Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Colec10'

32415

Institutional Source

Beutler Lab

Gene Symbol

Colec10

Ensembl Gene

ENSMUSG00000038591

Gene Name

collectin sub-family member 10

Synonyms

CL-L1

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

54274170-54329754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54274271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 33 (R33L)

Ref Sequence

ENSEMBL: ENSMUSP00000037867 (fasta)

Gene Model

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

AlphaFold

Q8CF98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036737
AA Change: R33L

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: R33L

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

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	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
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
R8363:Colec10	UTSW	15	54,274,238 (GRCm39)	missense	probably benign
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'- TGCTTATGGAGAGGTTTGCACTGAC -3'
(R):5'- CCATCTAAACGCACTGGAAGAGGG -3'

Sequencing Primer
(F):5'- GAGGTTTGCACTGACCTGAATATC -3'
(R):5'- GGGTCCTCAGTGTTCGACATC -3'

Posted On

2013-05-09