Incidental Mutation 'R8349:Clec9a'
| ID |
645418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec9a
|
| Ensembl Gene |
ENSMUSG00000046080 |
| Gene Name |
C-type lectin domain family 9, member a |
| Synonyms |
DNGR-1, 9830005G06Rik |
| MMRRC Submission |
067803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129385825-129401726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129387292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 49
(A49E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032262]
[ENSMUST00000058352]
[ENSMUST00000088075]
[ENSMUST00000164513]
[ENSMUST00000204860]
|
| AlphaFold |
Q8BRU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032262
|
| SMART Domains |
Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
CLECT
|
102 |
217 |
1.59e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058352
AA Change: A49E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056625
Gene: ENSMUSG00000046080
AA Change: A49E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
CLECT
|
137 |
256 |
8.6e-24 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088075
AA Change: A49E
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085394
Gene: ENSMUSG00000046080
AA Change: A49E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
CLECT
|
111 |
230 |
8.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164513
|
| SMART Domains |
Protein: ENSMUSP00000128622
Gene: ENSMUSG00000046080
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
110 |
229 |
8.6e-24 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204860
AA Change: A49E
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144990
Gene: ENSMUSG00000046080
AA Change: A49E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Homozygous null mice have CD8alpha+ dendritic cells that are defective in cross-presentation of dead-cell associated antigens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,885,768 (GRCm39) |
E58G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,629,302 (GRCm39) |
F4I |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,488,872 (GRCm39) |
D282G |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,503,556 (GRCm39) |
V733I |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,845,861 (GRCm39) |
D370G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,975,260 (GRCm39) |
H74R |
|
Het |
| Cntn5 |
A |
G |
9: 9,666,840 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,428 (GRCm39) |
M412T |
possibly damaging |
Het |
| Dhrs7l |
T |
C |
12: 72,659,340 (GRCm39) |
N145D |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,966,815 (GRCm39) |
Q399R |
possibly damaging |
Het |
| Fam47e |
C |
A |
5: 92,702,990 (GRCm39) |
R21S |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,694 (GRCm39) |
I150V |
probably damaging |
Het |
| Gm7361 |
T |
A |
5: 26,465,387 (GRCm39) |
M128K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,468,068 (GRCm39) |
E190K |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,940,286 (GRCm39) |
S396P |
probably damaging |
Het |
| Hrg |
T |
A |
16: 22,780,286 (GRCm39) |
S521R |
unknown |
Het |
| Itih5 |
A |
G |
2: 10,191,800 (GRCm39) |
T112A |
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,421,586 (GRCm39) |
N555I |
probably damaging |
Het |
| Morc2b |
C |
T |
17: 33,355,775 (GRCm39) |
E666K |
probably benign |
Het |
| Mup8 |
C |
A |
4: 60,222,382 (GRCm39) |
V30L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,418,593 (GRCm39) |
E268D |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,052,170 (GRCm39) |
R308L |
probably benign |
Het |
| Or10k2 |
A |
T |
8: 84,268,301 (GRCm39) |
H176L |
probably damaging |
Het |
| Or14j1 |
A |
G |
17: 38,146,561 (GRCm39) |
R224G |
probably damaging |
Het |
| Or4c10 |
A |
T |
2: 89,760,878 (GRCm39) |
I242L |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Or8k33 |
T |
G |
2: 86,383,980 (GRCm39) |
I163L |
probably benign |
Het |
| Plcd3 |
A |
G |
11: 102,965,496 (GRCm39) |
Y530H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,144,326 (GRCm39) |
E80V |
probably damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,656 (GRCm39) |
D50N |
probably benign |
Het |
| Sis |
C |
T |
3: 72,810,984 (GRCm39) |
G1679D |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
| Ston2 |
T |
C |
12: 91,608,649 (GRCm39) |
D817G |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,428 (GRCm39) |
F1431Y |
probably benign |
Het |
| Uevld |
T |
A |
7: 46,595,055 (GRCm39) |
N179I |
probably damaging |
Het |
| Utp6 |
G |
T |
11: 79,836,610 (GRCm39) |
Q375K |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,785 (GRCm39) |
E322D |
probably damaging |
Het |
| Wnt5a |
A |
G |
14: 28,235,108 (GRCm39) |
M51V |
probably benign |
Het |
| Zfp202 |
A |
T |
9: 40,118,976 (GRCm39) |
R130* |
probably null |
Het |
| Zfp949 |
G |
T |
9: 88,449,302 (GRCm39) |
V36L |
possibly damaging |
Het |
|
| Other mutations in Clec9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01676:Clec9a
|
APN |
6 |
129,398,118 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4468001:Clec9a
|
UTSW |
6 |
129,396,597 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0408:Clec9a
|
UTSW |
6 |
129,396,532 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1131:Clec9a
|
UTSW |
6 |
129,387,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Clec9a
|
UTSW |
6 |
129,387,249 (GRCm39) |
missense |
probably benign |
|
|
R1888:Clec9a
|
UTSW |
6 |
129,387,249 (GRCm39) |
missense |
probably benign |
|
|
R2085:Clec9a
|
UTSW |
6 |
129,387,274 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2095:Clec9a
|
UTSW |
6 |
129,393,321 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3418:Clec9a
|
UTSW |
6 |
129,398,001 (GRCm39) |
intron |
probably benign |
|
|
R4731:Clec9a
|
UTSW |
6 |
129,393,299 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6547:Clec9a
|
UTSW |
6 |
129,393,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7728:Clec9a
|
UTSW |
6 |
129,392,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8078:Clec9a
|
UTSW |
6 |
129,385,996 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8449:Clec9a
|
UTSW |
6 |
129,387,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9050:Clec9a
|
UTSW |
6 |
129,396,561 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9476:Clec9a
|
UTSW |
6 |
129,398,023 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9510:Clec9a
|
UTSW |
6 |
129,398,023 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGTCAGATATAGCCCATGC -3'
(R):5'- GACTGTATACCATTTACGTGTGC -3'
Sequencing Primer
(F):5'- GCCCATGCTATAAGGTTCATCTGAG -3'
(R):5'- CCATTTACGTGTGCTTACATAGATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation