Incidental Mutation 'IGL03192:Cxcr6'
| ID |
412674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cxcr6
|
| Ensembl Gene |
ENSMUSG00000048521 |
| Gene Name |
C-X-C motif chemokine receptor 6 |
| Synonyms |
STRL33, BONZO |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123635542-123640819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 123639111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 37
(K37N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049810]
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000216072]
|
| AlphaFold |
Q9EQ16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049810
AA Change: K37N
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: K37N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
57 |
297 |
5.2e-43 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084715
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
19 |
167 |
4.7e-12 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
270 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
1110 |
N/A |
INTRINSIC |
|
FYVE
|
1124 |
1191 |
2.69e-16 |
SMART |
|
PDB:1OLM|E
|
1343 |
1428 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167595
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
20 |
167 |
7.8e-12 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
270 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
1110 |
N/A |
INTRINSIC |
|
FYVE
|
1124 |
1191 |
2.69e-16 |
SMART |
|
PDB:1OLM|E
|
1343 |
1428 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216072
AA Change: K44N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A small percentage of mice that are heterozygous or homozygous for a knock-out allele develop medulloblastomas in the cerebellum after 12 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
G |
A |
3: 137,933,721 (GRCm39) |
G293S |
probably damaging |
Het |
| Ahi1 |
G |
A |
10: 20,841,534 (GRCm39) |
V274I |
probably benign |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Asb8 |
G |
A |
15: 98,033,776 (GRCm39) |
R260C |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,026,759 (GRCm39) |
H531Q |
possibly damaging |
Het |
| Clcn7 |
C |
A |
17: 25,352,575 (GRCm39) |
P42Q |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,479,922 (GRCm39) |
|
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,218,097 (GRCm39) |
L429H |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,955,660 (GRCm39) |
D208G |
possibly damaging |
Het |
| H2-T24 |
C |
T |
17: 36,326,368 (GRCm39) |
W177* |
probably null |
Het |
| Il17rc |
G |
A |
6: 113,449,846 (GRCm39) |
V151M |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,950,562 (GRCm39) |
F741S |
probably damaging |
Het |
| Neil1 |
A |
G |
9: 57,050,819 (GRCm39) |
S339P |
probably benign |
Het |
| Nptx1 |
T |
A |
11: 119,437,585 (GRCm39) |
N182I |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,076 (GRCm39) |
I32K |
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,966,717 (GRCm39) |
V723A |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,680,540 (GRCm39) |
M1047I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,653 (GRCm39) |
I15V |
probably damaging |
Het |
| Rtbdn |
T |
A |
8: 85,679,284 (GRCm39) |
S30T |
probably benign |
Het |
| Serinc4 |
G |
T |
2: 121,282,872 (GRCm39) |
S430* |
probably null |
Het |
| Slc25a33 |
A |
G |
4: 149,829,223 (GRCm39) |
I312T |
probably damaging |
Het |
| Speer3 |
A |
G |
5: 13,841,702 (GRCm39) |
R11G |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,709 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,335,073 (GRCm39) |
Y324* |
probably null |
Het |
| Wdr31 |
A |
T |
4: 62,372,149 (GRCm39) |
D322E |
possibly damaging |
Het |
| Zbtb9 |
A |
G |
17: 27,193,272 (GRCm39) |
T226A |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,657,748 (GRCm39) |
E721G |
possibly damaging |
Het |
|
| Other mutations in Cxcr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Cxcr6
|
APN |
9 |
123,639,770 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03342:Cxcr6
|
APN |
9 |
123,639,472 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Cxcr6
|
UTSW |
9 |
123,639,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0399:Cxcr6
|
UTSW |
9 |
123,640,016 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0487:Cxcr6
|
UTSW |
9 |
123,639,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1496:Cxcr6
|
UTSW |
9 |
123,639,412 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1662:Cxcr6
|
UTSW |
9 |
123,639,613 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1733:Cxcr6
|
UTSW |
9 |
123,639,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Cxcr6
|
UTSW |
9 |
123,639,022 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3055:Cxcr6
|
UTSW |
9 |
123,639,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Cxcr6
|
UTSW |
9 |
123,639,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Cxcr6
|
UTSW |
9 |
123,639,550 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3828:Cxcr6
|
UTSW |
9 |
123,639,934 (GRCm39) |
missense |
probably benign |
|
|
R4810:Cxcr6
|
UTSW |
9 |
123,639,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Cxcr6
|
UTSW |
9 |
123,639,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5748:Cxcr6
|
UTSW |
9 |
123,639,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Cxcr6
|
UTSW |
9 |
123,639,073 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6612:Cxcr6
|
UTSW |
9 |
123,639,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Cxcr6
|
UTSW |
9 |
123,639,355 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7414:Cxcr6
|
UTSW |
9 |
123,639,287 (GRCm39) |
nonsense |
probably null |
|
|
R7427:Cxcr6
|
UTSW |
9 |
123,639,305 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7428:Cxcr6
|
UTSW |
9 |
123,639,305 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7863:Cxcr6
|
UTSW |
9 |
123,639,914 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8426:Cxcr6
|
UTSW |
9 |
123,639,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Cxcr6
|
UTSW |
9 |
123,640,006 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9645:Cxcr6
|
UTSW |
9 |
123,639,151 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2016-08-02 |
Incidental Mutation