Incidental Mutation 'R6129:Clec4b1'
ID 487567
Institutional Source Beutler Lab
Gene Symbol Clec4b1
Ensembl Gene ENSMUSG00000030147
Gene Name C-type lectin domain family 4, member b1
Synonyms 1810046I24Rik, 1810046I24Rik, DCARbeta, DCAR, mDcar2
MMRRC Submission 044276-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6129 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 123026921-123048514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123045461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000077636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077228] [ENSMUST00000078559]
AlphaFold Q7TS58
Predicted Effect probably benign
Transcript: ENSMUST00000077228
AA Change: T61A

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147
AA Change: T61A

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 170 2.95e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000078559
AA Change: T94A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147
AA Change: T94A

DomainStartEndE-ValueType
Blast:CLECT 26 71 1e-9 BLAST
CLECT 78 203 2.95e-31 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (54/54)
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 signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T A 11: 69,789,137 (GRCm39) Y354F probably damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Acsm2 G A 7: 119,190,470 (GRCm39) probably null Het
Adgrl1 A G 8: 84,645,616 (GRCm39) N80D probably damaging Het
Ankrd34a T A 3: 96,505,274 (GRCm39) Y159* probably null Het
Bcl2l2 G A 14: 55,122,202 (GRCm39) V122M possibly damaging Het
Brms1l A G 12: 55,914,970 (GRCm39) H293R probably benign Het
Ccn1 T C 3: 145,354,986 (GRCm39) I90V possibly damaging Het
Crim1 A G 17: 78,588,738 (GRCm39) D271G probably benign Het
Csmd2 G A 4: 128,387,127 (GRCm39) G2141S possibly damaging Het
Cspg4b T A 13: 113,505,340 (GRCm39) Y2156* probably null Het
Ctnnal1 C A 4: 56,829,573 (GRCm39) A419S possibly damaging Het
Cyp27a1 G A 1: 74,774,851 (GRCm39) R264H probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsc2 T A 18: 20,178,487 (GRCm39) T306S possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A T 19: 29,600,609 (GRCm39) Y586N possibly damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm5114 C T 7: 39,058,024 (GRCm39) A532T possibly damaging Het
Gm5431 A G 11: 48,780,418 (GRCm39) L168P probably damaging Het
Hao2 T C 3: 98,787,842 (GRCm39) T196A probably benign Het
Hdac9 A C 12: 34,337,474 (GRCm39) L669R probably damaging Het
Hps5 A G 7: 46,421,198 (GRCm39) V755A probably benign Het
Jag2 G T 12: 112,883,969 (GRCm39) Y203* probably null Het
Lrrn3 G A 12: 41,503,787 (GRCm39) Q177* probably null Het
Me1 A T 9: 86,533,009 (GRCm39) V151E probably damaging Het
Mkx A G 18: 6,992,888 (GRCm39) V132A probably damaging Het
Mycbp2 A G 14: 103,522,836 (GRCm39) S643P probably benign Het
Mysm1 C A 4: 94,856,192 (GRCm39) R135L probably damaging Het
Nup210l T C 3: 90,011,483 (GRCm39) F4L probably benign Het
Pappa2 A T 1: 158,542,567 (GRCm39) C1773* probably null Het
Pcbp3 T C 10: 76,599,182 (GRCm39) E318G probably damaging Het
Pcdh12 T C 18: 38,410,912 (GRCm39) K984E probably damaging Het
Pcna-ps2 A G 19: 9,261,379 (GRCm39) N213D possibly damaging Het
Pde8b G A 13: 95,178,467 (GRCm39) A509V probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phf7 A G 14: 30,962,820 (GRCm39) Y137H probably damaging Het
Pkd1l1 A G 11: 8,818,543 (GRCm39) V1315A probably benign Het
Plxnd1 A G 6: 115,955,135 (GRCm39) C571R probably damaging Het
Ppp1r12b C T 1: 134,819,990 (GRCm39) W251* probably null Het
Prps1l1 A G 12: 35,035,329 (GRCm39) E148G probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Robo3 A G 9: 37,334,589 (GRCm39) Y592H probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 A T 11: 50,308,075 (GRCm39) L259Q probably damaging Het
Rusc2 T C 4: 43,424,271 (GRCm39) F1112S probably damaging Het
Sap130 T C 18: 31,815,144 (GRCm39) V622A possibly damaging Het
Sptbn4 C A 7: 27,059,513 (GRCm39) C1124F probably damaging Het
Stk10 T A 11: 32,565,871 (GRCm39) C872S probably damaging Het
Tex15 A T 8: 34,064,158 (GRCm39) N1196I possibly damaging Het
Tnxa A G 17: 35,019,262 (GRCm39) probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zscan4b T A 7: 10,635,815 (GRCm39) T171S probably benign Het
Other mutations in Clec4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02817:Clec4b1 APN 6 123,045,444 (GRCm39) missense possibly damaging 0.83
R0488:Clec4b1 UTSW 6 123,048,441 (GRCm39) missense probably damaging 0.99
R0526:Clec4b1 UTSW 6 123,046,729 (GRCm39) critical splice donor site probably null
R0675:Clec4b1 UTSW 6 123,048,405 (GRCm39) missense probably damaging 0.99
R2374:Clec4b1 UTSW 6 123,027,597 (GRCm39) missense probably damaging 1.00
R2504:Clec4b1 UTSW 6 123,042,904 (GRCm39) missense probably damaging 0.98
R3609:Clec4b1 UTSW 6 123,027,591 (GRCm39) missense probably damaging 0.99
R4062:Clec4b1 UTSW 6 123,045,443 (GRCm39) missense probably benign 0.03
R4081:Clec4b1 UTSW 6 123,046,733 (GRCm39) splice site probably null
R4865:Clec4b1 UTSW 6 123,045,428 (GRCm39) missense possibly damaging 0.84
R5172:Clec4b1 UTSW 6 123,048,414 (GRCm39) missense probably benign 0.34
R5204:Clec4b1 UTSW 6 123,048,494 (GRCm39) makesense probably null
R5757:Clec4b1 UTSW 6 123,046,713 (GRCm39) nonsense probably null
R7598:Clec4b1 UTSW 6 123,048,427 (GRCm39) nonsense probably null
R8337:Clec4b1 UTSW 6 123,042,922 (GRCm39) missense probably benign 0.08
R8362:Clec4b1 UTSW 6 123,027,602 (GRCm39) missense probably benign 0.00
R8929:Clec4b1 UTSW 6 123,046,728 (GRCm39) critical splice donor site probably null
Z1188:Clec4b1 UTSW 6 123,027,005 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GTTTTGACACCAGGGTTAGGAAC -3'
(R):5'- TCTGGTGAAAAGTCTTCTGCC -3'

Sequencing Primer
(F):5'- GGGTTAGGAACTCTGGTAGC -3'
(R):5'- GGTGAAAAGTCTTCTGCCACAGC -3'
Posted On 2017-10-10