Incidental Mutation 'R6361:Clec18a'
| ID |
535636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec18a
|
| Ensembl Gene |
ENSMUSG00000033633 |
| Gene Name |
C-type lectin domain family 18, member A |
| Synonyms |
Mrcl |
| MMRRC Submission |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111796128-111819056 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 111807661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039597]
[ENSMUST00000186384]
[ENSMUST00000188466]
[ENSMUST00000190222]
[ENSMUST00000190778]
[ENSMUST00000191030]
[ENSMUST00000191469]
|
| AlphaFold |
Q7TSQ1 |
| Predicted Effect |
silent
Transcript: ENSMUST00000039597
|
| SMART Domains |
Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
| 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
|
| 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 |
probably benign
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 |
unknown
Transcript: ENSMUST00000190778
AA Change: L106P
|
| SMART Domains |
Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633
AA Change: L106P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
silent
Transcript: ENSMUST00000191469
|
| SMART Domains |
Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
| Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
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 |
|
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 |
|
|
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'- AGTTGGGTCTACTCACCATTC -3'
(R):5'- TTCTAGTCCAGGGCTGAGTC -3'
Sequencing Primer
(F):5'- CATTCTCTGCATGTTGGCTGCAG -3'
(R):5'- AGTCCAGGGCTGAGTCATTCATTAC -3'
|
| Posted On |
2018-09-14 |
Incidental Mutation