Incidental Mutation 'R2887:Clec7a'
| ID |
261083 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129438554-129449742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129447960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 35
(G35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112076]
[ENSMUST00000184581]
[ENSMUST00000195589]
|
| AlphaFold |
Q6QLQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112076
AA Change: G35E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: G35E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
CLECT
|
119 |
241 |
2.01e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184581
AA Change: G35E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: G35E
| 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 damaging
Transcript: ENSMUST00000195589
AA Change: G35E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: G35E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
CLECT
|
118 |
240 |
2.01e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,235,341 (GRCm39) |
T214A |
probably benign |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,122 (GRCm39) |
I7F |
probably benign |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,549 (GRCm39) |
H399R |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,052 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
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 |
|
IGL01549:Clec7a
|
APN |
6 |
129,449,640 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTCTTTTGACTCTGCAAG -3'
(R):5'- AGGCATCCTGAAGTTGGAGG -3'
Sequencing Primer
(F):5'- CCAAGCCCTTGAGAGAGTTCTTG -3'
(R):5'- CATCCTGAAGTTGGAGGAAAATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation