Incidental Mutation 'R3118:Cxcl1'
| ID |
263121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcl1
|
| Ensembl Gene |
ENSMUSG00000029380 |
| Gene Name |
C-X-C motif chemokine ligand 1 |
| Synonyms |
N51, Fsp, KC, KC/GRO-alpha, Scyb1, Gro1, Mgsa |
| MMRRC Submission |
040591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3118 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
91039100-91040974 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 91039454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031327]
|
| AlphaFold |
P12850 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031327
|
| SMART Domains |
Protein: ENSMUSP00000031327
Gene: ENSMUSG00000029380
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SCY
|
30 |
90 |
1.01e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201245
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This secretory protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils. In mouse, deficiency of this gene is associated with colitis and with defects in immune cell recruitment to the lung. [provided by RefSeq, Apr 2013]
PHENOTYPE: Targeted mutations in this gene when combine with targeted mutation of Ldlr decreases susceptibility to atherosclerotic lesions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,826,827 (GRCm39) |
V228A |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
| Fam241b |
A |
T |
10: 61,944,635 (GRCm39) |
*121R |
probably null |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
| Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,693 (GRCm39) |
Y243H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
probably benign |
Het |
|
| Other mutations in Cxcl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Cxcl1
|
APN |
5 |
91,039,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01585:Cxcl1
|
APN |
5 |
91,039,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01731:Cxcl1
|
APN |
5 |
91,039,436 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0973:Cxcl1
|
UTSW |
5 |
91,039,626 (GRCm39) |
nonsense |
probably null |
|
|
R0973:Cxcl1
|
UTSW |
5 |
91,039,626 (GRCm39) |
nonsense |
probably null |
|
|
R0974:Cxcl1
|
UTSW |
5 |
91,039,626 (GRCm39) |
nonsense |
probably null |
|
|
R5114:Cxcl1
|
UTSW |
5 |
91,039,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7111:Cxcl1
|
UTSW |
5 |
91,039,182 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCAGCACTCCAGACTC -3'
(R):5'- CTGAACCAAGGGAGCTTCAG -3'
Sequencing Primer
(F):5'- ACAGGTAGGTCTCGCCACTG -3'
(R):5'- TTCAGGGTCAAGGCAAGCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation