Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Colec11'

316709

Institutional Source

Beutler Lab

Gene Symbol

Colec11

Ensembl Gene

ENSMUSG00000036655

Gene Name

collectin sub-family member 11

Synonyms

1010001H16Rik

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

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

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28644172-28673376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28645246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 142 (N142D)

Ref Sequence

ENSEMBL: ENSMUSP00000049285 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036136
AA Change: N142D

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: N142D

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: N142D

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.2976

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGCCAGCACTTGCATTTC -3'
(R):5'- AAGGCATCATTCGGTGTGGC -3'

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

Posted On

2015-05-15