Incidental Mutation 'R3828:Cxcr6'
| ID |
273852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcr6
|
| Ensembl Gene |
ENSMUSG00000048521 |
| Gene Name |
C-X-C motif chemokine receptor 6 |
| Synonyms |
STRL33, BONZO |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123635542-123640819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123639934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 319
(M319L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049810]
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000216072]
|
| AlphaFold |
Q9EQ16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049810
AA Change: M312L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: M312L
| 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: M319L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
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 |
|
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 |
|
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'- TGCTCGAAACTTCCAGAAGC -3'
(R):5'- AGCCATGCTCCTAGAATTCTG -3'
Sequencing Primer
(F):5'- AAGATCATCTTCCTTGTAGTGGC -3'
(R):5'- CTGTTATTAACTTCTCTAAGTGTGGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation