Incidental Mutation 'R2972:Clec14a'
| ID |
255250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec14a
|
| Ensembl Gene |
ENSMUSG00000045930 |
| Gene Name |
C-type lectin domain family 14, member a |
| Synonyms |
1200003C23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
58311506-58316044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58314360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 421
(R421W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062254]
|
| AlphaFold |
Q8VCP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062254
AA Change: R421W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: R421W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
172 |
1.4e-5 |
SMART |
|
EGF
|
246 |
288 |
1.85e0 |
SMART |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
PHENOTYPE: No notable pheontype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Clec14a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Clec14a
|
APN |
12 |
58,315,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02109:Clec14a
|
APN |
12 |
58,314,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02121:Clec14a
|
APN |
12 |
58,315,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Clec14a
|
APN |
12 |
58,315,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Clec14a
|
APN |
12 |
58,314,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Clec14a
|
UTSW |
12 |
58,315,580 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0382:Clec14a
|
UTSW |
12 |
58,315,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Clec14a
|
UTSW |
12 |
58,314,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3796:Clec14a
|
UTSW |
12 |
58,314,695 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3797:Clec14a
|
UTSW |
12 |
58,314,695 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3876:Clec14a
|
UTSW |
12 |
58,315,430 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4602:Clec14a
|
UTSW |
12 |
58,314,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4708:Clec14a
|
UTSW |
12 |
58,314,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Clec14a
|
UTSW |
12 |
58,315,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5193:Clec14a
|
UTSW |
12 |
58,315,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Clec14a
|
UTSW |
12 |
58,315,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Clec14a
|
UTSW |
12 |
58,314,612 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6318:Clec14a
|
UTSW |
12 |
58,315,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6388:Clec14a
|
UTSW |
12 |
58,314,243 (GRCm39) |
makesense |
probably null |
|
|
R6828:Clec14a
|
UTSW |
12 |
58,315,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Clec14a
|
UTSW |
12 |
58,315,580 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7418:Clec14a
|
UTSW |
12 |
58,315,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7635:Clec14a
|
UTSW |
12 |
58,315,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Clec14a
|
UTSW |
12 |
58,314,543 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7908:Clec14a
|
UTSW |
12 |
58,314,465 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8844:Clec14a
|
UTSW |
12 |
58,315,599 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9294:Clec14a
|
UTSW |
12 |
58,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Clec14a
|
UTSW |
12 |
58,314,620 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9711:Clec14a
|
UTSW |
12 |
58,314,432 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0024:Clec14a
|
UTSW |
12 |
58,315,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGTCCCGATCCAAGAGC -3'
(R):5'- TGGGGAACACAGAGTACTTTACC -3'
Sequencing Primer
(F):5'- CGCACCCAGCCAGTGAAG -3'
(R):5'- TGGCACACCATCAGGAAGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation