Incidental Mutation 'R0786:Clec12b'
ID76853
Institutional Source Beutler Lab
Gene Symbol Clec12b
Ensembl Gene ENSMUSG00000030158
Gene NameC-type lectin domain family 12, member B
Synonyms
MMRRC Submission 038966-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R0786 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location129375515-129385874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129380688 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 69 (N69S)
Ref Sequence ENSEMBL: ENSMUSP00000107713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032261] [ENSMUST00000112082]
Predicted Effect probably benign
Transcript: ENSMUST00000032261
AA Change: N69S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032261
Gene: ENSMUSG00000030158
AA Change: N69S

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
CLECT 142 263 6.62e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112082
AA Change: N69S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107713
Gene: ENSMUSG00000030158
AA Change: N69S

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
CLECT 142 263 6.62e-25 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,226,852 probably benign Het
Atg2b T C 12: 105,636,508 H1592R probably benign Het
Bpifb1 C T 2: 154,202,661 A16V probably benign Het
Casc1 A G 6: 145,181,757 probably null Het
Cep57 T A 9: 13,809,870 Y271F probably damaging Het
Cfap54 A T 10: 92,967,535 N1548K possibly damaging Het
Chrna6 A T 8: 27,408,380 D103E probably benign Het
Col27a1 T C 4: 63,291,578 probably null Het
Cwh43 T A 5: 73,408,183 Y30* probably null Het
Dsg4 T C 18: 20,449,372 probably null Het
Efna3 T C 3: 89,316,573 N103S probably damaging Het
Efr3a A G 15: 65,853,551 D532G possibly damaging Het
Fam227a A T 15: 79,626,268 V395D probably benign Het
Fes T A 7: 80,386,920 D93V probably damaging Het
Gbp3 T A 3: 142,570,971 M510K possibly damaging Het
Gpr12 A T 5: 146,583,504 S44T probably damaging Het
Gpr179 T C 11: 97,343,274 N583S probably damaging Het
Hipk1 T C 3: 103,744,304 T1093A probably benign Het
Hspb1 T C 5: 135,889,243 L148P probably damaging Het
Kirrel3 A G 9: 35,034,865 N640S probably damaging Het
Mak G T 13: 41,046,069 Q365K probably benign Het
Melk A G 4: 44,303,649 Y14C unknown Het
Myh7 T C 14: 54,992,873 M1V probably null Het
Nsmf A G 2: 25,060,510 Y330C probably damaging Het
Parp14 A G 16: 35,840,802 F1592S possibly damaging Het
Pnpla6 A T 8: 3,523,317 I394F probably benign Het
Ppl T C 16: 5,089,054 R1126G probably damaging Het
Prss8 C T 7: 127,926,474 R291Q probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rasgrp1 G T 2: 117,300,499 D155E probably benign Het
Recql5 T C 11: 115,895,802 I563V probably benign Het
Rhbg C T 3: 88,244,568 M394I probably benign Het
Rnf130 A G 11: 50,087,437 D275G probably damaging Het
Smg9 T C 7: 24,420,864 F421S probably benign Het
Tgm2 T C 2: 158,124,381 E451G probably damaging Het
Tle1 T A 4: 72,199,361 T21S probably damaging Het
Tmc5 T C 7: 118,627,210 I266T possibly damaging Het
Tmigd3 T A 3: 105,917,002 C96S probably damaging Het
Trdn A T 10: 33,305,081 T361S probably benign Het
Vgll3 A T 16: 65,860,682 Q261L probably benign Het
Vmn2r104 A T 17: 20,042,725 I158K probably benign Het
Zfp964 A G 8: 69,664,081 K444E possibly damaging Het
Other mutations in Clec12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Clec12b APN 6 129385430 missense probably damaging 0.98
IGL01328:Clec12b APN 6 129379554 missense probably damaging 1.00
IGL01985:Clec12b APN 6 129382371 splice site probably benign
IGL03101:Clec12b APN 6 129379517 splice site probably null
R0662:Clec12b UTSW 6 129376237 missense probably damaging 1.00
R1468:Clec12b UTSW 6 129380640 missense probably damaging 0.98
R1468:Clec12b UTSW 6 129380640 missense probably damaging 0.98
R1513:Clec12b UTSW 6 129376302 missense probably damaging 1.00
R4757:Clec12b UTSW 6 129380692 missense probably damaging 1.00
R5566:Clec12b UTSW 6 129385475 missense probably damaging 0.99
R5643:Clec12b UTSW 6 129379960 missense probably benign
R5644:Clec12b UTSW 6 129379960 missense probably benign
R7351:Clec12b UTSW 6 129379911 critical splice donor site probably null
R7600:Clec12b UTSW 6 129376263 missense probably damaging 1.00
Predicted Primers
Posted On2013-10-16