Incidental Mutation 'IGL01593:Clec4g'
ID |
91668 |
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 # |
IGL01593
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
3757064-3770651 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 3769474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000062037
|
SMART Domains |
Protein: ENSMUSP00000059574 Gene: ENSMUSG00000074491
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably 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 |
|
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 |
|
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 |
2013-12-09 |