Incidental Mutation 'IGL03217:Cd300lf'
ID413500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300lf
Ensembl Gene ENSMUSG00000047798
Gene NameCD300 molecule like family member F
SynonymsIgSF13, IREM1, CLM-1, DIgR2, LMIR3, Pigr3, F730004D16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL03217
Quality Score
Status
Chromosome11
Chromosomal Location115116214-115133992 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115124291 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 151 (T151S)
Ref Sequence ENSEMBL: ENSMUSP00000053983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051264] [ENSMUST00000067754] [ENSMUST00000106561] [ENSMUST00000106562]
PDB Structure
CLM-1 Mouse Myeloid Receptor Extracellular Domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051264
AA Change: T151S

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: T151S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 131 154 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
Pfam:SIT 187 293 1.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067754
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106561
AA Change: T158S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: T158S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 130 155 N/A INTRINSIC
low complexity region 170 191 N/A INTRINSIC
Pfam:SIT 194 299 3.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106562
SMART Domains Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 26 125 2.06e-5 SMART
low complexity region 127 150 N/A INTRINSIC
Pfam:SIT 153 259 7.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149335
Coding Region Coverage
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 CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Cd300lf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Cd300lf APN 11 115124333 missense probably benign 0.34
IGL01364:Cd300lf APN 11 115126350 missense probably benign 0.16
IGL01419:Cd300lf APN 11 115126354 missense probably benign 0.32
IGL01812:Cd300lf APN 11 115120288 missense probably damaging 0.98
R1889:Cd300lf UTSW 11 115120380 missense probably benign 0.01
R3899:Cd300lf UTSW 11 115124351 missense probably damaging 1.00
R4180:Cd300lf UTSW 11 115124263 missense possibly damaging 0.55
R5362:Cd300lf UTSW 11 115117114 missense probably damaging 1.00
R5865:Cd300lf UTSW 11 115126300 missense probably damaging 0.99
R6267:Cd300lf UTSW 11 115124369 missense probably benign 0.05
R6296:Cd300lf UTSW 11 115124369 missense probably benign 0.05
Posted On2016-08-02