Incidental Mutation 'R2474:Cxcl13'
ID |
253263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cxcl13
|
Ensembl Gene |
ENSMUSG00000023078 |
Gene Name |
C-X-C motif chemokine ligand 13 |
Synonyms |
Scyb13, 4631412M08Rik, BCA-1, ANGIE2, BLC |
MMRRC Submission |
040405-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2474 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
96104810-96108927 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 96107816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 91
(Q91*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023840]
|
AlphaFold |
O55038 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023840
AA Change: Q91*
|
SMART Domains |
Protein: ENSMUSP00000023840 Gene: ENSMUSG00000023078 AA Change: Q91*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCY
|
29 |
90 |
4.14e-11 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014] PHENOTYPE: B lymphocyte trafficking is impaired in homozygous mutant mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
probably damaging |
Het |
|
Other mutations in Cxcl13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
ice
|
UTSW |
5 |
96,106,530 (GRCm39) |
missense |
probably damaging |
1.00 |
pick
|
UTSW |
5 |
96,106,586 (GRCm39) |
missense |
probably benign |
0.13 |
Sleet
|
UTSW |
5 |
96,104,861 (GRCm39) |
missense |
unknown |
|
R0709:Cxcl13
|
UTSW |
5 |
96,106,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Cxcl13
|
UTSW |
5 |
96,106,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R4746:Cxcl13
|
UTSW |
5 |
96,107,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5278:Cxcl13
|
UTSW |
5 |
96,106,586 (GRCm39) |
missense |
probably benign |
0.13 |
R5457:Cxcl13
|
UTSW |
5 |
96,104,830 (GRCm39) |
start codon destroyed |
unknown |
|
R8055:Cxcl13
|
UTSW |
5 |
96,107,763 (GRCm39) |
missense |
probably benign |
0.08 |
R8854:Cxcl13
|
UTSW |
5 |
96,104,861 (GRCm39) |
missense |
unknown |
|
R9421:Cxcl13
|
UTSW |
5 |
96,107,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAATAGTCTTCTTGTTCCTCAGGC -3'
(R):5'- CTGCTGTGCACACTAGCTTC -3'
Sequencing Primer
(F):5'- GTTCCTCAGGCCTCACACCAC -3'
(R):5'- GTGCACACTAGCTTCAGTTTAC -3'
|
Posted On |
2014-12-04 |