Incidental Mutation 'IGL02211:Cxcl16'
| ID |
284709 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cxcl16
|
| Ensembl Gene |
ENSMUSG00000018920 |
| Gene Name |
C-X-C motif chemokine ligand 16 |
| Synonyms |
SR-PSOX/CXCL16, Scavenger Receptor, 0910001K24Rik, SR-PSOX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70345215-70350810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70346858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 95
(H95R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019064]
[ENSMUST00000019067]
[ENSMUST00000039093]
[ENSMUST00000092958]
[ENSMUST00000108563]
[ENSMUST00000126105]
[ENSMUST00000126391]
[ENSMUST00000151013]
[ENSMUST00000147289]
|
| AlphaFold |
Q8BSU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019064
AA Change: H108R
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920
AA Change: H108R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Blast:SCY
|
32 |
94 |
1e-17 |
BLAST |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019067
|
| SMART Domains |
Protein: ENSMUSP00000019067
Gene: ENSMUSG00000018923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med11
|
7 |
116 |
2.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039093
|
| SMART Domains |
Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
307 |
353 |
6.7e-12 |
PFAM |
|
low complexity region
|
438 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092958
|
| SMART Domains |
Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
306 |
352 |
6.5e-11 |
PFAM |
|
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108563
|
| SMART Domains |
Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
177 |
223 |
2.5e-11 |
PFAM |
|
low complexity region
|
308 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126105
|
| SMART Domains |
Protein: ENSMUSP00000134599
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126391
AA Change: H95R
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
AA Change: H95R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCY
|
19 |
81 |
3e-18 |
BLAST |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151013
|
| SMART Domains |
Protein: ENSMUSP00000134323
Gene: ENSMUSG00000018923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med11
|
8 |
126 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147289
|
| SMART Domains |
Protein: ENSMUSP00000136813
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
| Other mutations in Cxcl16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02867:Cxcl16
|
APN |
11 |
70,349,892 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4472001:Cxcl16
|
UTSW |
11 |
70,349,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Cxcl16
|
UTSW |
11 |
70,349,596 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0415:Cxcl16
|
UTSW |
11 |
70,349,574 (GRCm39) |
nonsense |
probably null |
|
|
R0732:Cxcl16
|
UTSW |
11 |
70,346,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0759:Cxcl16
|
UTSW |
11 |
70,349,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4359:Cxcl16
|
UTSW |
11 |
70,349,631 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4609:Cxcl16
|
UTSW |
11 |
70,346,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Cxcl16
|
UTSW |
11 |
70,346,519 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4964:Cxcl16
|
UTSW |
11 |
70,346,519 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5724:Cxcl16
|
UTSW |
11 |
70,349,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7427:Cxcl16
|
UTSW |
11 |
70,349,630 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8518:Cxcl16
|
UTSW |
11 |
70,346,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Cxcl16
|
UTSW |
11 |
70,346,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation