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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |