Incidental Mutation 'IGL00976:Clhc1'
ID |
28650 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clhc1
|
Ensembl Gene |
ENSMUSG00000020461 |
Gene Name |
clathrin heavy chain linker domain containing 1 |
Synonyms |
1700034F02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL00976
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
29497950-29528360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29511389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 278
(D278N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020753]
[ENSMUST00000208530]
|
AlphaFold |
Q5M6W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020753
AA Change: D289N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000020753 Gene: ENSMUSG00000020461 AA Change: D289N
Domain | Start | End | E-Value | Type |
Pfam:TSNAXIP1_N
|
28 |
152 |
2.6e-26 |
PFAM |
Pfam:Clathrin_H_link
|
302 |
365 |
3.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131366
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208530
AA Change: D278N
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
Other mutations in Clhc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Clhc1
|
APN |
11 |
29,521,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01826:Clhc1
|
APN |
11 |
29,503,765 (GRCm39) |
splice site |
probably null |
|
IGL02029:Clhc1
|
APN |
11 |
29,510,798 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02479:Clhc1
|
APN |
11 |
29,528,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R0553:Clhc1
|
UTSW |
11 |
29,511,366 (GRCm39) |
splice site |
probably benign |
|
R1313:Clhc1
|
UTSW |
11 |
29,521,678 (GRCm39) |
missense |
probably benign |
|
R1313:Clhc1
|
UTSW |
11 |
29,521,678 (GRCm39) |
missense |
probably benign |
|
R1482:Clhc1
|
UTSW |
11 |
29,503,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Clhc1
|
UTSW |
11 |
29,519,287 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1742:Clhc1
|
UTSW |
11 |
29,507,647 (GRCm39) |
splice site |
probably null |
|
R2094:Clhc1
|
UTSW |
11 |
29,507,771 (GRCm39) |
missense |
probably benign |
0.13 |
R2130:Clhc1
|
UTSW |
11 |
29,507,663 (GRCm39) |
missense |
probably benign |
0.33 |
R2237:Clhc1
|
UTSW |
11 |
29,519,329 (GRCm39) |
missense |
probably benign |
0.30 |
R3814:Clhc1
|
UTSW |
11 |
29,521,826 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3854:Clhc1
|
UTSW |
11 |
29,521,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Clhc1
|
UTSW |
11 |
29,521,826 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4659:Clhc1
|
UTSW |
11 |
29,528,229 (GRCm39) |
makesense |
probably null |
|
R5021:Clhc1
|
UTSW |
11 |
29,510,627 (GRCm39) |
missense |
probably benign |
0.01 |
R5246:Clhc1
|
UTSW |
11 |
29,525,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Clhc1
|
UTSW |
11 |
29,528,244 (GRCm39) |
utr 3 prime |
probably benign |
|
R5657:Clhc1
|
UTSW |
11 |
29,511,431 (GRCm39) |
missense |
probably benign |
0.03 |
R5771:Clhc1
|
UTSW |
11 |
29,513,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6050:Clhc1
|
UTSW |
11 |
29,511,397 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6211:Clhc1
|
UTSW |
11 |
29,528,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Clhc1
|
UTSW |
11 |
29,510,542 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6615:Clhc1
|
UTSW |
11 |
29,528,149 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6944:Clhc1
|
UTSW |
11 |
29,519,346 (GRCm39) |
missense |
probably damaging |
0.97 |
R7252:Clhc1
|
UTSW |
11 |
29,513,937 (GRCm39) |
missense |
probably benign |
0.01 |
R7860:Clhc1
|
UTSW |
11 |
29,507,651 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8221:Clhc1
|
UTSW |
11 |
29,503,751 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8259:Clhc1
|
UTSW |
11 |
29,503,746 (GRCm39) |
missense |
probably benign |
0.37 |
R8769:Clhc1
|
UTSW |
11 |
29,511,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R8931:Clhc1
|
UTSW |
11 |
29,510,533 (GRCm39) |
nonsense |
probably null |
|
R9752:Clhc1
|
UTSW |
11 |
29,507,778 (GRCm39) |
missense |
probably benign |
0.13 |
X0023:Clhc1
|
UTSW |
11 |
29,519,305 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-04-17 |