Incidental Mutation 'R8707:Cx3cl1'
ID |
669306 |
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 |
068561-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8707 (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 T
at 95506375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 127
(T127S)
|
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: T127S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034230 Gene: ENSMUSG00000031778 AA Change: T127S
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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Igfals |
C |
A |
17: 25,099,185 (GRCm39) |
A92E |
possibly damaging |
Het |
Inppl1 |
G |
A |
7: 101,478,903 (GRCm39) |
A33V |
|
Het |
Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,552,875 (GRCm39) |
Y199C |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
Rad54l |
A |
G |
4: 115,954,533 (GRCm39) |
V690A |
probably benign |
Het |
Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,412,965 (GRCm39) |
T116A |
probably benign |
Het |
Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
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 |
R8706:Cx3cl1
|
UTSW |
8 |
95,506,876 (GRCm39) |
missense |
probably benign |
0.21 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCTAGAATCTGGGCATCAC -3'
(R):5'- TCCAATGCTCTGAGGCTTAGC -3'
Sequencing Primer
(F):5'- TCCTTATAGCCTGGAGACGAC -3'
(R):5'- TAGCCGTAAGCCCTGCATC -3'
|
Posted On |
2021-04-30 |