Mutagenetix > Incidental Mutation

Incidental Mutation 'R4081:Clec4b1'

316880

Institutional Source

Beutler Lab

Gene Symbol

Clec4b1

Ensembl Gene

ENSMUSG00000030147

Gene Name

C-type lectin domain family 4, member b1

Synonyms

1810046I24Rik, 1810046I24Rik, DCARbeta, DCAR, mDcar2

MMRRC Submission

040977-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123026921-123048514 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 123046733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077228] [ENSMUST00000078559]

AlphaFold

Q7TS58

Predicted Effect

probably null
Transcript: ENSMUST00000077228

SMART Domains

Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
CLECT	45	170	2.95e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000078559

SMART Domains

Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147

Domain	Start	End	E-Value	Type
Blast:CLECT	26	71	1e-9	BLAST
CLECT	78	203	2.95e-31	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

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-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adad1	A	G	3: 37,118,512 (GRCm39)		probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Ccnf	T	C	17: 24,442,872 (GRCm39)	*778W	probably null	Het
Cd53	T	C	3: 106,669,461 (GRCm39)	H179R	probably benign	Het
Cit	G	T	5: 116,086,109 (GRCm39)	R891L	probably damaging	Het
Cntrl	C	A	2: 35,051,938 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,065,137 (GRCm39)	D2148G	probably damaging	Het
Cpa5	T	C	6: 30,631,228 (GRCm39)	S381P	probably benign	Het
Crybg1	A	T	10: 43,851,035 (GRCm39)	V1612D	probably damaging	Het
Cwc25	G	T	11: 97,644,744 (GRCm39)	Q205K	probably benign	Het
Cyp2d11	A	T	15: 82,276,002 (GRCm39)	I193N	possibly damaging	Het
Gdi2	T	A	13: 3,598,866 (GRCm39)	C17S	probably benign	Het
Gm5436	T	A	12: 84,305,489 (GRCm39)		noncoding transcript	Het
Ifit1bl1	T	C	19: 34,572,040 (GRCm39)	Y139C	possibly damaging	Het
Insr	A	T	8: 3,261,391 (GRCm39)	M321K	probably benign	Het
Ippk	T	A	13: 49,599,852 (GRCm39)	L237Q	probably damaging	Het
Itpr1	T	A	6: 108,368,796 (GRCm39)	I149N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Myd88	G	T	9: 119,169,053 (GRCm39)		probably benign	Het
Myh2	T	C	11: 67,081,256 (GRCm39)	S1291P	probably benign	Het
Mylk3	G	A	8: 86,055,311 (GRCm39)	L549F	probably damaging	Het
Otog	T	C	7: 45,937,723 (GRCm39)	S1811P	possibly damaging	Het
Phrf1	T	C	7: 140,838,970 (GRCm39)		probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptprh	T	A	7: 4,583,987 (GRCm39)	T202S	probably damaging	Het
Ptprr	A	T	10: 116,072,615 (GRCm39)	K329N	probably benign	Het
Rgl3	T	A	9: 21,898,971 (GRCm39)	H156L	possibly damaging	Het
Sema6b	A	G	17: 56,435,307 (GRCm39)	V312A	probably damaging	Het
Sez6l	T	C	5: 112,609,032 (GRCm39)	I606V	probably benign	Het
Slco1a1	T	C	6: 141,881,688 (GRCm39)	E148G	probably damaging	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Sohlh1	A	G	2: 25,735,734 (GRCm39)	V135A	probably benign	Het
Sox14	T	C	9: 99,757,277 (GRCm39)	E154G	possibly damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,230,764 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,795,595 (GRCm39)	P296S	probably damaging	Het
Tbx15	A	G	3: 99,220,370 (GRCm39)	D48G	possibly damaging	Het
Tex10	T	C	4: 48,468,873 (GRCm39)	S101G	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r66	A	G	7: 10,008,733 (GRCm39)	I100T	probably damaging	Het
Vmn2r106	A	T	17: 20,487,818 (GRCm39)	Y860*	probably null	Het
Vwa3b	C	T	1: 37,074,905 (GRCm39)	T24I	probably damaging	Het
Zfp541	G	A	7: 15,806,060 (GRCm39)	S65N	probably benign	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	Het

Other mutations in Clec4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02817:Clec4b1	APN	6	123,045,444 (GRCm39)	missense	possibly damaging	0.83
R0488:Clec4b1	UTSW	6	123,048,441 (GRCm39)	missense	probably damaging	0.99
R0526:Clec4b1	UTSW	6	123,046,729 (GRCm39)	critical splice donor site	probably null
R0675:Clec4b1	UTSW	6	123,048,405 (GRCm39)	missense	probably damaging	0.99
R2374:Clec4b1	UTSW	6	123,027,597 (GRCm39)	missense	probably damaging	1.00
R2504:Clec4b1	UTSW	6	123,042,904 (GRCm39)	missense	probably damaging	0.98
R3609:Clec4b1	UTSW	6	123,027,591 (GRCm39)	missense	probably damaging	0.99
R4062:Clec4b1	UTSW	6	123,045,443 (GRCm39)	missense	probably benign	0.03
R4865:Clec4b1	UTSW	6	123,045,428 (GRCm39)	missense	possibly damaging	0.84
R5172:Clec4b1	UTSW	6	123,048,414 (GRCm39)	missense	probably benign	0.34
R5204:Clec4b1	UTSW	6	123,048,494 (GRCm39)	makesense	probably null
R5757:Clec4b1	UTSW	6	123,046,713 (GRCm39)	nonsense	probably null
R6129:Clec4b1	UTSW	6	123,045,461 (GRCm39)	missense	possibly damaging	0.50
R7598:Clec4b1	UTSW	6	123,048,427 (GRCm39)	nonsense	probably null
R8337:Clec4b1	UTSW	6	123,042,922 (GRCm39)	missense	probably benign	0.08
R8362:Clec4b1	UTSW	6	123,027,602 (GRCm39)	missense	probably benign	0.00
R8929:Clec4b1	UTSW	6	123,046,728 (GRCm39)	critical splice donor site	probably null
Z1188:Clec4b1	UTSW	6	123,027,005 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAACCCTGTAATACTATGTCATGG -3'
(R):5'- AGAACCTTGATTGGGTGCC -3'

Sequencing Primer
(F):5'- GTCCTGGAACTCACTGTAGAC -3'
(R):5'- AAACAATTTCCTCATCTCTGCTGGG -3'

Posted On

2015-05-15