Mutagenetix > Incidental Mutations

Incidental Mutation 'R6522:Clec4g'

521380

Institutional Source

Beutler Lab

Gene Symbol

Clec4g

Ensembl Gene

ENSMUSG00000074491

Gene Name

C-type lectin domain family 4, member g

Synonyms

4930572L20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6522 (G1)

Quality Score

151.008

Status

Validated

Chromosome

Chromosomal Location

3707064-3720651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3718803 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 62 (V62G)

Ref Sequence

ENSEMBL: ENSMUSP00000059574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058040] [ENSMUST00000062037]

Predicted Effect

probably benign
Transcript: ENSMUST00000058040

Predicted Effect

probably benign
Transcript: ENSMUST00000062037
AA Change: V62G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059574
Gene: ENSMUSG00000074491
AA Change: V62G

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
coiled coil region	98	153	N/A	INTRINSIC
CLECT	165	288	8.85e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160490

Predicted Effect

probably benign
Transcript: ENSMUST00000160527

SMART Domains

Protein: ENSMUSP00000124493
Gene: ENSMUSG00000074491

Domain	Start	End	E-Value	Type
CLECT	2	97	7.75e-8	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased intrahepatic T cell immunity, enhanced immune-mediated liver injury during Con A-induced experimental acute hepatitis, and accelerated CTL-dependent adenovirus clearance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,377,892	E1209*	probably null	Het
Adgrg5	G	T	8: 94,942,068	R503L	probably benign	Het
Anks1b	C	T	10: 90,897,327		probably benign	Het
Anxa5	A	T	3: 36,465,302	F13I	probably damaging	Het
Bicd1	A	G	6: 149,484,005	I79V	probably benign	Het
Bnip1	A	G	17: 26,789,745	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,588,220	E78G	probably damaging	Het
Ccnk	A	G	12: 108,187,187	D69G	probably damaging	Het
Clec2i	G	T	6: 128,893,729	V77F	probably damaging	Het
Col4a4	G	A	1: 82,487,583	A957V	unknown	Het
Csnk1d	A	G	11: 120,971,623	F277L	probably damaging	Het
Dip2c	G	A	13: 9,575,228		probably null	Het
Dpf2	T	A	19: 5,905,532	K108*	probably null	Het
Dync1h1	G	A	12: 110,616,737	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,561,556		probably null	Homo
Flad1	T	C	3: 89,403,183	R488G	probably damaging	Het
Galnt6	A	C	15: 100,693,355	*623E	probably null	Het
Gtf2e1	T	C	16: 37,511,454	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,555,275	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,388,276	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,324,826	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,785,779	E478G	probably damaging	Het
Lamb3	G	A	1: 193,335,453	V881I	probably benign	Het
Map3k6	T	C	4: 133,250,024	L894P	possibly damaging	Het
Mast4	A	G	13: 102,761,293		probably null	Het
Mst1r	G	A	9: 107,913,239	V684M	probably benign	Het
Naa15	T	C	3: 51,471,514	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,494,223	L330S	probably damaging	Het
Nav2	A	G	7: 49,597,533	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,827,463		probably null	Het
Olfr1199	T	C	2: 88,756,108	D189G	probably damaging	Het
Olfr503	G	A	7: 108,544,995	V155I	probably benign	Het
Olfr622	T	C	7: 103,639,297	Y281C	probably damaging	Het
Opa1	T	A	16: 29,625,514	N839K	probably benign	Het
Pcdha7	T	C	18: 36,973,942	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,474,261	V182A	probably benign	Het
Phf10	A	T	17: 14,956,007	I128N	probably damaging	Het
Plce1	T	A	19: 38,748,521		probably null	Het
Plxnb2	T	C	15: 89,164,426	N626S	probably benign	Het
Prh1	G	A	6: 132,572,033	G168R	unknown	Het
Prss51	A	G	14: 64,097,406	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,156,184	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,431,541	K512R	probably benign	Het
Serpina1b	A	C	12: 103,735,037		probably null	Het
Setbp1	T	C	18: 78,857,390	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,655,419		probably null	Het
Snrnp200	C	T	2: 127,221,827	T642I	probably benign	Het
Tenm4	A	C	7: 96,843,044	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,546,046	A29V	probably benign	Het
Tfeb	T	C	17: 47,789,702	V140A	probably damaging	Het
Tmem104	A	T	11: 115,243,753	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,783,768	H1096Q	probably benign	Het
Trim12c	A	T	7: 104,348,324	N8K	probably benign	Het
Tti2	A	G	8: 31,153,603	I249V	probably null	Het
Vps8	T	A	16: 21,442,379	L90I	probably damaging	Het
Vwf	A	T	6: 125,662,963		probably null	Het
Wdfy4	A	G	14: 33,146,944	S376P	probably damaging	Het

Other mutations in Clec4g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Clec4g	APN	8	3716410	intron	probably benign
IGL01090:Clec4g	APN	8	3719482	missense	probably damaging	1.00
IGL01331:Clec4g	APN	8	3717190	splice site	probably benign
IGL01593:Clec4g	APN	8	3719474	critical splice donor site	probably null
IGL02942:Clec4g	APN	8	3718356	missense	probably damaging	0.96
IGL03176:Clec4g	APN	8	3718441	missense	possibly damaging	0.90
R0071:Clec4g	UTSW	8	3717489	start gained	probably benign
R0379:Clec4g	UTSW	8	3718440	missense	probably benign	0.00
R4571:Clec4g	UTSW	8	3718766	critical splice donor site	probably null
R4854:Clec4g	UTSW	8	3716534	missense	probably damaging	1.00
R4856:Clec4g	UTSW	8	3716419	intron	probably benign
R4886:Clec4g	UTSW	8	3716419	intron	probably benign
R5370:Clec4g	UTSW	8	3718344	missense	probably benign	0.13
R5390:Clec4g	UTSW	8	3718441	missense	probably benign	0.02
R6737:Clec4g	UTSW	8	3707716	utr 3 prime	probably benign
R7097:Clec4g	UTSW	8	3719518	missense	possibly damaging	0.58
Z1088:Clec4g	UTSW	8	3707796	utr 3 prime	probably benign
Z1088:Clec4g	UTSW	8	3716548	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCTGAGGCTGGAAAGAC -3'
(R):5'- AGGTTTGCCTGAGACATCG -3'

Sequencing Primer
(F):5'- TGAGGCTGGAAAGACCCCAC -3'
(R):5'- GTTTGCCTGAGACATCGGAAATC -3'

Posted On

2018-06-06