Incidental Mutation 'IGL01745:Chct1'
ID 152998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chct1
Ensembl Gene ENSMUSG00000018479
Gene Name CHD1 helical C-terminal domain containing 1
Synonyms 1700125H20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01745
Quality Score
Status
Chromosome 11
Chromosomal Location 85061230-85071971 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85063696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000018623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018623] [ENSMUST00000100681]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018623
AA Change: T30A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000018623
Gene: ENSMUSG00000018479
AA Change: T30A

DomainStartEndE-ValueType
DUF4208 31 134 1.43e-35 SMART
low complexity region 211 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100681
SMART Domains Protein: ENSMUSP00000098248
Gene: ENSMUSG00000018479

DomainStartEndE-ValueType
Blast:DUF4208 1 24 1e-7 BLAST
low complexity region 101 120 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc153 T G 9: 44,154,408 (GRCm39) S56R possibly damaging Het
D630045J12Rik T C 6: 38,168,655 (GRCm39) K965E probably damaging Het
F2rl1 A G 13: 95,650,261 (GRCm39) V207A probably benign Het
Matn4 A G 2: 164,242,663 (GRCm39) V145A probably damaging Het
Mllt6 T G 11: 97,567,754 (GRCm39) L757R probably damaging Het
Or2at4 A G 7: 99,384,595 (GRCm39) T82A probably damaging Het
Or5g26 T C 2: 85,493,921 (GRCm39) N286D possibly damaging Het
Or5m3b T A 2: 85,872,381 (GRCm39) S241T possibly damaging Het
Prrc2c A G 1: 162,552,297 (GRCm39) S30P probably damaging Het
Setd2 T C 9: 110,423,779 (GRCm39) V2278A probably damaging Het
Slco4a1 G A 2: 180,106,472 (GRCm39) C218Y probably damaging Het
Vps35 A T 8: 86,000,092 (GRCm39) probably benign Het
Zfp593 A G 4: 133,972,355 (GRCm39) S82P probably damaging Het
Other mutations in Chct1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Chct1 APN 11 85,069,138 (GRCm39) missense probably damaging 0.97
R0178:Chct1 UTSW 11 85,069,264 (GRCm39) missense probably benign 0.09
R1614:Chct1 UTSW 11 85,063,690 (GRCm39) missense possibly damaging 0.46
R3161:Chct1 UTSW 11 85,064,110 (GRCm39) missense probably damaging 0.98
R5707:Chct1 UTSW 11 85,064,138 (GRCm39) missense probably benign 0.39
R5796:Chct1 UTSW 11 85,064,101 (GRCm39) missense probably null 0.77
R6033:Chct1 UTSW 11 85,069,198 (GRCm39) missense probably damaging 1.00
R6033:Chct1 UTSW 11 85,069,198 (GRCm39) missense probably damaging 1.00
R8829:Chct1 UTSW 11 85,062,037 (GRCm39) missense probably damaging 0.98
R8832:Chct1 UTSW 11 85,062,037 (GRCm39) missense probably damaging 0.98
R8970:Chct1 UTSW 11 85,069,246 (GRCm39) missense probably benign
X0066:Chct1 UTSW 11 85,069,175 (GRCm39) missense probably benign 0.05
Posted On 2014-02-04