Incidental Mutation 'IGL01514:Clec2g'
| ID |
89300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec2g
|
| Ensembl Gene |
ENSMUSG00000000248 |
| Gene Name |
C-type lectin domain family 2, member g |
| Synonyms |
Ocilrp1, 4632413B12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128911344-128961670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128925736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 48
(M48I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000254]
|
| AlphaFold |
Q9D676 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000254
AA Change: M48I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000000254
Gene: ENSMUSG00000000248
AA Change: M48I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_C
|
3 |
108 |
2.4e-6 |
PFAM |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
CLECT
|
143 |
254 |
9.36e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146925
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,094,653 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
| Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
| Gars1 |
T |
A |
6: 55,042,505 (GRCm39) |
S413T |
probably benign |
Het |
| Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,578,217 (GRCm39) |
L91I |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
| Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
| Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
| Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
| Pard6g |
G |
A |
18: 80,160,661 (GRCm39) |
R258H |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
| Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clec2g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Clec2g
|
APN |
6 |
128,957,144 (GRCm39) |
splice site |
probably null |
|
|
IGL00901:Clec2g
|
APN |
6 |
128,925,655 (GRCm39) |
splice site |
probably benign |
|
|
IGL01367:Clec2g
|
APN |
6 |
128,925,699 (GRCm39) |
missense |
unknown |
|
|
IGL02742:Clec2g
|
APN |
6 |
128,957,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0069:Clec2g
|
UTSW |
6 |
128,957,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0069:Clec2g
|
UTSW |
6 |
128,925,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0368:Clec2g
|
UTSW |
6 |
128,957,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1809:Clec2g
|
UTSW |
6 |
128,957,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1813:Clec2g
|
UTSW |
6 |
128,925,660 (GRCm39) |
missense |
unknown |
|
|
R2866:Clec2g
|
UTSW |
6 |
128,925,719 (GRCm39) |
missense |
probably benign |
|
|
R4080:Clec2g
|
UTSW |
6 |
128,958,287 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4732:Clec2g
|
UTSW |
6 |
128,958,842 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Clec2g
|
UTSW |
6 |
128,958,842 (GRCm39) |
nonsense |
probably null |
|
|
R4906:Clec2g
|
UTSW |
6 |
128,956,411 (GRCm39) |
missense |
probably benign |
|
|
R5014:Clec2g
|
UTSW |
6 |
128,925,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5220:Clec2g
|
UTSW |
6 |
128,958,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Clec2g
|
UTSW |
6 |
128,925,714 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6155:Clec2g
|
UTSW |
6 |
128,957,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Clec2g
|
UTSW |
6 |
128,959,895 (GRCm39) |
splice site |
probably null |
|
|
R6372:Clec2g
|
UTSW |
6 |
128,925,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7678:Clec2g
|
UTSW |
6 |
128,956,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7821:Clec2g
|
UTSW |
6 |
128,925,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Clec2g
|
UTSW |
6 |
128,958,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8909:Clec2g
|
UTSW |
6 |
128,958,195 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9010:Clec2g
|
UTSW |
6 |
128,925,688 (GRCm39) |
missense |
unknown |
|
|
R9781:Clec2g
|
UTSW |
6 |
128,960,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-12-03 |
Incidental Mutation