Incidental Mutation 'R3901:Clec7a'
| ID |
308979 |
| 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 |
040810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129438554-129449742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129445877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 98
(S98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112076]
[ENSMUST00000184581]
[ENSMUST00000195589]
|
| AlphaFold |
Q6QLQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112076
AA Change: S98P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
CLECT
|
119 |
241 |
2.01e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184581
|
| SMART Domains |
Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
| 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 |
possibly damaging
Transcript: ENSMUST00000195589
AA Change: S98P
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
CLECT
|
118 |
240 |
2.01e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
| Csrnp1 |
C |
T |
9: 119,801,707 (GRCm39) |
E451K |
probably damaging |
Het |
| Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,969,208 (GRCm39) |
Y163F |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
| Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 119,999,085 (GRCm39) |
S760G |
probably benign |
Het |
| Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,728,435 (GRCm39) |
T28S |
probably damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
probably benign |
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 |
|
R2887:Clec7a
|
UTSW |
6 |
129,447,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGTGATGCCACTTTACCAGC -3'
(R):5'- AAATATGAGTGCTGGCATTTCC -3'
Sequencing Primer
(F):5'- GATGCCACTTTACCAGCTGTCTG -3'
(R):5'- GAGTGCTGGCATTTCCATTTTTAAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation