Incidental Mutation 'IGL02206:Ttc22'
ID284465
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: 0.060) question?
Stock #IGL02206
Quality Score
Status
Chromosome4
Chromosomal Location106622432-106640189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106635989 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 278 (T278A)
Ref Sequence ENSEMBL: ENSMUSP00000035773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047922]
Predicted Effect probably damaging
Transcript: ENSMUST00000047922
AA Change: T278A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: T278A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G 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
IGL02219:Ttc22 APN 4 106638490 missense probably damaging 0.97
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