Incidental Mutation 'R3827:Cx3cl1'
| ID |
273808 |
| 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 |
040775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.6%
- 20x: 96.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
| Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
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 |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
| Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
| Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
| Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAGGACACTCTGCTGGAG -3'
(R):5'- AAGTCAAGGGCTCAGCAATC -3'
Sequencing Primer
(F):5'- TAGATCAGAGGTTCTCACCCATGG -3'
(R):5'- GGGCTCAGCAATCACCCTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation