Incidental Mutation 'IGL01718:Ttc22'
ID105004
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 #IGL01718
Quality Score
Status
Chromosome4
Chromosomal Location106622432-106640189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106638576 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 376 (V376M)
Ref Sequence ENSEMBL: ENSMUSP00000035773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047922]
Predicted Effect probably damaging
Transcript: ENSMUST00000047922
AA Change: V376M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: V376M

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 A G 7: 66,400,205 F422L possibly damaging Het
Ap2m1 T C 16: 20,542,194 probably benign Het
Asic1 A G 15: 99,672,002 Y68C probably damaging Het
Ccdc18 A G 5: 108,201,348 D1002G possibly damaging Het
Cyp2c29 A T 19: 39,330,260 I434F possibly damaging Het
Diaph3 T A 14: 86,656,338 R78S unknown Het
Dnase1l2 T C 17: 24,441,716 D188G possibly damaging Het
Exosc9 T C 3: 36,553,929 probably benign Het
Fgf23 G A 6: 127,080,473 V251I probably benign Het
Fndc3c1 T C X: 106,445,928 T296A probably benign Het
Gm5592 A G 7: 41,289,193 E633G probably damaging Het
Gm7102 A G 19: 61,175,761 S79P probably damaging Het
Gpr155 T C 2: 73,382,232 M16V probably benign Het
Jakmip3 T G 7: 138,989,392 S2A possibly damaging Het
Lrba T A 3: 86,351,248 N1347K probably damaging Het
Mars T C 10: 127,305,838 R266G possibly damaging Het
Mrgpra1 A T 7: 47,335,927 probably null Het
Olfr835 T A 9: 19,035,288 L55* probably null Het
Pdzk1ip1 T A 4: 115,092,914 probably benign Het
Ppid G T 3: 79,593,679 C52F probably damaging Het
Reln A G 5: 21,947,514 I2318T possibly damaging Het
Rhpn2 G A 7: 35,370,754 D146N probably benign Het
Tspoap1 G T 11: 87,780,255 R1670L possibly damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Zfp609 G A 9: 65,702,400 Q1094* probably null Het
Zfp831 C T 2: 174,643,838 T102I possibly damaging Het
Zglp1 C T 9: 21,063,379 C171Y probably benign Het
Other mutations in Ttc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2014-01-21