Incidental Mutation 'R6773:Cxcr6'
| ID |
532255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcr6
|
| Ensembl Gene |
ENSMUSG00000048521 |
| Gene Name |
C-X-C motif chemokine receptor 6 |
| Synonyms |
STRL33, BONZO |
| MMRRC Submission |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123635542-123640819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123639355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 119
(T119S)
|
| 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: T119S
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: T119S
| 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: T126S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.4476 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
C |
5: 96,242,158 (GRCm39) |
C188W |
probably damaging |
Het |
| Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
| Gpr153 |
T |
A |
4: 152,363,757 (GRCm39) |
V59E |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,300,622 (GRCm39) |
V369A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,370,435 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
| Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,876 (GRCm39) |
K193E |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
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 |
|
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 |
|
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'- TGCTAGGAAACTCCCTGGTTC -3'
(R):5'- CCTCACTGTGGTACTGACAG -3'
Sequencing Primer
(F):5'- GAAACTCCCTGGTTCTGATTATATAC -3'
(R):5'- CCTCACTGTGGTACTGACAGATAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation