Incidental Mutation 'IGL00587:Cd300c'
ID 332717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300c
Ensembl Gene ENSMUSG00000058728
Gene Name CD300C molecule
Synonyms Clm6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00587
Quality Score
Status
Chromosome 11
Chromosomal Location 114846931-114851333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114850616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 62 (N62K)
Ref Sequence ENSEMBL: ENSMUSP00000090123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061637] [ENSMUST00000092466]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000061637
AA Change: N62K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052647
Gene: ENSMUSG00000058728
AA Change: N62K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 28 133 2.48e-8 SMART
low complexity region 174 187 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092466
AA Change: N62K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090123
Gene: ENSMUSG00000058728
AA Change: N62K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 28 133 2.48e-8 SMART
low complexity region 174 187 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106580
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,143,327 (GRCm39) M365R possibly damaging Het
Atat1 T C 17: 36,208,775 (GRCm39) D352G probably benign Het
Bbs12 A G 3: 37,374,346 (GRCm39) T265A probably damaging Het
Cdk5rap3 A G 11: 96,804,225 (GRCm39) S43P probably damaging Het
Chchd6 A T 6: 89,546,399 (GRCm39) probably null Het
Cr2 C T 1: 194,836,559 (GRCm39) R868Q possibly damaging Het
Cyp2d9 T C 15: 82,339,344 (GRCm39) S126P possibly damaging Het
Dsg3 T A 18: 20,672,711 (GRCm39) I794N probably damaging Het
Fga A T 3: 82,937,596 (GRCm39) S158C possibly damaging Het
Gm14240 T C 2: 155,894,870 (GRCm39) probably null Het
Itga1 C A 13: 115,148,785 (GRCm39) V279L probably damaging Het
Kdm1b T C 13: 47,222,016 (GRCm39) V485A probably benign Het
Mfap3l T C 8: 61,124,943 (GRCm39) V395A probably benign Het
Nlrp14 T A 7: 106,780,974 (GRCm39) V57E probably benign Het
P2ry12 A T 3: 59,125,303 (GRCm39) I124K probably damaging Het
Paxip1 A G 5: 27,977,550 (GRCm39) probably benign Het
Prkdc T C 16: 15,470,222 (GRCm39) probably benign Het
Rab28 T C 5: 41,860,799 (GRCm39) R52G probably benign Het
Rrp15 T C 1: 186,453,745 (GRCm39) probably null Het
Sel1l2 G A 2: 140,085,864 (GRCm39) L539F possibly damaging Het
Ticam2 T C 18: 46,693,880 (GRCm39) E69G probably benign Het
Zcchc2 T A 1: 105,957,993 (GRCm39) S821R probably benign Het
Zcchc4 T A 5: 52,973,511 (GRCm39) S379T probably benign Het
Zfp53 T C 17: 21,728,600 (GRCm39) V211A probably benign Het
Zmym2 T G 14: 57,140,817 (GRCm39) S219A possibly damaging Het
Other mutations in Cd300c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Cd300c APN 11 114,851,253 (GRCm39) unclassified probably benign
R0325:Cd300c UTSW 11 114,850,411 (GRCm39) nonsense probably null
R1471:Cd300c UTSW 11 114,850,614 (GRCm39) missense probably benign 0.09
R2880:Cd300c UTSW 11 114,850,616 (GRCm39) missense probably benign
R3830:Cd300c UTSW 11 114,850,453 (GRCm39) missense probably benign 0.00
R6369:Cd300c UTSW 11 114,848,381 (GRCm39) missense probably damaging 1.00
R7240:Cd300c UTSW 11 114,850,609 (GRCm39) missense possibly damaging 0.93
R9087:Cd300c UTSW 11 114,850,591 (GRCm39) missense probably damaging 1.00
R9471:Cd300c UTSW 11 114,847,216 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05