Incidental Mutation 'IGL01704:Cct8l1'
ID 104532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct8l1
Ensembl Gene ENSMUSG00000038044
Gene Name chaperonin containing TCP1 subunit 8-like 1
Synonyms LOC242891, Gm443
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # IGL01704
Quality Score
Status
Chromosome 5
Chromosomal Location 25721065-25723025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25722097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 271 (S271T)
Ref Sequence ENSEMBL: ENSMUSP00000044932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045016]
AlphaFold Q80YT3
Predicted Effect probably benign
Transcript: ENSMUST00000045016
AA Change: S271T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000044932
Gene: ENSMUSG00000038044
AA Change: S271T

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 52 533 6.3e-116 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brsk1 A G 7: 4,707,260 (GRCm39) E271G probably benign Het
Card9 A G 2: 26,246,874 (GRCm39) F325L probably benign Het
Clca3a2 A G 3: 144,800,979 (GRCm39) Y125H probably benign Het
Csn1s2b T G 5: 87,960,970 (GRCm39) S25R probably damaging Het
Dnmt1 C T 9: 20,821,476 (GRCm39) V1227I probably damaging Het
Fpr1 G A 17: 18,097,234 (GRCm39) R252W possibly damaging Het
Gm15155 T A X: 155,086,252 (GRCm39) D69E unknown Het
Hltf T C 3: 20,137,910 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,056,692 (GRCm39) I130V possibly damaging Het
Klra9 G T 6: 130,166,744 (GRCm39) S40* probably null Het
Ldoc1 C A X: 60,753,537 (GRCm39) Y74* probably null Het
Lias G T 5: 65,562,673 (GRCm39) V318F probably damaging Het
Mtss1 A G 15: 58,926,932 (GRCm39) V48A possibly damaging Het
Myo9b C T 8: 71,812,286 (GRCm39) P2019L probably damaging Het
Ogdhl T C 14: 32,059,588 (GRCm39) probably benign Het
Or5b97 T C 19: 12,879,103 (GRCm39) I14V probably benign Het
Parp4 A G 14: 56,839,783 (GRCm39) D497G probably damaging Het
Pcnx3 T C 19: 5,717,504 (GRCm39) D1535G probably damaging Het
Pcx G T 19: 4,671,088 (GRCm39) K1103N probably damaging Het
Pdgfd G A 9: 6,337,327 (GRCm39) V220M probably damaging Het
Pola2 A G 19: 5,992,047 (GRCm39) S542P probably damaging Het
Ppip5k1 G A 2: 121,142,555 (GRCm39) T1278M possibly damaging Het
Pramel11 C T 4: 143,622,201 (GRCm39) D385N probably benign Het
Ralgapb T C 2: 158,262,795 (GRCm39) V11A possibly damaging Het
Rhox2f T A X: 36,753,634 (GRCm39) V124E probably benign Het
Rnf213 T C 11: 119,340,702 (GRCm39) probably null Het
Slc38a10 T C 11: 120,041,913 (GRCm39) probably benign Het
Smco1 T C 16: 32,092,704 (GRCm39) V125A probably benign Het
Tg A T 15: 66,543,200 (GRCm39) Q38L probably damaging Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Vmn2r97 T C 17: 19,168,073 (GRCm39) F776L probably damaging Het
Zranb3 A C 1: 127,895,676 (GRCm39) V724G possibly damaging Het
Other mutations in Cct8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Cct8l1 APN 5 25,721,836 (GRCm39) missense probably benign 0.05
IGL02322:Cct8l1 APN 5 25,722,581 (GRCm39) missense probably benign 0.00
G1citation:Cct8l1 UTSW 5 25,722,937 (GRCm39) missense possibly damaging 0.95
R1478:Cct8l1 UTSW 5 25,722,767 (GRCm39) missense probably benign 0.09
R1764:Cct8l1 UTSW 5 25,722,097 (GRCm39) missense possibly damaging 0.85
R1772:Cct8l1 UTSW 5 25,722,697 (GRCm39) missense probably damaging 0.99
R2680:Cct8l1 UTSW 5 25,722,133 (GRCm39) missense probably benign 0.24
R3153:Cct8l1 UTSW 5 25,722,137 (GRCm39) missense probably damaging 1.00
R4773:Cct8l1 UTSW 5 25,722,754 (GRCm39) missense probably benign 0.40
R4937:Cct8l1 UTSW 5 25,721,891 (GRCm39) missense probably benign 0.37
R5071:Cct8l1 UTSW 5 25,721,881 (GRCm39) missense probably benign 0.00
R5072:Cct8l1 UTSW 5 25,721,881 (GRCm39) missense probably benign 0.00
R5073:Cct8l1 UTSW 5 25,721,881 (GRCm39) missense probably benign 0.00
R5074:Cct8l1 UTSW 5 25,721,881 (GRCm39) missense probably benign 0.00
R5432:Cct8l1 UTSW 5 25,721,305 (GRCm39) missense possibly damaging 0.93
R5507:Cct8l1 UTSW 5 25,721,377 (GRCm39) missense probably benign
R5603:Cct8l1 UTSW 5 25,721,497 (GRCm39) missense probably benign 0.39
R5950:Cct8l1 UTSW 5 25,722,741 (GRCm39) missense probably benign
R6822:Cct8l1 UTSW 5 25,722,937 (GRCm39) missense possibly damaging 0.95
R8171:Cct8l1 UTSW 5 25,721,552 (GRCm39) missense probably damaging 1.00
R8808:Cct8l1 UTSW 5 25,722,210 (GRCm39) missense possibly damaging 0.71
R8902:Cct8l1 UTSW 5 25,722,908 (GRCm39) missense probably benign 0.00
R9368:Cct8l1 UTSW 5 25,721,336 (GRCm39) missense probably benign 0.09
Posted On 2014-01-21