Incidental Mutation 'IGL03217:Ccl4'
| ID |
413508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccl4
|
| Ensembl Gene |
ENSMUSG00000018930 |
| Gene Name |
C-C motif chemokine ligand 4 |
| Synonyms |
MIP-1B, MIP-1 beta, Mip1b, AT744.1, Act-2, Scya4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83553410-83555509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83553504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019074]
|
| AlphaFold |
P14097 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000019074
AA Change: S6P
|
| SMART Domains |
Protein: ENSMUSP00000019074
Gene: ENSMUSG00000018930
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
SCY
|
31 |
89 |
9.92e-32 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,272,262 (GRCm39) |
P640L |
possibly damaging |
Het |
| Cd300lf |
T |
A |
11: 115,015,117 (GRCm39) |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,945,778 (GRCm39) |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,501,201 (GRCm39) |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,035 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,619,418 (GRCm39) |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,295 (GRCm39) |
S170P |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,529 (GRCm39) |
M536K |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,856,281 (GRCm39) |
I287V |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,065,039 (GRCm39) |
D17G |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,567,432 (GRCm39) |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,955 (GRCm39) |
D750G |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,875 (GRCm39) |
E490K |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,428,172 (GRCm39) |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,853,223 (GRCm39) |
S352P |
probably damaging |
Het |
| Spart |
G |
T |
3: 55,035,912 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,737,947 (GRCm39) |
T45A |
possibly damaging |
Het |
| Tat |
G |
A |
8: 110,721,818 (GRCm39) |
V242I |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,251,714 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0302:Ccl4
|
UTSW |
11 |
83,554,280 (GRCm39) |
splice site |
probably benign |
|
|
R0328:Ccl4
|
UTSW |
11 |
83,554,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1342:Ccl4
|
UTSW |
11 |
83,554,402 (GRCm39) |
splice site |
probably benign |
|
|
R2894:Ccl4
|
UTSW |
11 |
83,554,329 (GRCm39) |
splice site |
probably null |
|
|
R4934:Ccl4
|
UTSW |
11 |
83,553,504 (GRCm39) |
missense |
unknown |
|
|
R6334:Ccl4
|
UTSW |
11 |
83,553,504 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation