Incidental Mutation 'IGL01112:Clec4f'
| ID |
51332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4f
|
| Ensembl Gene |
ENSMUSG00000014542 |
| Gene Name |
C-type lectin domain family 4, member f |
| Synonyms |
kupffer cell receptor, D18063, Clecsf13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83621524-83633098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83630182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 125
(I125M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014686]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014686
AA Change: I125M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000014686
Gene: ENSMUSG00000014542
AA Change: I125M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
coiled coil region
|
99 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
CLECT
|
412 |
537 |
5.4e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137647
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired IFN-gamma secretion from Kupffer cells stimulated with alpha-GalCer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
C |
7: 144,190,882 (GRCm39) |
I401V |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,932 (GRCm39) |
|
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,410,637 (GRCm39) |
D103V |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,507 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
A |
G |
7: 126,049,479 (GRCm39) |
V521A |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,883,062 (GRCm39) |
D1603E |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,227,679 (GRCm39) |
I520V |
probably benign |
Het |
| Eomes |
G |
A |
9: 118,311,334 (GRCm39) |
A386T |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,135,913 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
G |
T |
5: 121,445,013 (GRCm39) |
M1420I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,508,303 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
G |
A |
12: 114,355,335 (GRCm39) |
T118I |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,453,958 (GRCm39) |
F250S |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,576 (GRCm39) |
T27A |
probably benign |
Het |
| Mex3b |
T |
A |
7: 82,518,911 (GRCm39) |
S409T |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,745 (GRCm39) |
I39N |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,235 (GRCm39) |
|
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,922 (GRCm39) |
S192P |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,704,636 (GRCm39) |
M888K |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,731,083 (GRCm39) |
H3195L |
unknown |
Het |
| Pgm2 |
A |
T |
5: 64,260,225 (GRCm39) |
I137F |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,360,793 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,354,459 (GRCm39) |
M180T |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,123 (GRCm39) |
F165L |
possibly damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,059 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
A |
T |
14: 40,854,527 (GRCm39) |
N38I |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,152,977 (GRCm39) |
F137S |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,219,093 (GRCm39) |
R284L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,703 (GRCm39) |
R26730Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,808 (GRCm39) |
R25732S |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,082 (GRCm39) |
V41A |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,751,367 (GRCm39) |
Q230L |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,074,467 (GRCm39) |
E532G |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,972,769 (GRCm39) |
N454K |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,132 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,566,776 (GRCm39) |
C76S |
probably benign |
Het |
|
| Other mutations in Clec4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Clec4f
|
APN |
6 |
83,630,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02638:Clec4f
|
APN |
6 |
83,629,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0054:Clec4f
|
UTSW |
6 |
83,629,911 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0054:Clec4f
|
UTSW |
6 |
83,629,911 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0124:Clec4f
|
UTSW |
6 |
83,629,335 (GRCm39) |
splice site |
probably null |
|
|
R0528:Clec4f
|
UTSW |
6 |
83,629,776 (GRCm39) |
nonsense |
probably null |
|
|
R0894:Clec4f
|
UTSW |
6 |
83,629,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1722:Clec4f
|
UTSW |
6 |
83,623,915 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2171:Clec4f
|
UTSW |
6 |
83,629,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2287:Clec4f
|
UTSW |
6 |
83,630,247 (GRCm39) |
frame shift |
probably null |
|
|
R4296:Clec4f
|
UTSW |
6 |
83,629,557 (GRCm39) |
nonsense |
probably null |
|
|
R4468:Clec4f
|
UTSW |
6 |
83,629,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Clec4f
|
UTSW |
6 |
83,622,264 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4967:Clec4f
|
UTSW |
6 |
83,633,012 (GRCm39) |
start codon destroyed |
probably null |
0.28 |
|
R6013:Clec4f
|
UTSW |
6 |
83,632,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6182:Clec4f
|
UTSW |
6 |
83,622,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6330:Clec4f
|
UTSW |
6 |
83,629,850 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7337:Clec4f
|
UTSW |
6 |
83,630,190 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8166:Clec4f
|
UTSW |
6 |
83,629,624 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8698:Clec4f
|
UTSW |
6 |
83,630,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Clec4f
|
UTSW |
6 |
83,630,099 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1177:Clec4f
|
UTSW |
6 |
83,622,203 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2013-06-21 |
Incidental Mutation