Incidental Mutation 'IGL02370:Clec12a'
ID290883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec12a
Ensembl Gene ENSMUSG00000053063
Gene NameC-type lectin domain family 12, member a
SynonymsMicl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02370
Quality Score
Status
Chromosome6
Chromosomal Location129342691-129365303 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129354576 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 160 (A160V)
Ref Sequence ENSEMBL: ENSMUSP00000063627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065289
AA Change: A160V

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: A160V

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
CLECT 133 247 1.22e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147106
Predicted Effect probably benign
Transcript: ENSMUST00000151671
AA Change: A160V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063
AA Change: A160V

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
SCOP:d2afpa_ 127 179 6e-8 SMART
Blast:CLECT 136 179 3e-24 BLAST
Coding Region Coverage
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-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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Clec12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0491:Clec12a UTSW 6 129364053 missense probably benign 0.01
R1551:Clec12a UTSW 6 129350421 start codon destroyed probably damaging 1.00
R1827:Clec12a UTSW 6 129353799 missense probably damaging 1.00
R1828:Clec12a UTSW 6 129353799 missense probably damaging 1.00
R1959:Clec12a UTSW 6 129350481 missense possibly damaging 0.91
R1961:Clec12a UTSW 6 129350481 missense possibly damaging 0.91
R4280:Clec12a UTSW 6 129363929 missense probably damaging 1.00
R4392:Clec12a UTSW 6 129353464 splice site probably benign
R4658:Clec12a UTSW 6 129354530 missense probably damaging 1.00
R4922:Clec12a UTSW 6 129359478 missense probably damaging 1.00
R4959:Clec12a UTSW 6 129353665 missense probably benign 0.10
R4973:Clec12a UTSW 6 129353665 missense probably benign 0.10
R6246:Clec12a UTSW 6 129353770 missense possibly damaging 0.84
R6450:Clec12a UTSW 6 129353403 missense probably damaging 1.00
R7494:Clec12a UTSW 6 129353399 missense possibly damaging 0.53
Posted On2015-04-16