Incidental Mutation 'IGL01549:Clec7a'
| ID |
90542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec7a
|
| Ensembl Gene |
ENSMUSG00000079293 |
| Gene Name |
C-type lectin domain family 7, member a |
| Synonyms |
beta-GR, BGR, Clecsf12, dectin-1, beta-glucan receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129438554-129449742 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 129449640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 3
(Y3*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112076]
[ENSMUST00000184581]
[ENSMUST00000195589]
|
| AlphaFold |
Q6QLQ4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112076
AA Change: Y3*
|
| SMART Domains |
Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: Y3*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
CLECT
|
119 |
241 |
2.01e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184581
AA Change: Y3*
|
| SMART Domains |
Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: Y3*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
69 |
N/A |
INTRINSIC |
|
CLECT
|
74 |
196 |
2.01e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184861
|
| SMART Domains |
Protein: ENSMUSP00000139162
Gene: ENSMUSG00000102040
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
CLECT
|
119 |
241 |
1e-26 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195589
AA Change: Y3*
|
| SMART Domains |
Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: Y3*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
CLECT
|
118 |
240 |
2.01e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
| Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
| Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,775,288 (GRCm39) |
R283S |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,139,117 (GRCm39) |
P533S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
| Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,329 (GRCm39) |
I276F |
probably benign |
Het |
| Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
| Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
| Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
| Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
| Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
| Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,303 (GRCm39) |
T489A |
probably benign |
Het |
| Wdr38 |
T |
G |
2: 38,890,730 (GRCm39) |
S201R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
probably damaging |
Het |
|
| Other mutations in Clec7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Clec7a
|
APN |
6 |
129,442,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Clec7a
|
APN |
6 |
129,449,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Clec7a
|
APN |
6 |
129,440,140 (GRCm39) |
splice site |
probably benign |
|
|
IGL01983:Clec7a
|
APN |
6 |
129,442,539 (GRCm39) |
splice site |
probably benign |
|
|
IGL02948:Clec7a
|
APN |
6 |
129,442,441 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1210:Clec7a
|
UTSW |
6 |
129,442,488 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1469:Clec7a
|
UTSW |
6 |
129,449,535 (GRCm39) |
splice site |
probably benign |
|
|
R2126:Clec7a
|
UTSW |
6 |
129,447,918 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2246:Clec7a
|
UTSW |
6 |
129,444,532 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2887:Clec7a
|
UTSW |
6 |
129,447,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Clec7a
|
UTSW |
6 |
129,445,877 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5928:Clec7a
|
UTSW |
6 |
129,442,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7218:Clec7a
|
UTSW |
6 |
129,445,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Clec7a
|
UTSW |
6 |
129,442,518 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9066:Clec7a
|
UTSW |
6 |
129,444,491 (GRCm39) |
missense |
probably benign |
|
|
R9425:Clec7a
|
UTSW |
6 |
129,442,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Clec7a
|
UTSW |
6 |
129,440,126 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation