Mutagenetix > Incidental Mutation

Incidental Mutation 'R7899:Colec11'

609907

Institutional Source

Beutler Lab

Gene Symbol

Colec11

Ensembl Gene

ENSMUSG00000036655

Gene Name

collectin sub-family member 11

Synonyms

1010001H16Rik

MMRRC Submission

045951-MU

Accession Numbers

Essential gene?

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

Stock #

R7899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28644172-28673376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28645281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 130 (V130G)

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 damaging
Transcript: ENSMUST00000036136
AA Change: V130G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: V130G

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: V130G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5070

Coding Region Coverage

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

Validation Efficiency

97% (70/72)

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
1500011B03Rik	T	C	5: 114,947,381 (GRCm39)	T49A	possibly damaging	Het
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Aagab	T	C	9: 63,524,132 (GRCm39)	F80L	probably benign	Het
Aox1	A	G	1: 58,320,396 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,528,569 (GRCm39)	S2P	probably damaging	Het
Bcar3	T	G	3: 122,301,902 (GRCm39)	V199G	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1a	G	A	8: 85,320,802 (GRCm39)	V1587M	possibly damaging	Het
Caps2	C	A	10: 112,001,666 (GRCm39)	S19Y	possibly damaging	Het
Ccdc196	A	G	12: 78,244,196 (GRCm39)	N50D		Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cobll1	A	G	2: 64,956,275 (GRCm39)	C328R	probably damaging	Het
Dennd5b	A	T	6: 148,943,159 (GRCm39)	D572E	probably damaging	Het
Dido1	A	T	2: 180,313,390 (GRCm39)	S961T	possibly damaging	Het
Dnah7c	A	T	1: 46,553,861 (GRCm39)	M380L	probably benign	Het
Dnai2	T	C	11: 114,629,456 (GRCm39)	I161T	probably benign	Het
Dnttip2	T	A	3: 122,076,018 (GRCm39)	M650K	probably damaging	Het
Dpp6	C	T	5: 27,926,077 (GRCm39)	P717L	probably benign	Het
Epha10	A	G	4: 124,808,628 (GRCm39)	E759G		Het
Frmd4a	T	C	2: 4,608,900 (GRCm39)	W923R	probably damaging	Het
Ftsj3	C	A	11: 106,143,115 (GRCm39)	E400*	probably null	Het
Gabra4	C	A	5: 71,815,338 (GRCm39)		probably benign	Het
Gfm1	T	A	3: 67,380,860 (GRCm39)	N658K	probably benign	Het
Gm21560	A	T	14: 6,218,220 (GRCm38)	I86N	probably damaging	Het
Gpr68	C	A	12: 100,844,707 (GRCm39)	C279F	probably damaging	Het
Hspg2	G	A	4: 137,275,427 (GRCm39)	A2752T	possibly damaging	Het
Hydin	A	T	8: 111,314,380 (GRCm39)	D4288V	probably benign	Het
Ift74	A	G	4: 94,510,214 (GRCm39)	T82A	possibly damaging	Het
Ints7	T	A	1: 191,353,427 (GRCm39)	W918R	probably damaging	Het
Kcnc1	T	A	7: 46,077,245 (GRCm39)	I349N	probably damaging	Het
Loxl1	C	T	9: 58,198,117 (GRCm39)	D580N	probably damaging	Het
Mlph	A	T	1: 90,869,485 (GRCm39)	R496*	probably null	Het
Mtdh	A	G	15: 34,123,865 (GRCm39)	D364G	possibly damaging	Het
Mtmr11	C	A	3: 96,077,744 (GRCm39)	L580I	probably damaging	Het
Muc16	T	C	9: 18,551,993 (GRCm39)	I4767V	probably benign	Het
Muc21	TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG	TCAGGGTGGGGGTAGAGCCTGAG	17: 35,931,493 (GRCm39)		probably benign	Het
Myot	A	G	18: 44,487,251 (GRCm39)	T363A	probably benign	Het
Nfxl1	G	A	5: 72,681,558 (GRCm39)	P658S	probably damaging	Het
Nhlrc3	A	C	3: 53,369,080 (GRCm39)	S120A	probably benign	Het
Nmur2	C	A	11: 55,931,161 (GRCm39)	Q183H	probably benign	Het
Nucb2	T	A	7: 116,121,205 (GRCm39)	I45K	probably benign	Het
Nup155	A	T	15: 8,148,663 (GRCm39)	D277V	probably damaging	Het
Or5ak25	T	C	2: 85,268,741 (GRCm39)	T254A	probably benign	Het
Orc1	T	G	4: 108,460,568 (GRCm39)		probably null	Het
Panx2	A	G	15: 88,952,936 (GRCm39)	T468A	possibly damaging	Het
Pcdh7	A	G	5: 57,877,152 (GRCm39)	S236G	probably benign	Het
Pcdhga2	G	C	18: 37,803,910 (GRCm39)	G585R	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	T	G	9: 8,903,743 (GRCm39)	M588R	probably benign	Het
Ptpn18	A	T	1: 34,508,986 (GRCm39)		probably null	Het
Rbm8a2	T	A	1: 175,806,207 (GRCm39)	H90L	probably benign	Het
Ryr3	A	T	2: 112,477,295 (GRCm39)	L4507Q	possibly damaging	Het
Serpina12	A	G	12: 104,004,524 (GRCm39)	V36A	probably benign	Het
Sis	T	A	3: 72,844,584 (GRCm39)	S717C	probably damaging	Het
Slit2	A	G	5: 48,404,527 (GRCm39)	E846G	possibly damaging	Het
Smr3a	C	T	5: 88,156,086 (GRCm39)	H85Y	unknown	Het
Sned1	G	C	1: 93,201,804 (GRCm39)	R590P	probably benign	Het
Spata31h1	A	G	10: 82,118,731 (GRCm39)	S4760P	unknown	Het
Sting1	A	G	18: 35,867,626 (GRCm39)	S357P	probably damaging	Het
Sult2a7	A	G	7: 14,199,134 (GRCm39)	Y298H	probably damaging	Het
Syn3	A	G	10: 85,900,793 (GRCm39)	V365A	possibly damaging	Het
Syne1	A	T	10: 5,177,956 (GRCm39)	Y4839*	probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tbl3	G	T	17: 24,921,458 (GRCm39)	H478N	probably damaging	Het
Tcirg1	A	T	19: 3,949,104 (GRCm39)	I395N	probably damaging	Het
Ticrr	T	C	7: 79,319,233 (GRCm39)	I406T	probably benign	Het
Tmem120a	C	A	5: 135,766,052 (GRCm39)	K123N	probably benign	Het
Tmem184c	A	G	8: 78,324,440 (GRCm39)	V350A	probably damaging	Het
Tmem70	G	T	1: 16,747,268 (GRCm39)	M128I	probably benign	Het
Tmx3	A	T	18: 90,545,998 (GRCm39)		probably null	Het
Topors	G	C	4: 40,260,356 (GRCm39)	S976W	unknown	Het
Trp53	T	C	11: 69,481,519 (GRCm39)	L341P	probably damaging	Het
Usp14	T	C	18: 10,000,563 (GRCm39)	K366E	possibly damaging	Het
Zbtb49	G	T	5: 38,371,274 (GRCm39)	C202*	probably null	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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'- AAGGCATCATTCGGTGTGG -3'

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

Posted On

2019-12-20