Mutagenetix > Incidental Mutation

Incidental Mutation 'BB002:Colec10'

642187

Institutional Source

Beutler Lab

Gene Symbol

Colec10

Ensembl Gene

ENSMUSG00000038591

Gene Name

collectin sub-family member 10

Synonyms

CL-L1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB002

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54274170-54329754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54325767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000037867 (fasta)

Gene Model

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

AlphaFold

Q8CF98

Predicted Effect

probably damaging
Transcript: ENSMUST00000036737
AA Change: V199A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: V199A

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

0.3126

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Abcc2	A	G	19: 43,795,551 (GRCm39)	I436V	probably benign	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Coasy	T	G	11: 100,974,522 (GRCm39)	D229E	probably benign	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,119,023 (GRCm39)	N164S	probably damaging	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or1l8	A	G	2: 36,817,371 (GRCm39)	F252L	possibly damaging	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,749,627 (GRCm39)	D301G	probably null	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	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
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
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'- TGAGCGCATTGAAATGTGACAG -3'
(R):5'- TGCCAGAGCTCAACATCTC -3'

Sequencing Primer
(F):5'- CTTCTTGTACTGAGACACATTATGG -3'
(R):5'- ATCTCCACACAGTCCTCATGG -3'

Posted On

2020-08-01