Incidental Mutation 'R5680:Colec11'
| ID |
442992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colec11
|
| Ensembl Gene |
ENSMUSG00000036655 |
| Gene Name |
collectin sub-family member 11 |
| Synonyms |
1010001H16Rik |
| MMRRC Submission |
043177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
28644172-28673376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28644730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036136]
[ENSMUST00000220655]
[ENSMUST00000220836]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036136
AA Change: S249P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
40 |
88 |
5.8e-10 |
PFAM |
|
Pfam:Collagen
|
60 |
116 |
4.7e-11 |
PFAM |
|
CLECT
|
139 |
266 |
1.74e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220655
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220836
AA Change: S255P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in the human gene are a cause of 3MC syndrome-2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased susceptibility to kidney reperfusion injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Atn1 |
A |
T |
6: 124,724,778 (GRCm39) |
S152T |
possibly damaging |
Het |
| Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,264 (GRCm39) |
T466A |
probably damaging |
Het |
| Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,216,219 (GRCm39) |
R106G |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,677,013 (GRCm39) |
H79R |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
| Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
| Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
| Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
| Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
| Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
| Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
| Trim40 |
A |
T |
17: 37,199,874 (GRCm39) |
I68N |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
| Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
| Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly damaging |
Het |
|
| Other mutations in Colec11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01678:Colec11
|
APN |
12 |
28,644,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01990:Colec11
|
APN |
12 |
28,644,985 (GRCm39) |
missense |
probably benign |
0.30 |
|
Philatelist
|
UTSW |
12 |
28,645,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0759:Colec11
|
UTSW |
12 |
28,644,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Colec11
|
UTSW |
12 |
28,644,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Colec11
|
UTSW |
12 |
28,644,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2926:Colec11
|
UTSW |
12 |
28,667,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3624:Colec11
|
UTSW |
12 |
28,644,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Colec11
|
UTSW |
12 |
28,645,246 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6768:Colec11
|
UTSW |
12 |
28,645,100 (GRCm39) |
splice site |
probably null |
|
|
R7296:Colec11
|
UTSW |
12 |
28,644,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Colec11
|
UTSW |
12 |
28,645,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7899:Colec11
|
UTSW |
12 |
28,645,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Colec11
|
UTSW |
12 |
28,644,658 (GRCm39) |
makesense |
probably null |
|
|
R9178:Colec11
|
UTSW |
12 |
28,644,854 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9500:Colec11
|
UTSW |
12 |
28,645,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9679:Colec11
|
UTSW |
12 |
28,644,829 (GRCm39) |
missense |
probably benign |
0.43 |
|
RF019:Colec11
|
UTSW |
12 |
28,662,882 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Colec11
|
UTSW |
12 |
28,645,283 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCAAACAGCCCTTCCAACTG -3'
(R):5'- ATGGCTTCATACCTGGCAC -3'
Sequencing Primer
(F):5'- GCCCTTCCAACTGTCAATGAGG -3'
(R):5'- GGAGAAAGAAGGTGCTTTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation