Incidental Mutation 'R2371:Colec10'
| ID |
247539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colec10
|
| Ensembl Gene |
ENSMUSG00000038591 |
| Gene Name |
collectin sub-family member 10 |
| Synonyms |
CL-L1 |
| MMRRC Submission |
040351-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2371 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
54274170-54329754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54325796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 209
(I209V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036737]
|
| AlphaFold |
Q8CF98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036737
AA Change: I209V
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: I209V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
44 |
96 |
1.4e-9 |
PFAM |
|
Pfam:Collagen
|
65 |
123 |
4.3e-10 |
PFAM |
|
CLECT
|
148 |
271 |
1.09e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227121
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
| 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-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,431,893 (GRCm39) |
E1105V |
probably benign |
Het |
| Cttnbp2 |
T |
G |
6: 18,380,603 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Dcst1 |
C |
G |
3: 89,265,949 (GRCm39) |
V179L |
possibly damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fgl2 |
A |
T |
5: 21,580,816 (GRCm39) |
Y386F |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,691 (GRCm39) |
Y183C |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,068,926 (GRCm39) |
L245P |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,482,910 (GRCm39) |
I132K |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,258,277 (GRCm39) |
D262E |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,828,778 (GRCm39) |
T376I |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,107,323 (GRCm39) |
L1592P |
probably damaging |
Het |
| Kif3b |
T |
C |
2: 153,164,743 (GRCm39) |
I587T |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,697 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Lvrn |
T |
G |
18: 47,011,230 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
C |
A |
2: 119,841,261 (GRCm39) |
Q83K |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,044 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,579 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,039,991 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,100,513 (GRCm39) |
F215L |
probably benign |
Het |
| Rtcb |
C |
T |
10: 85,779,697 (GRCm39) |
M324I |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,125 (GRCm39) |
I125V |
possibly damaging |
Het |
| Shroom3 |
A |
G |
5: 92,928,729 (GRCm39) |
K95E |
probably damaging |
Het |
| Wrnip1 |
C |
T |
13: 32,986,410 (GRCm39) |
P64S |
probably benign |
Het |
| Zbtb24 |
C |
T |
10: 41,327,264 (GRCm39) |
A50V |
probably damaging |
Het |
|
| Other mutations in Colec10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Colec10
|
APN |
15 |
54,323,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB002:Colec10
|
UTSW |
15 |
54,325,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB012:Colec10
|
UTSW |
15 |
54,325,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0004:Colec10
|
UTSW |
15 |
54,274,271 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0060:Colec10
|
UTSW |
15 |
54,302,542 (GRCm39) |
splice site |
probably benign |
|
|
R0060:Colec10
|
UTSW |
15 |
54,302,542 (GRCm39) |
splice site |
probably benign |
|
|
R0827:Colec10
|
UTSW |
15 |
54,325,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Colec10
|
UTSW |
15 |
54,325,835 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1551:Colec10
|
UTSW |
15 |
54,325,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4023:Colec10
|
UTSW |
15 |
54,325,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Colec10
|
UTSW |
15 |
54,325,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Colec10
|
UTSW |
15 |
54,323,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5893:Colec10
|
UTSW |
15 |
54,274,185 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6062:Colec10
|
UTSW |
15 |
54,323,203 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6489:Colec10
|
UTSW |
15 |
54,325,609 (GRCm39) |
splice site |
probably null |
|
|
R6775:Colec10
|
UTSW |
15 |
54,298,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6928:Colec10
|
UTSW |
15 |
54,326,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Colec10
|
UTSW |
15 |
54,325,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7925:Colec10
|
UTSW |
15 |
54,325,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8208:Colec10
|
UTSW |
15 |
54,325,696 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8363:Colec10
|
UTSW |
15 |
54,274,238 (GRCm39) |
missense |
probably benign |
|
|
R8691:Colec10
|
UTSW |
15 |
54,298,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9495:Colec10
|
UTSW |
15 |
54,325,761 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9712:Colec10
|
UTSW |
15 |
54,323,180 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
RF003:Colec10
|
UTSW |
15 |
54,325,787 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCATTGAAATGTGACAGTG -3'
(R):5'- ATGGTAAGGTGACACTCTGTG -3'
Sequencing Primer
(F):5'- TCCTCGCAGTTATAGCAGGGATC -3'
(R):5'- GTGTCATTCCACCTGCCAGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation