Incidental Mutation 'R5862:Clec18a'
| ID |
453969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec18a
|
| Ensembl Gene |
ENSMUSG00000033633 |
| Gene Name |
C-type lectin domain family 18, member A |
| Synonyms |
Mrcl |
| MMRRC Submission |
043231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R5862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111796128-111819056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111808190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 71
(H71Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140703
(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: H71Y
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: H71Y
| 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 |
possibly damaging
Transcript: ENSMUST00000186384
AA Change: H71Y
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000188466
|
| SMART Domains |
Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
| 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 |
silent
Transcript: ENSMUST00000190222
|
| SMART Domains |
Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
| 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 |
silent
Transcript: ENSMUST00000190778
|
| SMART Domains |
Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000191030
|
| SMART Domains |
Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
| 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: H71Y
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: H71Y
| 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: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
| Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
| Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
| Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
| Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
| Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
| Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
| Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
| Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
| Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
| Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
| Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
| Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
| Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
| Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
| Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
| Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
| Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
| Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
|
R5848:Clec18a
|
UTSW |
8 |
111,802,093 (GRCm39) |
missense |
probably benign |
0.24 |
|
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'- CAGCATAACACAGGGCTCAG -3'
(R):5'- TTGAAGTCAGTGCACCAAGG -3'
Sequencing Primer
(F):5'- AGGGCTCAGTCCTGGGTAC -3'
(R):5'- AGCTTAGCCTGACTCCGAGAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation