Incidental Mutation 'IGL02044:Cx3cl1'
| ID |
184882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cx3cl1
|
| Ensembl Gene |
ENSMUSG00000031778 |
| Gene Name |
C-X3-C motif chemokine ligand 1 |
| Synonyms |
D8Bwg0439e, CX3C, neurotactin, fractalkine, Scyd1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02044
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95498808-95509055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95507168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 391
(V391D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034230]
[ENSMUST00000135970]
[ENSMUST00000150307]
[ENSMUST00000211947]
[ENSMUST00000211956]
|
| AlphaFold |
O35188 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034230
AA Change: V391D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034230
Gene: ENSMUSG00000031778
AA Change: V391D
| 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 |
noncoding transcript
Transcript: ENSMUST00000151783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211956
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
| Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
| Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
| Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
| Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
| Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
| Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
| Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
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 |
|
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 |
|
R8707:Cx3cl1
|
UTSW |
8 |
95,506,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation