Incidental Mutation 'IGL00587:Cd300c'
ID332717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd300c
Ensembl Gene ENSMUSG00000058728
Gene NameCD300C molecule
SynonymsClm6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL00587
Quality Score
Status
Chromosome11
Chromosomal Location114956116-114969157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114959790 bp
ZygosityHeterozygous
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]
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: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cdk5rap3 A G 11: 96,913,399 S43P probably damaging Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rab28 T C 5: 41,703,456 R52G probably benign Het
Rrp15 T C 1: 186,721,548 probably null Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Ticam2 T C 18: 46,560,813 E69G probably benign Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zcchc4 T A 5: 52,816,169 S379T probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Cd300c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Cd300c APN 11 114960427 unclassified probably benign
R0325:Cd300c UTSW 11 114959585 nonsense probably null
R1471:Cd300c UTSW 11 114959788 missense probably benign 0.09
R2880:Cd300c UTSW 11 114959790 missense probably benign
R3830:Cd300c UTSW 11 114959627 missense probably benign 0.00
R6369:Cd300c UTSW 11 114957555 missense probably damaging 1.00
R7240:Cd300c UTSW 11 114959783 missense possibly damaging 0.93
Posted On2015-08-05