Incidental Mutation 'IGL01364:Cd300lf'
ID 75853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300lf
Ensembl Gene ENSMUSG00000047798
Gene Name CD300 molecule like family member F
Synonyms IREM1, IgSF13, F730004D16Rik, Pigr3, CLM-1, LMIR3, DIgR2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01364
Quality Score
Status
Chromosome 11
Chromosomal Location 115007040-115024818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115017176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000102172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051264] [ENSMUST00000067754] [ENSMUST00000106561] [ENSMUST00000106562]
AlphaFold Q6SJQ7
Predicted Effect probably benign
Transcript: ENSMUST00000051264
AA Change: D49G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: D49G

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: D49G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: D49G

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
AA Change: D49G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798
AA Change: D49G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 (GRCm39) probably null Het
Acot6 T C 12: 84,147,840 (GRCm39) V32A possibly damaging Het
Aff3 A T 1: 38,574,762 (GRCm39) L73I probably damaging Het
Aldh1l2 C A 10: 83,328,531 (GRCm39) D729Y probably damaging Het
Alox15 T C 11: 70,235,992 (GRCm39) Q525R possibly damaging Het
Atr T C 9: 95,747,677 (GRCm39) Y320H probably benign Het
Atxn3 C T 12: 101,900,682 (GRCm39) probably benign Het
Caprin2 C A 6: 148,774,526 (GRCm39) S262I probably benign Het
Ccar1 T C 10: 62,612,653 (GRCm39) probably null Het
Ccdc14 T A 16: 34,543,583 (GRCm39) L647H probably damaging Het
Csmd2 A G 4: 128,308,081 (GRCm39) T1280A probably benign Het
Ddb1 T C 19: 10,605,024 (GRCm39) probably null Het
Dnah9 A G 11: 66,046,285 (GRCm39) Y88H probably damaging Het
Enpp1 T C 10: 24,540,512 (GRCm39) T351A probably damaging Het
Evi2b T A 11: 79,407,449 (GRCm39) Y42F probably benign Het
Fdps A T 3: 89,001,577 (GRCm39) C274* probably null Het
Flnb A C 14: 7,934,562 (GRCm38) probably null Het
Herc1 T A 9: 66,306,643 (GRCm39) V917E probably benign Het
Hmcn2 C T 2: 31,251,826 (GRCm39) Q854* probably null Het
Hmgxb3 T C 18: 61,279,506 (GRCm39) Y769C probably damaging Het
Hps3 G T 3: 20,057,469 (GRCm39) Q772K possibly damaging Het
Ifnab T C 4: 88,608,987 (GRCm39) S160G probably damaging Het
Kalrn T C 16: 34,082,999 (GRCm39) E652G probably damaging Het
Kat6a T C 8: 23,397,716 (GRCm39) L255S probably damaging Het
Kbtbd7 T A 14: 79,665,486 (GRCm39) D439E possibly damaging Het
Kcnn4 T C 7: 24,081,128 (GRCm39) F289L probably benign Het
Mapk6 A C 9: 75,296,072 (GRCm39) D475E possibly damaging Het
Msh5 A G 17: 35,247,745 (GRCm39) V825A possibly damaging Het
Mst1 A G 9: 107,958,800 (GRCm39) I111V probably benign Het
Myo1h T A 5: 114,486,500 (GRCm39) I586N probably damaging Het
Or4k36 G T 2: 111,146,015 (GRCm39) A64S probably damaging Het
Panx1 C T 9: 14,932,761 (GRCm39) V80M probably damaging Het
Polr3b T A 10: 84,531,533 (GRCm39) I803N probably benign Het
Rasa4 T C 5: 136,124,425 (GRCm39) V158A possibly damaging Het
Rbp3 T A 14: 33,676,145 (GRCm39) M31K possibly damaging Het
Rpl3l A G 17: 24,951,404 (GRCm39) K154E probably benign Het
Sec24a A T 11: 51,604,356 (GRCm39) probably null Het
Sox5 C T 6: 144,062,198 (GRCm39) M151I probably damaging Het
Sun1 T A 5: 139,220,496 (GRCm39) L290Q probably damaging Het
Tm9sf2 T A 14: 122,380,872 (GRCm39) I155N probably damaging Het
Trmt9b A G 8: 36,979,501 (GRCm39) K368R probably benign Het
Tuft1 A G 3: 94,542,810 (GRCm39) probably benign Het
Ubash3b A G 9: 40,929,311 (GRCm39) probably null Het
Vwa1 A G 4: 155,855,200 (GRCm39) probably null Het
Wnk1 T C 6: 119,914,372 (GRCm39) E80G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Cd300lf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Cd300lf APN 11 115,015,159 (GRCm39) missense probably benign 0.34
IGL01419:Cd300lf APN 11 115,017,180 (GRCm39) missense probably benign 0.32
IGL01812:Cd300lf APN 11 115,011,114 (GRCm39) missense probably damaging 0.98
IGL03217:Cd300lf APN 11 115,015,117 (GRCm39) missense possibly damaging 0.80
R1889:Cd300lf UTSW 11 115,011,206 (GRCm39) missense probably benign 0.01
R3899:Cd300lf UTSW 11 115,015,177 (GRCm39) missense probably damaging 1.00
R4180:Cd300lf UTSW 11 115,015,089 (GRCm39) missense possibly damaging 0.55
R5362:Cd300lf UTSW 11 115,007,940 (GRCm39) missense probably damaging 1.00
R5865:Cd300lf UTSW 11 115,017,126 (GRCm39) missense probably damaging 0.99
R6267:Cd300lf UTSW 11 115,015,195 (GRCm39) missense probably benign 0.05
R6296:Cd300lf UTSW 11 115,015,195 (GRCm39) missense probably benign 0.05
R8920:Cd300lf UTSW 11 115,017,180 (GRCm39) missense probably benign 0.32
R8946:Cd300lf UTSW 11 115,024,738 (GRCm39) start gained probably benign
R9380:Cd300lf UTSW 11 115,015,153 (GRCm39) missense probably benign 0.09
R9548:Cd300lf UTSW 11 115,007,858 (GRCm39) missense probably benign
Posted On 2013-10-07