Mutagenetix > Incidental Mutation

Incidental Mutation 'R9500:Colec11'

717515

Institutional Source

Beutler Lab

Gene Symbol

Colec11

Ensembl Gene

ENSMUSG00000036655

Gene Name

collectin sub-family member 11

Synonyms

1010001H16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9500 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28644172-28673376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28645302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 123 (I123S)

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: I123S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: I123S

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: I123S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,091 (GRCm39)	T107I	possibly damaging	Het
Acyp1	T	A	12: 85,325,786 (GRCm39)	Y71F	unknown	Het
Akap11	A	T	14: 78,748,543 (GRCm39)	H1281Q		Het
Amz1	T	C	5: 140,737,975 (GRCm39)	Y412H	probably benign	Het
Anxa10	C	T	8: 62,545,545 (GRCm39)	M62I	probably benign	Het
Arhgap25	T	C	6: 87,469,184 (GRCm39)	K109E	probably damaging	Het
Arhgap31	T	A	16: 38,460,683 (GRCm39)	E43D	probably damaging	Het
Atf6	T	C	1: 170,574,708 (GRCm39)	M577V	probably damaging	Het
Auts2	C	A	5: 131,505,620 (GRCm39)	A82S	unknown	Het
Bcl3	T	C	7: 19,556,602 (GRCm39)	M1V	probably null	Het
Cblb	T	C	16: 51,959,993 (GRCm39)		probably null	Het
Cc2d2b	T	C	19: 40,797,840 (GRCm39)	V820A	unknown	Het
Clint1	T	G	11: 45,797,194 (GRCm39)	M425R	possibly damaging	Het
Clvs1	A	G	4: 9,429,834 (GRCm39)	D279G	probably damaging	Het
Crebbp	C	T	16: 3,911,355 (GRCm39)	E1460K	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcaf8	C	G	1: 171,999,909 (GRCm39)	S22R	possibly damaging	Het
Dmxl1	T	C	18: 50,011,271 (GRCm39)	S1143P	probably damaging	Het
Dnhd1	T	C	7: 105,353,709 (GRCm39)	I2954T	probably benign	Het
Dop1b	C	T	16: 93,607,171 (GRCm39)	P2275L	probably benign	Het
Drc3	A	G	11: 60,261,334 (GRCm39)	S162G	probably benign	Het
Ehd2	T	C	7: 15,686,077 (GRCm39)	I332V	possibly damaging	Het
Eml1	T	A	12: 108,493,958 (GRCm39)	D584E	probably damaging	Het
Eogt	T	C	6: 97,096,992 (GRCm39)	T339A	probably benign	Het
Gbf1	A	G	19: 46,258,389 (GRCm39)	T949A	probably benign	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,749,044 (GRCm39)		probably benign	Het
Gm11568	AGCCC	AGCCCTGCTGCCTGCCC	11: 99,749,065 (GRCm39)		probably benign	Het
Gtpbp10	A	T	5: 5,606,120 (GRCm39)	C88*	probably null	Het
Ifit1bl2	A	T	19: 34,596,508 (GRCm39)	Y369*	probably null	Het
Igsf6	A	G	7: 120,673,697 (GRCm39)	L11P	probably benign	Het
Lars1	A	T	18: 42,361,726 (GRCm39)	I627N	probably damaging	Het
Lmo3	G	T	6: 138,393,621 (GRCm39)	Q11K		Het
Mical2	A	T	7: 111,936,054 (GRCm39)		probably null	Het
Mmp23	A	G	4: 155,736,567 (GRCm39)	V158A	probably benign	Het
Mmp24	T	C	2: 155,654,195 (GRCm39)	I391T	probably damaging	Het
Mrgpra3	A	T	7: 47,239,400 (GRCm39)	Y175*	probably null	Het
Mrpl23	G	A	7: 142,089,859 (GRCm39)	V65M	probably damaging	Het
Mup1	A	G	4: 60,456,488 (GRCm39)	L85S	possibly damaging	Het
Myo15b	T	C	11: 115,777,466 (GRCm39)	L747S	probably damaging	Het
Nanog	G	T	6: 122,690,219 (GRCm39)	W208L	probably damaging	Het
Nkg7	A	G	7: 43,087,229 (GRCm39)	Y112C	probably damaging	Het
Nup155	A	G	15: 8,141,800 (GRCm39)	D64G	probably damaging	Het
Or13p4	A	G	4: 118,546,930 (GRCm39)	S240P	possibly damaging	Het
Palm3	T	C	8: 84,753,636 (GRCm39)	S108P	probably damaging	Het
Pam	T	C	1: 97,772,325 (GRCm39)	N579D	probably benign	Het
Pclo	A	G	5: 14,725,648 (GRCm39)	E1502G	unknown	Het
Pde4dip	A	G	3: 97,795,896 (GRCm39)	S31P	unknown	Het
Peg10	A	T	6: 4,756,871 (GRCm39)	K482N	unknown	Het
Phf19	A	T	2: 34,801,708 (GRCm39)	L34*	probably null	Het
Pla2g2c	A	T	4: 138,461,689 (GRCm39)	K53*	probably null	Het
Pla2g4f	T	A	2: 120,142,713 (GRCm39)		probably null	Het
Polk	G	T	13: 96,630,349 (GRCm39)	T404K	probably damaging	Het
Prkdc	T	A	16: 15,657,079 (GRCm39)	V4058D	possibly damaging	Het
Prox2	T	A	12: 85,134,851 (GRCm39)	I477F	probably damaging	Het
Ptk6	A	G	2: 180,837,566 (GRCm39)	V451A	probably benign	Het
Ptpn3	C	T	4: 57,205,914 (GRCm39)	E693K	possibly damaging	Het
Rag2	G	A	2: 101,461,217 (GRCm39)	G509D	probably damaging	Het
Rapgef2	A	G	3: 78,974,093 (GRCm39)	C1418R	probably benign	Het
Rev1	A	T	1: 38,102,214 (GRCm39)	Y716*	probably null	Het
Rsl1d1	T	A	16: 11,011,385 (GRCm39)	T440S	possibly damaging	Het
Samd14	T	A	11: 94,914,372 (GRCm39)	Y343*	probably null	Het
Sema3a	A	T	5: 13,615,854 (GRCm39)	D426V	possibly damaging	Het
Slc7a11	G	A	3: 50,382,201 (GRCm39)	T182M	probably benign	Het
Slitrk5	A	G	14: 111,916,726 (GRCm39)	I117V	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stil	A	T	4: 114,878,716 (GRCm39)	H384L	possibly damaging	Het
Suclg2	C	A	6: 95,546,666 (GRCm39)	R270L	probably damaging	Het
Taf5	A	G	19: 47,065,771 (GRCm39)	D492G	probably damaging	Het
Tes3-ps	T	A	13: 49,647,815 (GRCm39)	Y230*	probably null	Het
Ttc41	G	T	10: 86,565,726 (GRCm39)	A427S	probably benign	Het
Ttn	T	C	2: 76,553,994 (GRCm39)	D30903G	probably damaging	Het
Txndc16	A	T	14: 45,406,798 (GRCm39)	L219Q	probably null	Het
Usp34	T	A	11: 23,331,337 (GRCm39)	H1098Q	probably damaging	Het
Vmn2r52	T	A	7: 9,905,281 (GRCm39)	Y186F	probably damaging	Het
Zbtb41	T	C	1: 139,359,806 (GRCm39)	F512S	probably 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
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
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'- AAGCCAGCACTTGCATTTC -3'
(R):5'- TAAGGCATCATTCGGTGTGGC -3'

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

Posted On

2022-07-18