Incidental Mutation 'IGL01678:Colec11'
ID103699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Colec11
Ensembl Gene ENSMUSG00000036655
Gene Namecollectin sub-family member 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01678
Quality Score
Status
Chromosome12
Chromosomal Location28594173-28623377 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28594868 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 209 (F209S)
Ref Sequence ENSEMBL: ENSMUSP00000152876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036136] [ENSMUST00000220655] [ENSMUST00000220836]
Predicted Effect probably damaging
Transcript: ENSMUST00000036136
AA Change: F203S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: F203S

DomainStartEndE-ValueType
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: F209S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Angel1 T C 12: 86,717,026 E500G probably benign Het
Car9 T C 4: 43,512,941 probably benign Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Ftmt A T 18: 52,332,134 H174L probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gm960 T A 19: 4,672,165 I76L possibly damaging Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Nit1 A G 1: 171,342,694 V270A probably damaging Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Zmat4 T A 8: 23,902,048 C7S probably damaging Het
Other mutations in Colec11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Colec11 APN 12 28594986 missense probably benign 0.30
R0759:Colec11 UTSW 12 28594731 missense probably damaging 1.00
R1796:Colec11 UTSW 12 28594859 missense probably damaging 1.00
R2086:Colec11 UTSW 12 28594787 missense probably damaging 0.99
R2926:Colec11 UTSW 12 28617429 missense probably damaging 0.99
R3624:Colec11 UTSW 12 28594908 missense probably benign 0.00
R4078:Colec11 UTSW 12 28595247 missense possibly damaging 0.75
R5680:Colec11 UTSW 12 28594731 missense probably damaging 1.00
R6768:Colec11 UTSW 12 28595101 intron probably null
R7296:Colec11 UTSW 12 28594715 missense probably damaging 1.00
R7758:Colec11 UTSW 12 28595242 critical splice donor site probably null
R7899:Colec11 UTSW 12 28595282 missense probably damaging 1.00
R7982:Colec11 UTSW 12 28595282 missense probably damaging 1.00
RF019:Colec11 UTSW 12 28612883 missense probably benign 0.29
Z1176:Colec11 UTSW 12 28595284 missense probably damaging 0.97
Posted On2014-01-21