Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01990:Colec11'

182032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Colec11

Ensembl Gene

ENSMUSG00000036655

Gene Name

collectin sub-family member 11

Synonyms

1010001H16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01990

Quality Score

Status

Chromosome

Chromosomal Location

28644172-28673376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28644985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 170 (Y170H)

Ref Sequence

ENSEMBL: ENSMUSP00000152876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036136] [ENSMUST00000220655] [ENSMUST00000220836]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036136
AA Change: Y164H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: Y164H

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 benign
Transcript: ENSMUST00000220836
AA Change: Y170H

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	G	17: 33,653,068 (GRCm39)	N376S	probably benign	Het
Adgrv1	T	C	13: 81,705,115 (GRCm39)	D1565G	probably damaging	Het
Atf5	T	G	7: 44,462,473 (GRCm39)	D217A	probably damaging	Het
Azgp1	T	C	5: 137,987,997 (GRCm39)	W260R	probably damaging	Het
Cnr2	C	T	4: 135,644,116 (GRCm39)	R65C	probably damaging	Het
Col14a1	A	G	15: 55,226,859 (GRCm39)	Y203C	unknown	Het
Exosc10	A	G	4: 148,650,867 (GRCm39)	Q471R	possibly damaging	Het
Gal3st1	G	T	11: 3,948,741 (GRCm39)	W316L	probably damaging	Het
Igfbp3	C	A	11: 7,158,504 (GRCm39)	R253L	probably damaging	Het
Kcnb2	A	T	1: 15,383,178 (GRCm39)	D168V	probably benign	Het
Khnyn	T	G	14: 56,125,045 (GRCm39)	I433S	possibly damaging	Het
Naaa	T	A	5: 92,415,922 (GRCm39)	T193S	possibly damaging	Het
Nsun7	G	A	5: 66,418,416 (GRCm39)	D49N	probably damaging	Het
Pappa	T	C	4: 65,074,924 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,633,107 (GRCm39)		probably benign	Het
Pkd1l3	C	T	8: 110,387,438 (GRCm39)	T1794I	probably damaging	Het
Prex2	A	C	1: 11,193,457 (GRCm39)		probably benign	Het
Slc2a7	T	G	4: 150,239,141 (GRCm39)	I122S	possibly damaging	Het
Slc31a2	A	G	4: 62,214,207 (GRCm39)	K53E	probably benign	Het
Slc35f4	C	T	14: 49,541,626 (GRCm39)		probably null	Het
Slc38a7	C	T	8: 96,571,590 (GRCm39)	W213*	probably null	Het
Slc5a4b	T	C	10: 75,896,188 (GRCm39)	E589G	probably benign	Het
Syne2	A	G	12: 76,101,707 (GRCm39)	N5407S	probably damaging	Het
Tgm2	A	T	2: 157,966,051 (GRCm39)	D534E	probably benign	Het
Ugt1a7c	A	G	1: 88,023,324 (GRCm39)	Y161C	probably damaging	Het
Vmn2r114	A	G	17: 23,529,355 (GRCm39)	M249T	probably benign	Het
Xkr9	A	G	1: 13,771,203 (GRCm39)	I240V	probably benign	Het
Zfat	A	G	15: 68,096,666 (GRCm39)	L49P	probably damaging	Het
Zfhx2	G	T	14: 55,311,047 (GRCm39)	P549H	probably damaging	Het
Zfp551	C	T	7: 12,156,343 (GRCm39)	V25M	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
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
R5680:Colec11	UTSW	12	28,644,730 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07