Incidental Mutation 'R2246:Clec7a'
| ID |
240857 |
| 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 |
040246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129438554-129449742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129444532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 101
(H101L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112076]
[ENSMUST00000184581]
[ENSMUST00000195589]
|
| AlphaFold |
Q6QLQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112076
AA Change: H146L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: H146L
| 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
AA Change: H101L
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: H101L
| 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 benign
Transcript: ENSMUST00000195589
AA Change: H146L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: H146L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
CLECT
|
118 |
240 |
2.01e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
G |
6: 85,599,949 (GRCm39) |
S1592A |
possibly damaging |
Het |
| Anapc16 |
G |
T |
10: 59,832,298 (GRCm39) |
Y38* |
probably null |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,661 (GRCm39) |
D331G |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,731,376 (GRCm39) |
T618A |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
T |
1: 71,667,694 (GRCm39) |
D766E |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,121 (GRCm39) |
*395W |
probably null |
Het |
| Grik2 |
C |
T |
10: 49,411,532 (GRCm39) |
R202H |
probably damaging |
Het |
| Hcls1 |
G |
T |
16: 36,782,984 (GRCm39) |
S445I |
probably damaging |
Het |
| Hip1 |
A |
C |
5: 135,481,698 (GRCm39) |
S166R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
A |
1: 172,319,216 (GRCm39) |
S236R |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,902,708 (GRCm39) |
P1470S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,251,432 (GRCm39) |
H675Q |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,195 (GRCm39) |
S49T |
probably benign |
Het |
| Or6c3b |
A |
G |
10: 129,527,812 (GRCm39) |
Y33H |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,330,169 (GRCm39) |
D236G |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,674,333 (GRCm39) |
K332R |
probably benign |
Het |
| Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
| Pramel11 |
A |
G |
4: 143,623,790 (GRCm39) |
V128A |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,535,360 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,638 (GRCm39) |
G473S |
probably damaging |
Het |
| Shisal1 |
T |
A |
15: 84,301,400 (GRCm39) |
H81L |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,582,723 (GRCm39) |
Y222N |
probably damaging |
Het |
| Slc38a7 |
A |
T |
8: 96,570,468 (GRCm39) |
M269K |
probably damaging |
Het |
| Srrd |
A |
T |
5: 112,487,622 (GRCm39) |
L159H |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,427,775 (GRCm39) |
S218Y |
possibly damaging |
Het |
| Tex15 |
G |
A |
8: 34,072,540 (GRCm39) |
V2696I |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,651 (GRCm39) |
T1030I |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,751,190 (GRCm39) |
|
probably null |
Het |
| Try4 |
C |
T |
6: 41,282,406 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,518 (GRCm39) |
V191I |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,764 (GRCm39) |
Y747C |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,466,058 (GRCm39) |
P439S |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,931,592 (GRCm39) |
M514L |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,691,361 (GRCm39) |
D1180G |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,461 (GRCm39) |
D790E |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,329 (GRCm39) |
K537R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAAGCCCCAAAATTGC -3'
(R):5'- AGGTACTCATGAAAATGCACTAAG -3'
Sequencing Primer
(F):5'- AGCCCCAAAATTGCTTATTTTAAAG -3'
(R):5'- TCATGCATGGGAAGAGCT -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation