Mutagenetix > Incidental Mutation

Incidental Mutation 'R8363:Colec10'

646070

Institutional Source

Beutler Lab

Gene Symbol

Colec10

Ensembl Gene

ENSMUSG00000038591

Gene Name

collectin sub-family member 10

Synonyms

CL-L1

MMRRC Submission

067654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8363 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54274170-54329754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54274238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 22 (H22R)

Ref Sequence

ENSEMBL: ENSMUSP00000037867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036737]

AlphaFold

Q8CF98

Predicted Effect

probably benign
Transcript: ENSMUST00000036737
AA Change: H22R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: H22R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Collagen	44	96	1.4e-9	PFAM
Pfam:Collagen	65	123	4.3e-10	PFAM
CLECT	148	271	1.09e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,800 (GRCm39)	I375L		Het
Adamts18	C	T	8: 114,493,795 (GRCm39)	G448D	probably damaging	Het
Bzw2	A	G	12: 36,180,122 (GRCm39)	V35A	probably benign	Het
C2cd4d	C	T	3: 94,271,157 (GRCm39)	T141M	probably benign	Het
Chchd4	T	A	6: 91,444,737 (GRCm39)	K17*	probably null	Het
Cmas	C	T	6: 142,702,554 (GRCm39)	P19L	probably benign	Het
D630045J12Rik	T	C	6: 38,125,376 (GRCm39)	D1546G	probably damaging	Het
Dgki	A	T	6: 36,993,613 (GRCm39)	C583S	probably damaging	Het
Dhrs13	G	T	11: 77,925,343 (GRCm39)	V205L	probably damaging	Het
Eif4a3l1	T	G	6: 136,306,453 (GRCm39)	S305A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Erc1	T	C	6: 119,730,260 (GRCm39)	D612G	probably benign	Het
Fam163b	G	A	2: 27,002,650 (GRCm39)	R116C	probably benign	Het
Gm5160	T	C	18: 14,557,929 (GRCm39)	V2A	possibly damaging	Het
Gm8247	A	T	14: 44,823,919 (GRCm39)	I202F		Het
Gnpat	T	C	8: 125,590,038 (GRCm39)	V21A	probably benign	Het
Igfn1	A	T	1: 135,891,625 (GRCm39)	S2297T	probably benign	Het
Igkv13-85	A	G	6: 68,907,269 (GRCm39)	Y111H	probably damaging	Het
Il17rd	A	G	14: 26,813,906 (GRCm39)	N206D	probably damaging	Het
Il1r2	G	A	1: 40,160,095 (GRCm39)	V272M	probably damaging	Het
Ivl	T	A	3: 92,479,525 (GRCm39)	H180L	possibly damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kirrel2	A	G	7: 30,152,968 (GRCm39)	V350A	probably damaging	Het
Mcpt4	A	G	14: 56,299,692 (GRCm39)	S14P	probably damaging	Het
Mdm2	A	G	10: 117,526,239 (GRCm39)	V449A	probably damaging	Het
Mga	T	C	2: 119,794,407 (GRCm39)	V2697A	probably benign	Het
Mlxipl	T	C	5: 135,135,930 (GRCm39)	F52L	probably benign	Het
Mtarc2	A	G	1: 184,566,055 (GRCm39)		probably null	Het
Ndst3	T	C	3: 123,350,517 (GRCm39)	S623G	possibly damaging	Het
Oas1a	C	T	5: 121,043,902 (GRCm39)	A77T	probably damaging	Het
Or4d1	A	T	11: 87,805,069 (GRCm39)	I221N	probably damaging	Het
Or9a2	T	C	6: 41,748,684 (GRCm39)	Q183R	probably benign	Het
P3h2	A	G	16: 25,811,468 (GRCm39)	F252L	probably damaging	Het
Psme4	A	G	11: 30,762,139 (GRCm39)	D493G	probably damaging	Het
Rab3ip	A	C	10: 116,754,869 (GRCm39)	I229S	probably damaging	Het
Ralgapb	T	C	2: 158,268,119 (GRCm39)	L74P	probably damaging	Het
Scn1a	G	T	2: 66,152,601 (GRCm39)	N804K	probably damaging	Het
Slc22a6	A	T	19: 8,596,386 (GRCm39)	H124L	probably benign	Het
Slc6a6	A	G	6: 91,727,277 (GRCm39)	I492V	probably benign	Het
Snx2	G	T	18: 53,330,936 (GRCm39)	E134*	probably null	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tcp11	A	G	17: 28,288,221 (GRCm39)	S415P	possibly damaging	Het
Vmn2r67	A	T	7: 84,804,969 (GRCm39)	S48T	probably benign	Het
Vps16	T	A	2: 130,284,161 (GRCm39)	F665L	probably benign	Het
Wdhd1	A	T	14: 47,513,989 (GRCm39)	D22E	probably damaging	Het
Zng1	A	T	19: 24,920,091 (GRCm39)	H175Q	probably benign	Het

Other mutations in Colec10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Colec10	APN	15	54,323,157 (GRCm39)	missense	probably damaging	0.98
BB002:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
BB012:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
R0004:Colec10	UTSW	15	54,274,271 (GRCm39)	missense	possibly damaging	0.57
R0060:Colec10	UTSW	15	54,302,542 (GRCm39)	splice site	probably benign
R0060:Colec10	UTSW	15	54,302,542 (GRCm39)	splice site	probably benign
R0827:Colec10	UTSW	15	54,325,980 (GRCm39)	missense	probably damaging	1.00
R1238:Colec10	UTSW	15	54,325,835 (GRCm39)	missense	possibly damaging	0.75
R1551:Colec10	UTSW	15	54,325,658 (GRCm39)	missense	probably damaging	1.00
R2371:Colec10	UTSW	15	54,325,796 (GRCm39)	missense	possibly damaging	0.84
R4023:Colec10	UTSW	15	54,325,947 (GRCm39)	missense	probably damaging	1.00
R4024:Colec10	UTSW	15	54,325,947 (GRCm39)	missense	probably damaging	1.00
R4628:Colec10	UTSW	15	54,323,127 (GRCm39)	missense	possibly damaging	0.68
R5893:Colec10	UTSW	15	54,274,185 (GRCm39)	missense	probably benign	0.18
R6062:Colec10	UTSW	15	54,323,203 (GRCm39)	missense	possibly damaging	0.93
R6489:Colec10	UTSW	15	54,325,609 (GRCm39)	splice site	probably null
R6775:Colec10	UTSW	15	54,298,419 (GRCm39)	missense	possibly damaging	0.95
R6928:Colec10	UTSW	15	54,326,002 (GRCm39)	missense	probably damaging	1.00
R7124:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
R7925:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
R8208:Colec10	UTSW	15	54,325,696 (GRCm39)	missense	possibly damaging	0.62
R8691:Colec10	UTSW	15	54,298,420 (GRCm39)	missense	probably benign	0.01
R9495:Colec10	UTSW	15	54,325,761 (GRCm39)	missense	probably damaging	0.97
R9712:Colec10	UTSW	15	54,323,180 (GRCm39)	missense	possibly damaging	0.77
RF003:Colec10	UTSW	15	54,325,787 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GCAGCCATTTCTGGAATGTAC -3'
(R):5'- ACAATCCAGGGAAGCCTATAGG -3'

Sequencing Primer
(F):5'- GGAATGTACTTTCCAGATACCTCC -3'
(R):5'- TCCAGGGAAGCCTATAGGAAATAAC -3'

Posted On

2020-09-02