Incidental Mutation 'R5370:Clec4g'
| ID |
478328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4g
|
| Ensembl Gene |
ENSMUSG00000074491 |
| Gene Name |
C-type lectin domain family 4, member g |
| Synonyms |
4930572L20Rik |
| MMRRC Submission |
042947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
3757064-3770651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3768344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 129
(R129L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058040]
[ENSMUST00000062037]
|
| AlphaFold |
Q8BNX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062037
AA Change: R129L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000059574
Gene: ENSMUSG00000074491
AA Change: R129L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
153 |
N/A |
INTRINSIC |
|
CLECT
|
165 |
288 |
8.85e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160527
|
| SMART Domains |
Protein: ENSMUSP00000124493
Gene: ENSMUSG00000074491
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
2 |
97 |
7.75e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased intrahepatic T cell immunity, enhanced immune-mediated liver injury during Con A-induced experimental acute hepatitis, and accelerated CTL-dependent adenovirus clearance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
| Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,243,470 (GRCm39) |
C167S |
probably damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,329 (GRCm39) |
M191L |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,148,433 (GRCm39) |
D735G |
possibly damaging |
Het |
| Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
| Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,734,339 (GRCm39) |
I382L |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
| Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
| Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
possibly damaging |
Het |
|
| Other mutations in Clec4g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Clec4g
|
APN |
8 |
3,766,410 (GRCm39) |
intron |
probably benign |
|
|
IGL01090:Clec4g
|
APN |
8 |
3,769,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01331:Clec4g
|
APN |
8 |
3,767,190 (GRCm39) |
splice site |
probably benign |
|
|
IGL01593:Clec4g
|
APN |
8 |
3,769,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02942:Clec4g
|
APN |
8 |
3,768,356 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03176:Clec4g
|
APN |
8 |
3,768,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
bluedog
|
UTSW |
8 |
3,768,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0071:Clec4g
|
UTSW |
8 |
3,767,489 (GRCm39) |
start gained |
probably benign |
|
|
R0379:Clec4g
|
UTSW |
8 |
3,768,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4571:Clec4g
|
UTSW |
8 |
3,768,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4854:Clec4g
|
UTSW |
8 |
3,766,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Clec4g
|
UTSW |
8 |
3,766,419 (GRCm39) |
intron |
probably benign |
|
|
R4886:Clec4g
|
UTSW |
8 |
3,766,419 (GRCm39) |
intron |
probably benign |
|
|
R5390:Clec4g
|
UTSW |
8 |
3,768,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6522:Clec4g
|
UTSW |
8 |
3,768,803 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6737:Clec4g
|
UTSW |
8 |
3,757,716 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7097:Clec4g
|
UTSW |
8 |
3,769,518 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7834:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Clec4g
|
UTSW |
8 |
3,757,990 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9297:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Clec4g
|
UTSW |
8 |
3,768,371 (GRCm39) |
missense |
probably null |
1.00 |
|
R9318:Clec4g
|
UTSW |
8 |
3,766,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Clec4g
|
UTSW |
8 |
3,767,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9526:Clec4g
|
UTSW |
8 |
3,768,565 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9682:Clec4g
|
UTSW |
8 |
3,757,713 (GRCm39) |
missense |
unknown |
|
|
Z1088:Clec4g
|
UTSW |
8 |
3,766,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Clec4g
|
UTSW |
8 |
3,757,796 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACGTGGCGGTTTCAGTTAC -3'
(R):5'- ACTTGAAAGTTGAGGGGCTG -3'
Sequencing Primer
(F):5'- GCGGTTTCAGTTACTCCAGAAAGC -3'
(R):5'- TTGAGGGGCTGGGAAATGG -3'
|
| Posted On |
2017-06-23 |
Incidental Mutation