Incidental Mutation 'R3828:Cx3cl1'
ID |
273851 |
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 |
040886-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3828 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95498808-95509055 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 95503934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034230]
[ENSMUST00000135970]
[ENSMUST00000150307]
[ENSMUST00000150307]
[ENSMUST00000150307]
[ENSMUST00000211947]
[ENSMUST00000211956]
|
AlphaFold |
O35188 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034230
|
SMART Domains |
Protein: ENSMUSP00000034230 Gene: ENSMUSG00000031778
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: 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: ENSMUST00000150307
|
SMART Domains |
Protein: ENSMUSP00000123538 Gene: ENSMUSG00000031778
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151783
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211956
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
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 |
|
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 |
R8707:Cx3cl1
|
UTSW |
8 |
95,506,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGATAGGACACTCTGCTGG -3'
(R):5'- TCAAGGGCTCAGCAATCACC -3'
Sequencing Primer
(F):5'- TAGATCAGAGGTTCTCACCCATGG -3'
(R):5'- GCTCAGCAATCACCCTACACATG -3'
|
Posted On |
2015-04-02 |