Incidental Mutation 'IGL01419:Cd300lf'
ID 80307
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: 0.071) question?
Stock # IGL01419
Quality Score
Status
Chromosome 11
Chromosomal Location 115007040-115024818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115017180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 48 (K48E)
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: K48E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: K48E

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: K48E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: K48E

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: K48E

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798
AA Change: K48E

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: ENSMUST00000149335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146254
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gnat1 C T 9: 107,556,633 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Plekhh2 A T 17: 84,890,980 (GRCm39) probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkacb A T 3: 146,461,448 (GRCm39) M1K probably null Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tie1 T C 4: 118,333,295 (GRCm39) D857G probably damaging Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zdhhc6 A G 19: 55,298,186 (GRCm39) F224L probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign Het
Other mutations in Cd300lf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Cd300lf APN 11 115,015,159 (GRCm39) missense probably benign 0.34
IGL01364:Cd300lf APN 11 115,017,176 (GRCm39) missense probably benign 0.16
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 2013-11-05