Incidental Mutation 'R8402:Clec2m'
| ID |
652230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec2m
|
| Ensembl Gene |
ENSMUSG00000047720 |
| Gene Name |
C-type lectin domain family 2, member m |
| Synonyms |
4922502D21Rik |
| MMRRC Submission |
067878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129299127-129308759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129300007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 157
(D157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051283]
|
| AlphaFold |
Q8C634 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051283
AA Change: D157V
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062024
Gene: ENSMUSG00000047720
AA Change: D157V
| 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
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,376 (GRCm39) |
K579N |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,035,363 (GRCm39) |
V89A |
probably benign |
Het |
| Anapc1 |
G |
A |
2: 128,472,148 (GRCm39) |
S1458L |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,949 (GRCm39) |
Y325C |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,688,467 (GRCm39) |
Y437C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,413,879 (GRCm39) |
S806T |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,888 (GRCm39) |
T85A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,011,393 (GRCm39) |
W1183* |
probably null |
Het |
| Dmxl1 |
G |
T |
18: 50,011,409 (GRCm39) |
V1189L |
probably benign |
Het |
| Dmxl1 |
G |
C |
18: 50,011,394 (GRCm39) |
D1184H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,116,197 (GRCm39) |
D820G |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,750,972 (GRCm39) |
S289P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,378,131 (GRCm39) |
W116R |
probably damaging |
Het |
| Galnt7 |
G |
A |
8: 57,995,953 (GRCm39) |
A355V |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,867,962 (GRCm39) |
F45V |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,103,185 (GRCm39) |
V661A |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,750 (GRCm39) |
N517S |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,716 (GRCm39) |
I145M |
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,713 (GRCm39) |
Y118F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,904,715 (GRCm39) |
F368L |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,164,440 (GRCm39) |
V417E |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,385 (GRCm39) |
A1375E |
probably benign |
Het |
| Rps24 |
G |
T |
14: 24,540,829 (GRCm39) |
|
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,949 (GRCm39) |
N259D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,037 (GRCm39) |
N628K |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,351,774 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,177,731 (GRCm39) |
L508Q |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,946,359 (GRCm39) |
S360P |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,424,718 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,617 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,204,879 (GRCm39) |
E121G |
probably damaging |
Het |
| Zfp607b |
T |
A |
7: 27,402,127 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zfp729b |
G |
A |
13: 67,740,696 (GRCm39) |
P523L |
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 |
|
IGL02298:Clec2m
|
APN |
6 |
129,308,527 (GRCm39) |
start codon destroyed |
probably benign |
0.09 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGATGGAAAGGAATACACATCAC -3'
(R):5'- TAGGAGCATAGAGTCCCAGG -3'
Sequencing Primer
(F):5'- CAGACAAAACGAGACACTGCTCTTC -3'
(R):5'- CCAGGCCATGCTGCTTTTTAGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation