Incidental Mutation 'R1944:Clec11a'
ID 216457
Institutional Source Beutler Lab
Gene Symbol Clec11a
Ensembl Gene ENSMUSG00000004473
Gene Name C-type lectin domain family 11, member a
Synonyms Scgf, Clecsf3
MMRRC Submission 039962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1944 (G1)
Quality Score 196
Status Not validated
Chromosome 7
Chromosomal Location 43953190-43956383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43954098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 285 (T285K)
Ref Sequence ENSEMBL: ENSMUSP00000004587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004587]
AlphaFold O88200
Predicted Effect probably benign
Transcript: ENSMUST00000004587
AA Change: T285K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000004587
Gene: ENSMUSG00000004473
AA Change: T285K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 75 93 N/A INTRINSIC
low complexity region 95 109 N/A INTRINSIC
CLECT 182 325 1.7e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206467
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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 superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone volume in limb bones and vertebrae, reduced bone strength, and delayed fracture healing. Bone marrow stromal cells display impaired osteogenic differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,980,796 (GRCm39) N593Y probably damaging Het
Adamts16 C T 13: 70,940,005 (GRCm39) S406N possibly damaging Het
Adgrg1 G A 8: 95,733,928 (GRCm39) V350I probably damaging Het
Adgrv1 A T 13: 81,659,030 (GRCm39) D2051E probably damaging Het
Adrb2 C A 18: 62,312,484 (GRCm39) V114L probably damaging Het
Ago3 A G 4: 126,247,520 (GRCm39) V599A probably damaging Het
AI837181 T C 19: 5,476,257 (GRCm39) V140A probably damaging Het
Ankrd16 T A 2: 11,788,443 (GRCm39) probably null Het
Arnt2 A G 7: 83,992,959 (GRCm39) S194P probably benign Het
Art2b T C 7: 101,229,153 (GRCm39) N249D probably benign Het
Atat1 A G 17: 36,220,232 (GRCm39) L60P probably damaging Het
Atp2b1 A T 10: 98,858,793 (GRCm39) I1159F probably damaging Het
Atrip T A 9: 108,900,935 (GRCm39) I135F probably damaging Het
Bbs4 T G 9: 59,237,698 (GRCm39) probably null Het
Bdp1 A T 13: 100,210,889 (GRCm39) probably null Het
Best2 A G 8: 85,737,390 (GRCm39) probably null Het
Cacna1c A G 6: 118,583,227 (GRCm39) I1516T probably damaging Het
Cadps2 T C 6: 23,599,479 (GRCm39) I276V probably damaging Het
Carmil3 T C 14: 55,736,087 (GRCm39) S610P probably damaging Het
Caskin1 A G 17: 24,719,745 (GRCm39) I375V probably damaging Het
Ccdc168 G A 1: 44,101,009 (GRCm39) P30S probably damaging Het
Ccdc92b A G 11: 74,520,835 (GRCm39) I46V probably benign Het
Clk3 G T 9: 57,672,469 (GRCm39) T111K probably benign Het
Col6a6 G A 9: 105,586,583 (GRCm39) R1813C probably damaging Het
Col7a1 G A 9: 108,789,078 (GRCm39) V798I unknown Het
Ctrb1 C A 8: 112,416,151 (GRCm39) W45L probably damaging Het
Cubn T A 2: 13,283,349 (GRCm39) S3530C probably benign Het
Dio1 A G 4: 107,163,977 (GRCm39) probably null Het
Dock5 A T 14: 67,994,584 (GRCm39) Y1825* probably null Het
Duox1 A T 2: 122,177,001 (GRCm39) Q1476L probably damaging Het
Dync2h1 A T 9: 7,001,377 (GRCm39) H3877Q probably damaging Het
Enkd1 A G 8: 106,434,208 (GRCm39) S85P probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Ern1 A G 11: 106,312,776 (GRCm39) S202P probably damaging Het
F11r T C 1: 171,289,459 (GRCm39) Y261H probably damaging Het
Glp2r A T 11: 67,637,618 (GRCm39) S138T probably benign Het
Gpt2 A G 8: 86,244,625 (GRCm39) Y306C probably damaging Het
Grid2 G C 6: 63,886,045 (GRCm39) R147P probably damaging Het
Gtdc1 A G 2: 44,642,198 (GRCm39) F128L possibly damaging Het
H2-T15 A G 17: 36,368,897 (GRCm39) F61S probably damaging Het
Hacd4 T C 4: 88,341,303 (GRCm39) T154A possibly damaging Het
Heatr6 G T 11: 83,660,046 (GRCm39) L530F probably damaging Het
Hoxd8 A T 2: 74,537,056 (GRCm39) D256V probably damaging Het
Ints6 T C 14: 62,931,089 (GRCm39) N865D probably benign Het
Itpkc G T 7: 26,927,084 (GRCm39) P277T possibly damaging Het
Klc4 T C 17: 46,947,553 (GRCm39) N383S probably damaging Het
Klra6 T C 6: 129,995,908 (GRCm39) Y150C possibly damaging Het
Krt32 T A 11: 99,975,670 (GRCm39) probably null Het
Krt33a T C 11: 99,903,535 (GRCm39) N199S probably benign Het
Krt39 A C 11: 99,410,649 (GRCm39) D174E probably damaging Het
Krt82 G A 15: 101,456,970 (GRCm39) R137W probably damaging Het
Lgmn A T 12: 102,368,183 (GRCm39) S193T probably damaging Het
Limch1 G A 5: 67,156,442 (GRCm39) R300H probably damaging Het
Lrpap1 T A 5: 35,254,974 (GRCm39) I221F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Macf1 T C 4: 123,264,459 (GRCm39) D4883G probably damaging Het
Man2b2 A G 5: 36,973,524 (GRCm39) V485A probably benign Het
Map3k19 T C 1: 127,750,859 (GRCm39) T831A probably benign Het
Mdfic2 A G 6: 98,225,151 (GRCm39) I44T probably benign Het
Megf6 C G 4: 154,340,523 (GRCm39) D471E possibly damaging Het
Mettl8 A T 2: 70,803,623 (GRCm39) F268L probably damaging Het
Miip T C 4: 147,950,422 (GRCm39) E58G probably benign Het
Mycbp2 T A 14: 103,466,840 (GRCm39) S1308C probably damaging Het
Myo15a T C 11: 60,392,909 (GRCm39) F2194L probably damaging Het
Nav3 T C 10: 109,552,391 (GRCm39) N1817S probably damaging Het
Ndel1 A T 11: 68,720,746 (GRCm39) H313Q probably benign Het
Neb A T 2: 52,118,862 (GRCm39) H3931Q probably benign Het
Nfkb2 T A 19: 46,296,491 (GRCm39) V253E probably damaging Het
Niban1 T C 1: 151,571,979 (GRCm39) I308T probably damaging Het
Nono T C X: 100,485,429 (GRCm39) probably null Het
Npc1l1 T A 11: 6,164,588 (GRCm39) I1154F possibly damaging Het
Nr2e1 T C 10: 42,448,774 (GRCm39) T155A probably benign Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or2b2 A T 13: 21,887,287 (GRCm39) I39F possibly damaging Het
Pdap1 G A 5: 145,069,726 (GRCm39) T93I probably benign Het
Pde6c T A 19: 38,145,967 (GRCm39) D418E probably damaging Het
Pdha1 T A X: 158,910,354 (GRCm39) D255V probably damaging Het
Polr2h T A 16: 20,537,796 (GRCm39) D64E probably benign Het
Psmb3 T C 11: 97,601,981 (GRCm39) F117S probably benign Het
Ptprq A T 10: 107,418,249 (GRCm39) M1709K probably benign Het
Rbm15 C T 3: 107,238,868 (GRCm39) R510H probably damaging Het
Rgs7 A T 1: 174,980,769 (GRCm39) M85K possibly damaging Het
Rpl27-ps3 T A 18: 6,332,669 (GRCm39) V13D probably damaging Het
Rtp2 T A 16: 23,746,316 (GRCm39) D105V possibly damaging Het
Scd3 T C 19: 44,224,219 (GRCm39) Y151H probably benign Het
Slc30a6 T G 17: 74,715,858 (GRCm39) V106G probably damaging Het
Slco1a4 T C 6: 141,785,276 (GRCm39) I105V probably benign Het
Sun3 T C 11: 8,988,296 (GRCm39) I9V probably benign Het
Syne2 T C 12: 76,121,318 (GRCm39) V5928A probably damaging Het
Tbr1 T A 2: 61,642,600 (GRCm39) S622T probably damaging Het
Tgm3 A G 2: 129,871,889 (GRCm39) N306D probably damaging Het
Tmem132d A G 5: 127,860,828 (GRCm39) *1098Q probably null Het
Tmem140 T C 6: 34,849,747 (GRCm39) Y88H probably damaging Het
Trim60 A T 8: 65,453,964 (GRCm39) V95E possibly damaging Het
Vamp3 A G 4: 151,140,617 (GRCm39) probably null Het
Vmn1r235 A C 17: 21,481,785 (GRCm39) T37P probably damaging Het
Vmn2r81 T G 10: 79,129,571 (GRCm39) L821V probably damaging Het
Vmn2r97 A G 17: 19,160,500 (GRCm39) D545G probably benign Het
Vps13c A T 9: 67,793,558 (GRCm39) D437V probably damaging Het
Wtip A T 7: 33,818,363 (GRCm39) M268K probably benign Het
Zfhx2 G T 14: 55,312,189 (GRCm39) F168L probably benign Het
Zscan22 G A 7: 12,637,767 (GRCm39) R53K probably damaging Het
Other mutations in Clec11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0038:Clec11a UTSW 7 43,955,906 (GRCm39) unclassified probably benign
R0038:Clec11a UTSW 7 43,955,906 (GRCm39) unclassified probably benign
R1456:Clec11a UTSW 7 43,955,874 (GRCm39) missense possibly damaging 0.63
R5093:Clec11a UTSW 7 43,954,150 (GRCm39) missense probably damaging 1.00
R5138:Clec11a UTSW 7 43,954,062 (GRCm39) missense probably benign
R5642:Clec11a UTSW 7 43,955,832 (GRCm39) missense possibly damaging 0.76
R6126:Clec11a UTSW 7 43,954,345 (GRCm39) missense probably damaging 0.99
R7457:Clec11a UTSW 7 43,955,379 (GRCm39) missense probably benign 0.22
R7513:Clec11a UTSW 7 43,955,780 (GRCm39) missense probably benign 0.34
R8750:Clec11a UTSW 7 43,955,323 (GRCm39) missense probably benign 0.19
R9155:Clec11a UTSW 7 43,954,317 (GRCm39) missense probably damaging 1.00
R9345:Clec11a UTSW 7 43,956,189 (GRCm39) start codon destroyed probably null 0.89
X0017:Clec11a UTSW 7 43,955,262 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGCACTAGAGCTCCTGG -3'
(R):5'- TTGGCCACAAGTGCTTCCTG -3'

Sequencing Primer
(F):5'- ACTAGAGCTCCTGGGCAGAGAC -3'
(R):5'- TGGGAGCTTAGCACAGCCTG -3'
Posted On 2014-08-01