Mutagenetix > Incidental Mutation

Incidental Mutation 'R4280:Clec12a'

322839

Institutional Source

Beutler Lab

Gene Symbol

Clec12a

Ensembl Gene

ENSMUSG00000053063

Gene Name

C-type lectin domain family 12, member a

Synonyms

Micl

MMRRC Submission

041648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129327207-129342266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129340892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 224 (Y224C)

Ref Sequence

ENSEMBL: ENSMUSP00000063627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065289
AA Change: Y224C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: Y224C

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
CLECT	133	247	1.22e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133756

Predicted Effect

probably benign
Transcript: ENSMUST00000151671

SMART Domains

Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
SCOP:d2afpa_	127	179	6e-8	SMART
Blast:CLECT	136	179	3e-24	BLAST

Meta Mutation Damage Score

0.4598

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

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 signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperinflammatory responses following challenge with uric acid crystals (monosodium urate) or necrotic cells and after radiation-induced thymocyte killing. Homozygotes for a different null allele show increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap32	T	C	9: 32,171,185 (GRCm39)	C1322R	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arvcf	G	A	16: 18,216,741 (GRCm39)	R292H	probably damaging	Het
Ccdc102a	C	A	8: 95,634,444 (GRCm39)	G382*	probably null	Het
Cd274	A	T	19: 29,357,871 (GRCm39)	M188L	probably benign	Het
Cep76	T	A	18: 67,773,229 (GRCm39)	D23V	probably benign	Het
Cimip3	T	C	17: 47,724,780 (GRCm39)	M17V	probably benign	Het
Cplx2	A	G	13: 54,527,377 (GRCm39)	E87G	probably damaging	Het
Ctr9	A	G	7: 110,645,930 (GRCm39)		probably benign	Het
Dgat2	A	G	7: 98,808,204 (GRCm39)	I157T	probably damaging	Het
Epha1	G	T	6: 42,341,986 (GRCm39)	P355T	probably damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Hephl1	A	G	9: 15,023,330 (GRCm39)	V24A	probably benign	Het
Itgb4	T	A	11: 115,881,761 (GRCm39)	M771K	probably damaging	Het
Mov10	A	C	3: 104,707,095 (GRCm39)	F635V	probably damaging	Het
Mtres1	A	T	10: 43,408,905 (GRCm39)	F79L	probably benign	Het
Or10ag60	A	G	2: 87,438,595 (GRCm39)	T288A	possibly damaging	Het
Or5an9	A	G	19: 12,187,302 (GRCm39)	Y124C	probably damaging	Het
Pbrm1	T	C	14: 30,829,269 (GRCm39)		probably null	Het
Plscr1l1	T	C	9: 92,225,701 (GRCm39)	Y8H	possibly damaging	Het
Plxnd1	C	A	6: 115,933,055 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,933,056 (GRCm39)		probably null	Het
Pnma5	T	C	X: 72,079,036 (GRCm39)	M549V	probably benign	Het
Polq	C	A	16: 36,902,419 (GRCm39)	Q2205K	probably damaging	Het
Ppp4r3c1	A	T	X: 88,976,105 (GRCm39)	W31R	probably damaging	Het
Pramel24	A	G	4: 143,452,592 (GRCm39)	T8A	possibly damaging	Het
Psma8	T	A	18: 14,854,292 (GRCm39)	D57E	probably benign	Het
Rbm47	T	C	5: 66,183,520 (GRCm39)	Y361C	probably damaging	Het
Rec8	A	G	14: 55,856,091 (GRCm39)	H11R	probably damaging	Het
Ric1	A	G	19: 29,563,950 (GRCm39)	Y568C	probably damaging	Het
Rrp36	G	A	17: 46,983,302 (GRCm39)	T104I	probably damaging	Het
Rrs1	G	A	1: 9,616,364 (GRCm39)	G206S	probably damaging	Het
Scgb2b6	A	G	7: 31,318,367 (GRCm39)		noncoding transcript	Het
Skint5	T	A	4: 113,799,749 (GRCm39)	K126I	probably damaging	Het
Slc38a10	C	T	11: 120,028,704 (GRCm39)	G202D	probably damaging	Het
Supt5	G	A	7: 28,016,498 (GRCm39)	R761W	probably damaging	Het
Tmtc2	A	G	10: 105,184,294 (GRCm39)		probably null	Het
Tob1	T	C	11: 94,105,148 (GRCm39)	V228A	probably benign	Het
Traj44	T	C	14: 54,411,148 (GRCm39)		probably benign	Het
Trps1	G	A	15: 50,709,478 (GRCm39)	L291F	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ush2a	A	G	1: 188,310,658 (GRCm39)	Q2078R	probably benign	Het
Zbtb24	T	C	10: 41,340,916 (GRCm39)	S649P	probably benign	Het
Zfp28	A	T	7: 6,396,700 (GRCm39)	Q378H	probably benign	Het
Zfp429	A	C	13: 67,538,914 (GRCm39)	C177G	probably damaging	Het

Other mutations in Clec12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Clec12a	APN	6	129,331,539 (GRCm39)	missense	possibly damaging	0.58
R0491:Clec12a	UTSW	6	129,341,016 (GRCm39)	missense	probably benign	0.01
R1551:Clec12a	UTSW	6	129,327,384 (GRCm39)	start codon destroyed	probably damaging	1.00
R1827:Clec12a	UTSW	6	129,330,762 (GRCm39)	missense	probably damaging	1.00
R1828:Clec12a	UTSW	6	129,330,762 (GRCm39)	missense	probably damaging	1.00
R1959:Clec12a	UTSW	6	129,327,444 (GRCm39)	missense	possibly damaging	0.91
R1961:Clec12a	UTSW	6	129,327,444 (GRCm39)	missense	possibly damaging	0.91
R4392:Clec12a	UTSW	6	129,330,427 (GRCm39)	splice site	probably benign
R4658:Clec12a	UTSW	6	129,331,493 (GRCm39)	missense	probably damaging	1.00
R4922:Clec12a	UTSW	6	129,336,441 (GRCm39)	missense	probably damaging	1.00
R4959:Clec12a	UTSW	6	129,330,628 (GRCm39)	missense	probably benign	0.10
R4973:Clec12a	UTSW	6	129,330,628 (GRCm39)	missense	probably benign	0.10
R6246:Clec12a	UTSW	6	129,330,733 (GRCm39)	missense	possibly damaging	0.84
R6450:Clec12a	UTSW	6	129,330,366 (GRCm39)	missense	probably damaging	1.00
R7494:Clec12a	UTSW	6	129,330,362 (GRCm39)	missense	possibly damaging	0.53
R8946:Clec12a	UTSW	6	129,340,949 (GRCm39)	missense	possibly damaging	0.70
R9678:Clec12a	UTSW	6	129,330,628 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCTACGTCTGGAATCAAATGAC -3'
(R):5'- CCTACAGTTCTTCTGAGTGACAG -3'

Sequencing Primer
(F):5'- TCAAATGACAGAAAATATTCCAGAGG -3'
(R):5'- CCAAGTATTCAAATGAGCCCTTGGG -3'

Posted On

2015-06-20