Incidental Mutation 'R9678:Clec12a'
ID 735769
Institutional Source Beutler Lab
Gene Symbol Clec12a
Ensembl Gene ENSMUSG00000053063
Gene Name C-type lectin domain family 12, member a
Synonyms Micl
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9678 (G1)
Quality Score 173.009
Status Not validated
Chromosome 6
Chromosomal Location 129342691-129365303 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 129353665 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 70 (T70K)
Ref Sequence ENSEMBL: ENSMUSP00000063627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065289
AA Change: T70K

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: T70K

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: T70K

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063
AA Change: T70K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,443,997 N557S probably damaging Het
Atr C T 9: 95,910,557 A1644V possibly damaging Het
C4b A G 17: 34,741,789 probably null Het
Cdca2 A T 14: 67,700,329 C292S unknown Het
Cdkn1c T C 7: 143,460,646 D21G probably benign Het
Crnkl1 A T 2: 145,919,955 S561T probably benign Het
Dock4 CGGTGC CGGTGCGGGTGC 12: 40,844,397 probably benign Het
Dock4 TGCCGG TGCCGGCGCCGG 12: 40,844,388 probably benign Het
Ehbp1 T C 11: 22,151,108 D274G possibly damaging Het
Fsd2 T C 7: 81,559,701 Y131C probably damaging Het
Gm10153 C A 7: 142,189,986 C115F unknown Het
Gm10376 A T 14: 43,015,567 M1K probably null Het
Gm10837 A T 14: 122,491,026 K105* probably null Het
H3f3a A G 1: 180,810,115 probably null Het
Igkv10-96 T A 6: 68,632,240 M24L probably benign Het
Inpp4a T C 1: 37,366,871 S157P probably damaging Het
Meaf6 A G 4: 125,102,896 N133S possibly damaging Het
Nphp3 T C 9: 104,023,487 V648A possibly damaging Het
Olfr1357 C T 10: 78,611,883 G253R probably damaging Het
Olfr181 A G 16: 58,926,277 M98T probably benign Het
Parm1 A G 5: 91,594,285 T171A possibly damaging Het
Pik3r1 G T 13: 101,702,781 R188S probably damaging Het
Rbsn T C 6: 92,211,638 H32R probably damaging Het
Sdk2 G T 11: 113,794,963 Y1910* probably null Het
Slfn8 T C 11: 83,016,897 I273M probably damaging Het
Sult1a1 C T 7: 126,674,364 V132I probably benign Het
Tagln3 T A 16: 45,724,242 Y22F probably damaging Het
Tenm4 A G 7: 96,737,412 E575G possibly damaging Het
Trim24 T C 6: 37,965,514 V987A probably damaging Het
Trpm7 C A 2: 126,844,370 V313F probably damaging Het
Trub1 A T 19: 57,458,117 N93I probably benign Het
Ugdh A G 5: 65,424,127 V60A possibly damaging Het
Ugt2b5 A C 5: 87,125,327 D493E probably damaging Het
Utrn G T 10: 12,739,415 D337E probably benign Het
Vmn2r14 A G 5: 109,216,175 L625P probably damaging Het
Vmn2r89 A G 14: 51,456,054 D287G probably benign Het
Xirp2 A T 2: 67,509,444 E676D possibly damaging Het
Zbbx A G 3: 75,139,534 L26P probably damaging Het
Other mutations in Clec12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Clec12a APN 6 129354576 missense possibly damaging 0.58
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
R8946:Clec12a UTSW 6 129363986 missense possibly damaging 0.70
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-11-14