Incidental Mutation 'IGL02298:Clec2m'
ID |
290228 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clec2m
|
Ensembl Gene |
ENSMUSG00000047720 |
Gene Name |
C-type lectin domain family 2, member m |
Synonyms |
4922502D21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL02298
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129299127-129308759 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 129308527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051283]
|
AlphaFold |
Q8C634 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051283
AA Change: M1L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000062024 Gene: ENSMUSG00000047720 AA Change: M1L
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
CLECT
|
71 |
183 |
1.32e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203159
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,580,044 (GRCm39) |
S2053P |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,263,633 (GRCm39) |
E125K |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,225,175 (GRCm39) |
D24V |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,607,322 (GRCm39) |
E2638K |
probably damaging |
Het |
Fbxw5 |
G |
A |
2: 25,394,456 (GRCm39) |
W143* |
probably null |
Het |
Galk2 |
T |
C |
2: 125,701,290 (GRCm39) |
S5P |
probably benign |
Het |
Gtf2h2 |
A |
G |
13: 100,617,547 (GRCm39) |
V205A |
probably damaging |
Het |
Helb |
C |
A |
10: 119,937,431 (GRCm39) |
Q604H |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,440,783 (GRCm39) |
|
probably null |
Het |
Map7d1 |
T |
C |
4: 126,127,714 (GRCm39) |
E675G |
unknown |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Shc4 |
T |
C |
2: 125,491,074 (GRCm39) |
H488R |
probably damaging |
Het |
Speer1d |
T |
G |
5: 11,307,158 (GRCm39) |
L12R |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,309,364 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,812,002 (GRCm39) |
N904K |
probably damaging |
Het |
|
Other mutations in Clec2m |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02053:Clec2m
|
APN |
6 |
129,303,725 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03350:Clec2m
|
APN |
6 |
129,307,986 (GRCm39) |
missense |
probably benign |
0.07 |
R0178:Clec2m
|
UTSW |
6 |
129,303,786 (GRCm39) |
missense |
probably benign |
0.01 |
R0270:Clec2m
|
UTSW |
6 |
129,302,571 (GRCm39) |
nonsense |
probably null |
|
R0414:Clec2m
|
UTSW |
6 |
129,303,813 (GRCm39) |
unclassified |
probably benign |
|
R0648:Clec2m
|
UTSW |
6 |
129,307,932 (GRCm39) |
missense |
probably benign |
0.03 |
R1065:Clec2m
|
UTSW |
6 |
129,300,013 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2075:Clec2m
|
UTSW |
6 |
129,303,666 (GRCm39) |
missense |
probably benign |
0.01 |
R6163:Clec2m
|
UTSW |
6 |
129,303,710 (GRCm39) |
missense |
probably benign |
0.00 |
R7092:Clec2m
|
UTSW |
6 |
129,299,963 (GRCm39) |
missense |
probably benign |
0.12 |
R7107:Clec2m
|
UTSW |
6 |
129,299,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R7360:Clec2m
|
UTSW |
6 |
129,303,710 (GRCm39) |
missense |
probably benign |
0.00 |
R7369:Clec2m
|
UTSW |
6 |
129,308,496 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7414:Clec2m
|
UTSW |
6 |
129,302,596 (GRCm39) |
missense |
probably benign |
0.17 |
R7937:Clec2m
|
UTSW |
6 |
129,307,974 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8345:Clec2m
|
UTSW |
6 |
129,302,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8402:Clec2m
|
UTSW |
6 |
129,300,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8814:Clec2m
|
UTSW |
6 |
129,302,567 (GRCm39) |
intron |
probably benign |
|
R8862:Clec2m
|
UTSW |
6 |
129,308,494 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Clec2m
|
UTSW |
6 |
129,303,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |