Incidental Mutation 'IGL02682:Cd209c'
ID303404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209c
Ensembl Gene ENSMUSG00000040165
Gene NameCD209c antigen
SynonymsSIGNR2, mSIGNR2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02682
Quality Score
Status
Chromosome8
Chromosomal Location3940222-3954746 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3940324 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000039861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044060] [ENSMUST00000208622]
Predicted Effect probably damaging
Transcript: ENSMUST00000044060
AA Change: Y165H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039861
Gene: ENSMUSG00000040165
AA Change: Y165H

DomainStartEndE-ValueType
CLECT 48 169 7.66e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127592
SMART Domains Protein: ENSMUSP00000120433
Gene: ENSMUSG00000040165

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208902
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Hck A G 2: 153,134,134 I198V probably damaging Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Olfr592 A T 7: 103,187,014 I138F probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx16 G A 3: 10,438,175 P4L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
St8sia3 G T 18: 64,269,679 V130F probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Zglp1 A G 9: 21,066,238 S94P probably benign Het
Other mutations in Cd209c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Cd209c APN 8 3940339 missense probably damaging 1.00
IGL01340:Cd209c APN 8 3945892 missense probably benign 0.00
R1311:Cd209c UTSW 8 3945908 start codon destroyed probably benign
R1859:Cd209c UTSW 8 3944953 missense probably benign
R4374:Cd209c UTSW 8 3954635 exon noncoding transcript
R4375:Cd209c UTSW 8 3954635 exon noncoding transcript
R4377:Cd209c UTSW 8 3954635 exon noncoding transcript
R4769:Cd209c UTSW 8 3944953 missense probably benign
R4786:Cd209c UTSW 8 3945698 missense possibly damaging 0.77
R4841:Cd209c UTSW 8 3945905 missense probably benign 0.00
R4842:Cd209c UTSW 8 3945905 missense probably benign 0.00
R4869:Cd209c UTSW 8 3944077 missense probably benign 0.00
R5333:Cd209c UTSW 8 3944976 missense probably damaging 1.00
R5835:Cd209c UTSW 8 3945699 missense probably benign 0.01
R6369:Cd209c UTSW 8 3944984 missense probably damaging 1.00
R6497:Cd209c UTSW 8 3944122 missense possibly damaging 0.72
R6590:Cd209c UTSW 8 3945680 missense probably benign 0.14
R6691:Cd209c UTSW 8 3945680 missense probably benign 0.14
Posted On2015-04-16