Incidental Mutation 'R2287:Clec4f'
| ID |
244152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4f
|
| Ensembl Gene |
ENSMUSG00000014542 |
| Gene Name |
C-type lectin domain family 4, member f |
| Synonyms |
kupffer cell receptor, D18063, Clecsf13 |
| MMRRC Submission |
040286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2287 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83621524-83633098 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTT to CT
at 83630247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014686]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014686
|
| SMART Domains |
Protein: ENSMUSP00000014686
Gene: ENSMUSG00000014542
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dis3l |
T |
A |
9: 64,214,779 (GRCm39) |
Q930L |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,555,279 (GRCm39) |
K275E |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,097,469 (GRCm39) |
I193V |
possibly damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,528,830 (GRCm39) |
N428S |
possibly damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,982,117 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,246,317 (GRCm39) |
|
probably null |
Het |
| Ndufa8 |
C |
T |
2: 35,926,554 (GRCm39) |
A161T |
probably benign |
Het |
| Nlrp14 |
A |
T |
7: 106,781,869 (GRCm39) |
L355F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,622,172 (GRCm39) |
I1047T |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,560,458 (GRCm39) |
W169* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,517,001 (GRCm39) |
D94G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,182 (GRCm39) |
Y1643* |
probably null |
Het |
| Skint4 |
A |
G |
4: 111,975,402 (GRCm39) |
T121A |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,407,109 (GRCm39) |
I3133V |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 103,910,262 (GRCm39) |
S355T |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,603,045 (GRCm39) |
N276H |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,387,163 (GRCm39) |
V1175A |
probably damaging |
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 |
|
IGL01112:Clec4f
|
APN |
6 |
83,630,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCTCCAGATTCCTTCAG -3'
(R):5'- AGGATCACTCAAAGCTGTGTG -3'
Sequencing Primer
(F):5'- CAGCACATCTTTTGTCTGCAGGATG -3'
(R):5'- TGAAGCCCACATTCATGGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation