Ttc22 APN 4 106,495,669 (GRCm39) missense probably benign 0.22
R0044:Ttc22 UTSW 4 106,494,003 (GRCm39) missense probably benign
R0607:Ttc22 UTSW 4 106,496,510 (GRCm39) missense possibly damaging 0.72
R0611:Ttc22 UTSW 4 106,491,381 (GRCm39) missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106,480,228 (GRCm39) missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106,480,228 (GRCm39) missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1584:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1654:Ttc22 UTSW 4 106,491,408 (GRCm39) missense probably damaging 1.00
R1776:Ttc22 UTSW 4 106,496,237 (GRCm39) missense possibly damaging 0.64
R1864:Ttc22 UTSW 4 106,494,003 (GRCm39) missense probably benign
R1886:Ttc22 UTSW 4 106,494,063 (GRCm39) critical splice donor site probably null
R2136:Ttc22 UTSW 4 106,479,869 (GRCm39) missense possibly damaging 0.49
R2156:Ttc22 UTSW 4 106,496,237 (GRCm39) missense probably benign 0.43
R2267:Ttc22 UTSW 4 106,496,282 (GRCm39) missense possibly damaging 0.60
R2698:Ttc22 UTSW 4 106,496,435 (GRCm39) missense probably benign
R3162:Ttc22 UTSW 4 106,480,276 (GRCm39) missense probably damaging 0.97
R3162:Ttc22 UTSW 4 106,480,276 (GRCm39) missense probably damaging 0.97
R3754:Ttc22 UTSW 4 106,496,278 (GRCm39) missense probably damaging 0.99
R5399:Ttc22 UTSW 4 106,493,954 (GRCm39) missense probably damaging 1.00
R5839:Ttc22 UTSW 4 106,495,717 (GRCm39) missense probably damaging 0.99
R6156:Ttc22 UTSW 4 106,495,780 (GRCm39) missense probably benign 0.00
R6678:Ttc22 UTSW 4 106,480,242 (GRCm39) missense probably benign 0.17
R6912:Ttc22 UTSW 4 106,495,800 (GRCm39) missense probably benign 0.04
R7094:Ttc22 UTSW 4 106,493,104 (GRCm39) nonsense probably null
R8166:Ttc22 UTSW 4 106,491,673 (GRCm39) missense probably damaging 0.99
R8253:Ttc22 UTSW 4 106,495,717 (GRCm39) missense probably damaging 0.99
R8334:Ttc22 UTSW 4 106,496,115 (GRCm39) splice site probably null
Z1177:Ttc22 UTSW 4 106,479,720 (GRCm39) start gained probably benign
Posted On 2016-08-02