Incidental Mutation 'R5848:Clec18a'
| ID |
453721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec18a
|
| Ensembl Gene |
ENSMUSG00000033633 |
| Gene Name |
C-type lectin domain family 18, member A |
| Synonyms |
Mrcl |
| MMRRC Submission |
043225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R5848 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111796128-111819056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111802093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 299
(V299I)
|
| 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: V299I
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: V299I
| 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: V238I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: V238I
| 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: V238I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: V238I
| 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: V269I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: V269I
| 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: V299I
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: V299I
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Aadacl4 |
T |
A |
4: 144,344,428 (GRCm39) |
M68K |
probably benign |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,770 (GRCm39) |
H259L |
possibly damaging |
Het |
| Ckap4 |
T |
C |
10: 84,369,354 (GRCm39) |
Q126R |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,451 (GRCm39) |
I27T |
possibly damaging |
Het |
| Dlg2 |
T |
G |
7: 92,093,735 (GRCm39) |
D726E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,947,165 (GRCm39) |
I1856T |
possibly damaging |
Het |
| Espl1 |
G |
A |
15: 102,231,011 (GRCm39) |
V1837I |
probably benign |
Het |
| Fanca |
G |
T |
8: 124,021,792 (GRCm39) |
|
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,428,016 (GRCm39) |
T437A |
probably benign |
Het |
| Gm10644 |
C |
A |
8: 84,660,668 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
A |
G |
8: 95,825,340 (GRCm39) |
S635G |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,670 (GRCm39) |
V234A |
possibly damaging |
Het |
| Mks1 |
A |
G |
11: 87,747,696 (GRCm39) |
N193S |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,223 (GRCm39) |
E151G |
probably damaging |
Het |
| Napg |
A |
G |
18: 63,127,440 (GRCm39) |
R265G |
possibly damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,507 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
| Or6e1 |
A |
G |
14: 54,520,022 (GRCm39) |
F110S |
possibly damaging |
Het |
| P3r3urf |
T |
C |
4: 116,030,812 (GRCm39) |
I72T |
probably damaging |
Het |
| Pcdha7 |
G |
T |
18: 37,108,136 (GRCm39) |
C387F |
probably damaging |
Het |
| Pcdhb3 |
G |
T |
18: 37,434,700 (GRCm39) |
R222L |
probably benign |
Het |
| Phf2 |
A |
G |
13: 48,973,546 (GRCm39) |
M373T |
unknown |
Het |
| Plekha7 |
T |
C |
7: 115,739,634 (GRCm39) |
T636A |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rnf6 |
G |
A |
5: 146,147,959 (GRCm39) |
P353L |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,342,150 (GRCm39) |
L357V |
possibly damaging |
Het |
| Sh3rf3 |
T |
A |
10: 58,819,975 (GRCm39) |
M262K |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,776,950 (GRCm39) |
H994L |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,503,922 (GRCm39) |
C411S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,593,682 (GRCm39) |
K20653E |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,708,908 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,611,264 (GRCm39) |
W15677R |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,267,581 (GRCm39) |
M1049V |
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 |
|
R2283:Clec18a
|
UTSW |
8 |
111,802,140 (GRCm39) |
missense |
probably benign |
0.33 |
|
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 |
|
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'- TGATTCTGAGAAGGGGCCTC -3'
(R):5'- AGGTGCTAAGGTGACCCATGAG -3'
Sequencing Primer
(F):5'- TCCTTCCAGCCAGTCAGG -3'
(R):5'- AGGGAGCCAGGAGCCATTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation