Incidental Mutation 'R3056:Cxcr6'
| ID |
265182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcr6
|
| Ensembl Gene |
ENSMUSG00000048521 |
| Gene Name |
C-X-C motif chemokine receptor 6 |
| Synonyms |
STRL33, BONZO |
| MMRRC Submission |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123635542-123640819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123639529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 177
(I177F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049810]
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000216072]
|
| AlphaFold |
Q9EQ16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049810
AA Change: I177F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: I177F
| 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 |
possibly damaging
Transcript: ENSMUST00000216072
AA Change: I184F
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.2774 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
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 |
|
IGL03192:Cxcr6
|
APN |
9 |
123,639,111 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTATGAGTGGGTCTTTGGC -3'
(R):5'- GGAAGTTTCGAGCATGAAGC -3'
Sequencing Primer
(F):5'- TGTGCAAAACTCTTCGAGGC -3'
(R):5'- CAAGGTCTTGATAATGCCTGAGTAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation