Incidental Mutation 'IGL02219:Ttc22'
ID285046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc22
Ensembl Gene ENSMUSG00000034919
Gene Nametetratricopeptide repeat domain 22
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02219
Quality Score
Status
Chromosome4
Chromosomal Location106622432-106640189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106638490 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 347 (V347D)
Ref Sequence ENSEMBL: ENSMUSP00000035773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047922]
Predicted Effect probably damaging
Transcript: ENSMUST00000047922
AA Change: V347D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: V347D

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,154,635 Y1675H probably damaging Het
A730013G03Rik A T 1: 192,833,383 noncoding transcript Het
Abcb10 G A 8: 123,954,427 H677Y probably benign Het
Ager T C 17: 34,600,120 V314A probably damaging Het
Asxl3 A G 18: 22,453,626 M158V possibly damaging Het
Atp1a2 A T 1: 172,279,718 M745K probably damaging Het
Atp1a2 G A 1: 172,279,731 Q741* probably null Het
Begain A G 12: 109,033,730 S577P probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Camk2b A G 11: 5,976,872 L497P possibly damaging Het
Cand2 T A 6: 115,803,812 I1219N probably damaging Het
Cckbr T A 7: 105,434,048 Y153N probably damaging Het
Cep250 T G 2: 155,991,594 V1812G probably benign Het
Cyp2c39 A T 19: 39,568,199 probably benign Het
Ddx43 T A 9: 78,416,719 M444K probably damaging Het
Dnm1 A T 2: 32,323,450 M506K probably benign Het
Duox2 A T 2: 122,294,664 H352Q probably benign Het
Fsip2 A G 2: 82,977,830 T1498A probably benign Het
Gcn1l1 A T 5: 115,613,767 Q2067L possibly damaging Het
Get4 G T 5: 139,263,629 probably null Het
Gm6370 G A 5: 146,493,643 A213T possibly damaging Het
Gpr135 T C 12: 72,070,273 Y240C probably damaging Het
Gstm5 T A 3: 107,898,031 L145Q probably damaging Het
Hoxb3 T C 11: 96,346,160 Y355H probably damaging Het
Hsf2 A C 10: 57,496,274 K108Q probably damaging Het
Kdm3a T C 6: 71,600,734 N694S probably benign Het
Lrpap1 G A 5: 35,096,067 probably benign Het
Mapk8ip3 T C 17: 24,899,558 T1162A probably damaging Het
Mettl14 T C 3: 123,374,891 probably benign Het
Mrgprx1 T C 7: 48,021,729 Y90C probably benign Het
Mybpc3 A T 2: 91,121,023 probably null Het
Nup88 C T 11: 70,969,692 G87D probably benign Het
Olfr1153 A G 2: 87,896,973 Y258C possibly damaging Het
Olfr1502 C T 19: 13,861,823 T10M probably damaging Het
Olfr39 A T 9: 20,286,460 T254S probably benign Het
Pan2 G A 10: 128,320,352 E1133K probably benign Het
Pcsk2 T C 2: 143,793,125 S307P probably damaging Het
Pdgfa C T 5: 138,986,195 V150I probably damaging Het
Phf12 T C 11: 77,984,196 C83R probably damaging Het
Pla2g2c A G 4: 138,736,008 Y71C probably damaging Het
Pou2f2 T A 7: 25,097,682 Q218L probably damaging Het
Prl8a9 C T 13: 27,559,370 V151I possibly damaging Het
Prop1 T C 11: 50,952,084 D92G probably damaging Het
Rnf13 A G 3: 57,796,223 Y116C probably damaging Het
Scrib T A 15: 76,065,036 K383* probably null Het
Slc44a5 T C 3: 154,239,159 Y138H possibly damaging Het
Stra6 G A 9: 58,140,469 V108M probably benign Het
Trove2 A G 1: 143,761,275 C400R possibly damaging Het
Tspan10 G T 11: 120,446,372 A323S probably benign Het
Ugt1a10 C T 1: 88,056,058 L193F probably benign Het
Vps13d G T 4: 145,168,146 H457N probably benign Het
Vrtn A G 12: 84,648,833 Y119C probably damaging Het
Xpnpep3 T C 15: 81,427,456 F121S probably damaging Het
Other mutations in Ttc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Ttc22 APN 4 106638576 missense probably damaging 1.00
IGL01749:Ttc22 APN 4 106638603 missense probably benign 0.04
IGL02189:Ttc22 APN 4 106639157 missense probably benign 0.21
IGL02206:Ttc22 APN 4 106635989 missense probably damaging 1.00
IGL02348:Ttc22 APN 4 106622938 missense probably damaging 1.00
IGL02754:Ttc22 APN 4 106638472 missense probably benign 0.22
IGL02982:Ttc22 APN 4 106638586 missense probably damaging 0.97
R0044:Ttc22 UTSW 4 106636806 missense probably benign
R0607:Ttc22 UTSW 4 106639313 missense possibly damaging 0.72
R0611:Ttc22 UTSW 4 106634184 missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106623031 missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106623031 missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106622780 missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106622780 missense probably damaging 1.00
R1584:Ttc22 UTSW 4 106622780 missense probably damaging 1.00
R1654:Ttc22 UTSW 4 106634211 missense probably damaging 1.00
R1776:Ttc22 UTSW 4 106639040 missense possibly damaging 0.64
R1864:Ttc22 UTSW 4 106636806 missense probably benign
R1886:Ttc22 UTSW 4 106636866 critical splice donor site probably null
R2136:Ttc22 UTSW 4 106622672 missense possibly damaging 0.49
R2156:Ttc22 UTSW 4 106639040 missense probably benign 0.43
R2267:Ttc22 UTSW 4 106639085 missense possibly damaging 0.60
R2698:Ttc22 UTSW 4 106639238 missense probably benign
R3162:Ttc22 UTSW 4 106623079 missense probably damaging 0.97
R3162:Ttc22 UTSW 4 106623079 missense probably damaging 0.97
R3754:Ttc22 UTSW 4 106639081 missense probably damaging 0.99
R5399:Ttc22 UTSW 4 106636757 missense probably damaging 1.00
R5839:Ttc22 UTSW 4 106638520 missense probably damaging 0.99
R6156:Ttc22 UTSW 4 106638583 missense probably benign 0.00
R6678:Ttc22 UTSW 4 106623045 missense probably benign 0.17
R6912:Ttc22 UTSW 4 106638603 missense probably benign 0.04
R7094:Ttc22 UTSW 4 106635907 nonsense probably null
Z1177:Ttc22 UTSW 4 106622523 start gained probably benign
Posted On2015-04-16