Mutagenetix > Incidental Mutations

Incidental Mutation 'R4571:Clec4g'

343373

Institutional Source

Beutler Lab

Gene Symbol

Clec4g

Ensembl Gene

ENSMUSG00000074491

Gene Name

C-type lectin domain family 4, member g

Synonyms

4930572L20Rik

MMRRC Submission

041795-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3707064-3720651 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 3718766 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059574 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058040

Predicted Effect

probably null
Transcript: ENSMUST00000062037

SMART Domains

Protein: ENSMUSP00000059574
Gene: ENSMUSG00000074491

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

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	A	6: 96,164,881	N394I	probably damaging	Het
Abca8a	A	T	11: 110,030,058	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,877,807	G163W	probably damaging	Het
Apbb1	T	A	7: 105,573,762	N214I	probably damaging	Het
Apol7b	T	C	15: 77,423,534	K254E	probably benign	Het
Arl4d	T	A	11: 101,667,143	V165E	possibly damaging	Het
Brca1	C	A	11: 101,517,366	R1377L	probably benign	Het
Btf3	A	G	13: 98,313,284	F65L	probably benign	Het
C2	T	C	17: 34,863,659	N495D	probably benign	Het
Cacna1c	T	C	6: 118,630,380	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217	D796E	probably benign	Het
Clasp2	G	T	9: 113,847,721	L173F	probably damaging	Het
Col9a3	T	C	2: 180,616,366		probably benign	Het
Csmd2	T	A	4: 128,480,095		probably null	Het
Ddx11	T	C	17: 66,130,773	C165R	probably benign	Het
Dnah7c	A	C	1: 46,533,216	M950L	probably damaging	Het
Dusp23	A	C	1: 172,632,614		probably null	Het
Ebag9	A	T	15: 44,636,762		probably null	Het
Edn3	G	A	2: 174,781,904	A211T	probably benign	Het
Eif3e	G	A	15: 43,266,162	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,920,897	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,054,236	E138*	probably null	Het
Galc	T	C	12: 98,222,617	T412A	probably benign	Het
Gimap3	T	C	6: 48,765,720	D92G	possibly damaging	Het
Gin1	T	C	1: 97,785,076	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,848,718		noncoding transcript	Het
Gm7052	T	A	17: 22,040,424		probably benign	Het
Gpcpd1	T	A	2: 132,550,350	E226D	probably benign	Het
Hoxb4	T	C	11: 96,319,166	S133P	possibly damaging	Het
Hrg	C	T	16: 22,961,222		probably benign	Het
Insrr	A	G	3: 87,800,887	K212R	probably benign	Het
Ipp	A	G	4: 116,530,458	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnq3	A	G	15: 66,030,612	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110	F616S	probably damaging	Het
Lars	T	C	18: 42,228,230		probably null	Het
Lmo7	G	T	14: 101,887,594	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,734,091	A432S	probably benign	Het
Nop2	T	G	6: 125,140,881		probably null	Het
Olfr1029	A	T	2: 85,975,831	E196V	probably damaging	Het
Olfr1115	C	A	2: 87,252,458	Q174K	possibly damaging	Het
Olfr420	A	T	1: 174,158,928	N52Y	possibly damaging	Het
Olfr90	T	C	17: 37,085,579	I195M	probably damaging	Het
Pan2	A	G	10: 128,308,643	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,842,424	E9G	possibly damaging	Het
Pik3cb	T	A	9: 99,090,257	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,613,409	T40I	probably damaging	Het
Plxna2	T	C	1: 194,810,988	V1857A	possibly damaging	Het
Polg	T	C	7: 79,460,379	S334G	probably damaging	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,704,236		noncoding transcript	Het
Slc6a18	A	T	13: 73,666,370	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,464,378	T118S	probably benign	Het
Smg1	A	T	7: 118,139,465	N3520K	possibly damaging	Het
Tapbp	C	A	17: 33,926,453	D415E	probably damaging	Het
Topaz1	A	G	9: 122,747,436	T31A	probably benign	Het
Trpv6	C	T	6: 41,621,744	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,088,518	Y214C	probably benign	Het
Vps8	T	A	16: 21,435,775	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,331,337	C354R	probably damaging	Het
Zcchc2	A	G	1: 106,031,257	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,793,202	R294G	probably damaging	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,215,741	S220R	probably damaging	Het
Zfp62	G	T	11: 49,215,742	S220I	probably damaging	Het
Zp3r	A	G	1: 130,578,020	S423P	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
bluedog	UTSW	8	3718766	critical splice donor site	probably null
R0071:Clec4g	UTSW	8	3717489	start gained	probably benign
R0379:Clec4g	UTSW	8	3718440	missense	probably benign	0.00
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
R6522:Clec4g	UTSW	8	3718803	missense	probably benign	0.11
R6737:Clec4g	UTSW	8	3707716	utr 3 prime	probably benign
R7097:Clec4g	UTSW	8	3719518	missense	possibly damaging	0.58
R7834:Clec4g	UTSW	8	3716500	missense	probably damaging	1.00
R8372:Clec4g	UTSW	8	3707990	utr 3 prime	probably benign
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'- TGCAGGCTCCGATATCATCC -3'
(R):5'- AGGTTTGCCTGAGACATCGG -3'

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

Posted On

2015-09-24