Incidental Mutation 'R8706:Cx3cl1'
ID |
669276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cx3cl1
|
Ensembl Gene |
ENSMUSG00000031778 |
Gene Name |
C-X3-C motif chemokine ligand 1 |
Synonyms |
D8Bwg0439e, CX3C, neurotactin, fractalkine, Scyd1 |
MMRRC Submission |
068560-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8706 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95498808-95509055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95506876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 294
(T294A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034230]
[ENSMUST00000135970]
[ENSMUST00000150307]
[ENSMUST00000211947]
[ENSMUST00000211956]
|
AlphaFold |
O35188 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034230
AA Change: T294A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034230 Gene: ENSMUSG00000031778 AA Change: T294A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCY
|
29 |
89 |
4.23e-17 |
SMART |
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
transmembrane domain
|
341 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150307
|
SMART Domains |
Protein: ENSMUSP00000123538 Gene: ENSMUSG00000031778
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211956
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in Gr1(low) monocyte levels, and increased neuronal cell loss in a neurotoxin (MPTP)-induced model of Parkinson disease. Mice homozygous for a different knock-out allele are less susceptible to cerebral ischemia-reperfusion injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
Adra2b |
A |
G |
2: 127,206,487 (GRCm39) |
T335A |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
Ccdc142 |
A |
G |
6: 83,080,678 (GRCm39) |
E470G |
probably damaging |
Het |
Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
Kmt5c |
G |
T |
7: 4,749,153 (GRCm39) |
R262L |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Mrps27 |
T |
C |
13: 99,541,508 (GRCm39) |
V163A |
probably damaging |
Het |
Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,644,404 (GRCm39) |
S147C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
Het |
|
Other mutations in Cx3cl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01720:Cx3cl1
|
APN |
8 |
95,504,701 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02044:Cx3cl1
|
APN |
8 |
95,507,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Cx3cl1
|
APN |
8 |
95,506,660 (GRCm39) |
missense |
probably benign |
|
R1749:Cx3cl1
|
UTSW |
8 |
95,506,789 (GRCm39) |
splice site |
probably null |
|
R1876:Cx3cl1
|
UTSW |
8 |
95,507,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:Cx3cl1
|
UTSW |
8 |
95,506,687 (GRCm39) |
missense |
probably benign |
0.03 |
R2131:Cx3cl1
|
UTSW |
8 |
95,506,201 (GRCm39) |
missense |
probably benign |
0.03 |
R3547:Cx3cl1
|
UTSW |
8 |
95,504,752 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3826:Cx3cl1
|
UTSW |
8 |
95,503,934 (GRCm39) |
intron |
probably benign |
|
R3827:Cx3cl1
|
UTSW |
8 |
95,503,934 (GRCm39) |
intron |
probably benign |
|
R3828:Cx3cl1
|
UTSW |
8 |
95,503,934 (GRCm39) |
intron |
probably benign |
|
R3829:Cx3cl1
|
UTSW |
8 |
95,503,934 (GRCm39) |
intron |
probably benign |
|
R4461:Cx3cl1
|
UTSW |
8 |
95,507,184 (GRCm39) |
makesense |
probably null |
|
R4705:Cx3cl1
|
UTSW |
8 |
95,506,835 (GRCm39) |
missense |
probably benign |
0.32 |
R4998:Cx3cl1
|
UTSW |
8 |
95,507,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R5165:Cx3cl1
|
UTSW |
8 |
95,506,504 (GRCm39) |
missense |
probably benign |
0.04 |
R7150:Cx3cl1
|
UTSW |
8 |
95,506,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Cx3cl1
|
UTSW |
8 |
95,506,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R8346:Cx3cl1
|
UTSW |
8 |
95,507,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Cx3cl1
|
UTSW |
8 |
95,506,443 (GRCm39) |
missense |
probably benign |
0.43 |
R8707:Cx3cl1
|
UTSW |
8 |
95,506,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACCTTCAACCCCAGAGG -3'
(R):5'- CTGAAGGCTCTGGTAAGCAAAC -3'
Sequencing Primer
(F):5'- CTTCAACCCCAGAGGAAAATGTTGG -3'
(R):5'- GCTCTGGTAAGCAAACATGGCC -3'
|
Posted On |
2021-04-30 |