Incidental Mutation 'R4359:Cxcl16'
| ID |
324819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcl16
|
| Ensembl Gene |
ENSMUSG00000018920 |
| Gene Name |
C-X-C motif chemokine ligand 16 |
| Synonyms |
SR-PSOX/CXCL16, Scavenger Receptor, 0910001K24Rik, SR-PSOX |
| MMRRC Submission |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70345215-70350810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70349631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 65
(V65L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019064]
[ENSMUST00000039093]
[ENSMUST00000092958]
[ENSMUST00000108563]
[ENSMUST00000126105]
[ENSMUST00000126391]
[ENSMUST00000147289]
|
| AlphaFold |
Q8BSU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019064
AA Change: V78L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920
AA Change: V78L
| 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: 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: V65L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
AA Change: V65L
| 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: ENSMUST00000136029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154475
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,609,300 (GRCm39) |
V768A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,020 (GRCm39) |
W233R |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,385,470 (GRCm39) |
W506* |
probably null |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
probably damaging |
Het |
|
| Other mutations in Cxcl16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Cxcl16
|
APN |
11 |
70,346,858 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCAAATCCAGGAAGATG -3'
(R):5'- CAAGTCCCGGAGCCTAATTC -3'
Sequencing Primer
(F):5'- ATGATATTGGGAAAACACAGACTG -3'
(R):5'- AAGTCCCGGAGCCTAATTCCTTTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation