Incidental Mutation 'IGL03176:Clec4g'
| ID |
411989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4g
|
| Ensembl Gene |
ENSMUSG00000074491 |
| Gene Name |
C-type lectin domain family 4, member g |
| Synonyms |
4930572L20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3757064-3770651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3768441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 97
(V97M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000062037
AA Change: V97M
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059574
Gene: ENSMUSG00000074491
AA Change: V97M
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
| Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
| Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
| Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
| Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
| Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
| Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
| Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
| Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
| Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
| Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
probably benign |
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 |
|
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 |
|
|
R5370:Clec4g
|
UTSW |
8 |
3,768,344 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation