Incidental Mutation 'R2283:Clec18a'
| ID |
243215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec18a
|
| Ensembl Gene |
ENSMUSG00000033633 |
| Gene Name |
C-type lectin domain family 18, member A |
| Synonyms |
Mrcl |
| MMRRC Submission |
040282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R2283 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111796128-111819056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111802140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039597]
[ENSMUST00000186384]
[ENSMUST00000188466]
[ENSMUST00000190222]
[ENSMUST00000190778]
[ENSMUST00000191030]
[ENSMUST00000191469]
|
| AlphaFold |
Q7TSQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039597
AA Change: V283A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: V283A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
SCP
|
130 |
278 |
5.76e-19 |
SMART |
|
EGF
|
312 |
349 |
5.32e-1 |
SMART |
|
EGF_like
|
351 |
380 |
4.83e1 |
SMART |
|
CLECT
|
385 |
521 |
4.65e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188466
AA Change: V222A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: V222A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
53 |
N/A |
INTRINSIC |
|
SCP
|
69 |
217 |
2.8e-21 |
SMART |
|
EGF
|
251 |
288 |
2.6e-3 |
SMART |
|
EGF_like
|
290 |
319 |
2.4e-1 |
SMART |
|
CLECT
|
324 |
460 |
2.3e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190222
AA Change: V222A
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: V222A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
53 |
N/A |
INTRINSIC |
|
SCP
|
69 |
217 |
2.8e-21 |
SMART |
|
EGF
|
251 |
288 |
2.6e-3 |
SMART |
|
EGF_like
|
290 |
319 |
2.4e-1 |
SMART |
|
Pfam:Lectin_C
|
343 |
418 |
1.7e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190778
|
| SMART Domains |
Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191030
AA Change: V253A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: V253A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
80 |
N/A |
INTRINSIC |
|
SCP
|
100 |
248 |
5.76e-19 |
SMART |
|
EGF
|
282 |
319 |
5.32e-1 |
SMART |
|
EGF_like
|
321 |
350 |
4.83e1 |
SMART |
|
CLECT
|
355 |
491 |
4.65e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191469
AA Change: V283A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: V283A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
SCP
|
130 |
278 |
5.76e-19 |
SMART |
|
EGF
|
312 |
349 |
5.32e-1 |
SMART |
|
EGF_like
|
351 |
380 |
4.83e1 |
SMART |
|
CLECT
|
385 |
521 |
4.65e-20 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
| Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
| Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
| Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
| Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
| Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
| Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
| St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
| Other mutations in Clec18a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Clec18a
|
APN |
8 |
111,798,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Clec18a
|
UTSW |
8 |
111,802,768 (GRCm39) |
splice site |
probably benign |
|
|
R1251:Clec18a
|
UTSW |
8 |
111,808,270 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1528:Clec18a
|
UTSW |
8 |
111,805,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1994:Clec18a
|
UTSW |
8 |
111,808,234 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4458:Clec18a
|
UTSW |
8 |
111,802,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Clec18a
|
UTSW |
8 |
111,798,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Clec18a
|
UTSW |
8 |
111,800,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Clec18a
|
UTSW |
8 |
111,802,093 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5862:Clec18a
|
UTSW |
8 |
111,808,190 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6052:Clec18a
|
UTSW |
8 |
111,805,448 (GRCm39) |
nonsense |
probably null |
|
|
R6361:Clec18a
|
UTSW |
8 |
111,807,661 (GRCm39) |
intron |
probably benign |
|
|
R6786:Clec18a
|
UTSW |
8 |
111,807,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7220:Clec18a
|
UTSW |
8 |
111,808,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8074:Clec18a
|
UTSW |
8 |
111,798,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8157:Clec18a
|
UTSW |
8 |
111,798,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Clec18a
|
UTSW |
8 |
111,807,551 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8309:Clec18a
|
UTSW |
8 |
111,808,689 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8945:Clec18a
|
UTSW |
8 |
111,808,201 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9433:Clec18a
|
UTSW |
8 |
111,808,322 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTAGACTGCTAGTGCCCAC -3'
(R):5'- CCTGCTCAGAGGGATTGATAC -3'
Sequencing Primer
(F):5'- TGCTAGTGCCCACGCCAG -3'
(R):5'- CTCAGAGGGATTGATACAAAGTCATC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation