Incidental Mutation 'IGL03289:Clec2e'
| ID |
415818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec2e
|
| Ensembl Gene |
ENSMUSG00000030155 |
| Gene Name |
C-type lectin domain family 2, member e |
| Synonyms |
Clra |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL03289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129068961-129077876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129075418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 41
(I41N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032258]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032258
AA Change: I41N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032258
Gene: ENSMUSG00000030155
AA Change: I41N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
CLECT
|
89 |
200 |
1.03e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
| Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
| Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
| Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
| Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
Het |
|
| Other mutations in Clec2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01785:Clec2e
|
APN |
6 |
129,070,364 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02529:Clec2e
|
APN |
6 |
129,075,459 (GRCm39) |
splice site |
probably benign |
|
|
IGL03242:Clec2e
|
APN |
6 |
129,071,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Clec2e
|
UTSW |
6 |
129,072,181 (GRCm39) |
splice site |
probably null |
|
|
R0390:Clec2e
|
UTSW |
6 |
129,070,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Clec2e
|
UTSW |
6 |
129,070,459 (GRCm39) |
nonsense |
probably null |
|
|
R1468:Clec2e
|
UTSW |
6 |
129,070,459 (GRCm39) |
nonsense |
probably null |
|
|
R1477:Clec2e
|
UTSW |
6 |
129,072,163 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3721:Clec2e
|
UTSW |
6 |
129,071,373 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Clec2e
|
UTSW |
6 |
129,077,790 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5589:Clec2e
|
UTSW |
6 |
129,075,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6056:Clec2e
|
UTSW |
6 |
129,077,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6156:Clec2e
|
UTSW |
6 |
129,072,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7762:Clec2e
|
UTSW |
6 |
129,072,091 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8024:Clec2e
|
UTSW |
6 |
129,071,388 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8973:Clec2e
|
UTSW |
6 |
129,070,374 (GRCm39) |
nonsense |
probably null |
|
|
R9299:Clec2e
|
UTSW |
6 |
129,072,092 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9420:Clec2e
|
UTSW |
6 |
129,071,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9644:Clec2e
|
UTSW |
6 |
129,070,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation