Mutagenetix > Incidental Mutation

Incidental Mutation 'R7758:Colec11'

597687

Institutional Source

Beutler Lab

Gene Symbol

Colec11

Ensembl Gene

ENSMUSG00000036655

Gene Name

collectin sub-family member 11

Synonyms

1010001H16Rik

MMRRC Submission

045814-MU

Accession Numbers

Essential gene?

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

Stock #

R7758 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28644172-28673376 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 28645241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000036136

SMART Domains

Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655

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 null
Transcript: ENSMUST00000220836

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (48/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,816 (GRCm39)	D1124G	probably damaging	Het
Actr10	A	G	12: 70,989,100 (GRCm39)	H73R	probably damaging	Het
Ak9	G	T	10: 41,223,128 (GRCm39)	A424S		Het
Alkbh5	G	A	11: 60,429,903 (GRCm39)	V219M	probably damaging	Het
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bfar	T	C	16: 13,519,985 (GRCm39)	F406S	possibly damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Crh	T	A	3: 19,748,453 (GRCm39)	Y63F	probably damaging	Het
Dmbt1	C	T	7: 130,722,926 (GRCm39)	H1946Y	unknown	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm17019	A	G	5: 15,079,300 (GRCm39)	*256Q	probably null	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
H3c13	A	G	3: 96,176,203 (GRCm39)	K65R	possibly damaging	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Klhl35	C	T	7: 99,122,425 (GRCm39)	T87I	unknown	Het
Kmt2e	A	G	5: 23,701,068 (GRCm39)	T761A	possibly damaging	Het
Lca5l	C	T	16: 95,980,037 (GRCm39)	R36H	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or4c120	T	A	2: 89,001,485 (GRCm39)	I24L	probably benign	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Prss43	G	A	9: 110,658,459 (GRCm39)	G253E	possibly damaging	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Slc22a15	A	G	3: 101,805,251 (GRCm39)		probably null	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Sphk1	A	G	11: 116,427,063 (GRCm39)	R340G	possibly damaging	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Taok3	A	G	5: 117,388,972 (GRCm39)	E459G	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGCCAG	AGCCAGCGCCAG	4: 43,177,344 (GRCm39)		probably benign	Het
Vmn1r201	A	G	13: 22,658,989 (GRCm39)	T68A	not run	Het
Wdr59	T	A	8: 112,207,117 (GRCm39)	I534F		Het
Ylpm1	A	G	12: 85,061,796 (GRCm39)	I566V	unknown	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zcchc14	T	C	8: 122,331,428 (GRCm39)	K645R	unknown	Het
Zfp704	C	T	3: 9,509,282 (GRCm39)	V388M	possibly damaging	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	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
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
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'- AAAGCCAGCACTTGCATTTC -3'
(R):5'- TAAGGCATCATTCGGTGTGG -3'

Sequencing Primer
(F):5'- GCCAGCACTTGCATTTCTATAAAC -3'
(R):5'- TGCCCTAAAGGTTGTGACAC -3'

Posted On

2019-11-26