Incidental Mutation 'R6330:Clec4f'
ID 510855
Institutional Source Beutler Lab
Gene Symbol Clec4f
Ensembl Gene ENSMUSG00000014542
Gene Name C-type lectin domain family 4, member f
Synonyms kupffer cell receptor, D18063, Clecsf13
MMRRC Submission 044484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6330 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83621524-83633098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83629850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 236 (Q236R)
Ref Sequence ENSEMBL: ENSMUSP00000014686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014686]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000014686
AA Change: Q236R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000014686
Gene: ENSMUSG00000014542
AA Change: Q236R

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
coiled coil region 99 126 N/A INTRINSIC
low complexity region 390 403 N/A INTRINSIC
CLECT 412 537 5.4e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137647
Meta Mutation Damage Score 0.4405 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (46/47)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired IFN-gamma secretion from Kupffer cells stimulated with alpha-GalCer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T A 16: 88,423,939 (GRCm39) H184L probably benign Het
Ccar1 A G 10: 62,600,312 (GRCm39) Y540H probably damaging Het
Celf2 A G 2: 6,889,766 (GRCm39) F2L probably benign Het
Cfap57 T C 4: 118,426,593 (GRCm39) I1119V probably benign Het
Cstdc2 G T 2: 148,692,745 (GRCm39) A19D probably damaging Het
Cyp4a31 C T 4: 115,421,074 (GRCm39) P54L probably damaging Het
Dapk1 T C 13: 60,909,140 (GRCm39) V1251A probably benign Het
Dnah7b G A 1: 46,379,335 (GRCm39) V3690M probably damaging Het
Dock9 A T 14: 121,842,655 (GRCm39) M1K probably null Het
Emb T G 13: 117,385,666 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
F7 C T 8: 13,085,140 (GRCm39) H389Y probably damaging Het
Fam111a T A 19: 12,564,266 (GRCm39) I49K probably damaging Het
Fam50b T G 13: 34,930,652 (GRCm39) S43A probably benign Het
Gbp7 A T 3: 142,252,259 (GRCm39) Y614F probably benign Het
Gli3 T A 13: 15,899,317 (GRCm39) D901E probably damaging Het
Hhatl C T 9: 121,617,291 (GRCm39) probably null Het
Idua T A 5: 108,829,574 (GRCm39) L432H probably benign Het
Ighv10-3 T A 12: 114,487,086 (GRCm39) T112S possibly damaging Het
Kcnj6 T A 16: 94,563,460 (GRCm39) D346V possibly damaging Het
Lrba A G 3: 86,255,664 (GRCm39) D1002G probably benign Het
Lrrd1 T A 5: 3,900,629 (GRCm39) S311R probably damaging Het
Mafk A G 5: 139,784,948 (GRCm39) N4S probably benign Het
Mfsd14b T C 13: 65,243,500 (GRCm39) Y48C probably damaging Het
Mindy3 C T 2: 12,361,744 (GRCm39) A333T probably damaging Het
Mlxip G A 5: 123,533,015 (GRCm39) C8Y probably benign Het
Mthfd1l A T 10: 3,930,234 (GRCm39) M110L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Or14j7 T C 17: 38,234,685 (GRCm39) V76A possibly damaging Het
Or1af1 A T 2: 37,110,136 (GRCm39) I212F probably benign Het
Orc2 C A 1: 58,539,493 (GRCm39) V49L probably benign Het
Pfkp C T 13: 6,635,286 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,373,541 (GRCm39) F1359S probably benign Het
Ralgps1 A T 2: 33,064,455 (GRCm39) I222N probably damaging Het
Rrad T G 8: 105,356,492 (GRCm39) E136A probably benign Het
Serpine3 T C 14: 62,902,430 (GRCm39) S14P probably benign Het
Slc2a12 A G 10: 22,540,894 (GRCm39) T250A probably benign Het
Slc4a5 T G 6: 83,203,356 (GRCm39) F85L probably benign Het
Stx18 T A 5: 38,284,261 (GRCm39) probably null Het
Tbcd T C 11: 121,387,912 (GRCm39) S348P probably benign Het
Usp9y T C Y: 1,340,123 (GRCm39) T1419A probably benign Homo
Vmn2r69 T C 7: 85,060,835 (GRCm39) S250G probably benign Het
Vmn2r86 A G 10: 130,282,396 (GRCm39) V740A probably benign Het
Vwa5b2 T A 16: 20,420,727 (GRCm39) I846N probably damaging Het
Zfp74 A T 7: 29,637,412 (GRCm39) Y33N probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Other mutations in Clec4f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Clec4f APN 6 83,630,198 (GRCm39) missense possibly damaging 0.79
IGL01112:Clec4f APN 6 83,630,182 (GRCm39) missense probably benign 0.01
IGL02638:Clec4f APN 6 83,629,682 (GRCm39) missense possibly damaging 0.95
R0054:Clec4f UTSW 6 83,629,911 (GRCm39) missense probably benign 0.05
R0054:Clec4f UTSW 6 83,629,911 (GRCm39) missense probably benign 0.05
R0124:Clec4f UTSW 6 83,629,335 (GRCm39) splice site probably null
R0528:Clec4f UTSW 6 83,629,776 (GRCm39) nonsense probably null
R0894:Clec4f UTSW 6 83,629,979 (GRCm39) missense probably damaging 0.99
R1722:Clec4f UTSW 6 83,623,915 (GRCm39) missense probably benign 0.24
R2171:Clec4f UTSW 6 83,629,846 (GRCm39) missense possibly damaging 0.88
R2287:Clec4f UTSW 6 83,630,247 (GRCm39) frame shift probably null
R4296:Clec4f UTSW 6 83,629,557 (GRCm39) nonsense probably null
R4468:Clec4f UTSW 6 83,629,415 (GRCm39) missense probably damaging 1.00
R4751:Clec4f UTSW 6 83,622,264 (GRCm39) missense possibly damaging 0.55
R4967:Clec4f UTSW 6 83,633,012 (GRCm39) start codon destroyed probably null 0.28
R6013:Clec4f UTSW 6 83,632,070 (GRCm39) missense probably benign 0.00
R6182:Clec4f UTSW 6 83,622,284 (GRCm39) missense probably benign 0.01
R7337:Clec4f UTSW 6 83,630,190 (GRCm39) missense probably benign 0.11
R8166:Clec4f UTSW 6 83,629,624 (GRCm39) missense possibly damaging 0.90
R8698:Clec4f UTSW 6 83,630,267 (GRCm39) missense probably benign 0.00
X0026:Clec4f UTSW 6 83,630,099 (GRCm39) missense probably benign 0.29
Z1177:Clec4f UTSW 6 83,622,203 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CCATTTGCCTTTTGAGTCTGAG -3'
(R):5'- AAGGAATCTGGAGCCTTGGC -3'

Sequencing Primer
(F):5'- AGCAGTGAGTGTTTCCAGCTC -3'
(R):5'- AGCCTTGGCTTTGGAGACC -3'
Posted On 2018-04-02