Incidental Mutation 'IGL01707:Cd209d'
ID104632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209d
Ensembl Gene ENSMUSG00000031495
Gene NameCD209d antigen
SynonymsSIGN-R3, mSIGNR3, SIGNR3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01707
Quality Score
Status
Chromosome8
Chromosomal Location3871824-3878555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3878296 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 30 (I30V)
Ref Sequence ENSEMBL: ENSMUSP00000147198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011445] [ENSMUST00000209176]
Predicted Effect probably benign
Transcript: ENSMUST00000011445
AA Change: I30V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: I30V

DomainStartEndE-ValueType
low complexity region 54 74 N/A INTRINSIC
CLECT 106 227 2.34e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209176
AA Change: I30V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite decreased T and B cell proliferation and extramedullary hematopoiesis in the spleen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Camk2a G A 18: 60,960,050 probably null Het
Ces1d A T 8: 93,189,550 S150T possibly damaging Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dbh G A 2: 27,165,544 C10Y probably benign Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr576 T C 7: 102,965,919 I273T probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Rapsn T A 2: 91,043,240 M297K probably benign Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Cd209d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Cd209d APN 8 3877974 splice site probably null
IGL02864:Cd209d APN 8 3877122 missense probably benign 0.08
IGL03066:Cd209d APN 8 3878437 critical splice donor site probably null
IGL03297:Cd209d APN 8 3878476 missense possibly damaging 0.92
R0324:Cd209d UTSW 8 3878258 missense probably benign 0.31
R1335:Cd209d UTSW 8 3872027 missense probably damaging 1.00
R1349:Cd209d UTSW 8 3878515 unclassified probably benign
R1372:Cd209d UTSW 8 3878515 unclassified probably benign
R1507:Cd209d UTSW 8 3878453 missense possibly damaging 0.72
R1673:Cd209d UTSW 8 3877113 missense probably damaging 1.00
R2393:Cd209d UTSW 8 3878436 critical splice donor site probably null
R2567:Cd209d UTSW 8 3876327 missense probably damaging 1.00
R4907:Cd209d UTSW 8 3877948 missense probably benign 0.01
R5349:Cd209d UTSW 8 3878320 missense probably benign 0.00
R5768:Cd209d UTSW 8 3871968 missense probably benign 0.05
R5949:Cd209d UTSW 8 3877949 missense possibly damaging 0.50
R5953:Cd209d UTSW 8 3877979 splice site probably null
R6103:Cd209d UTSW 8 3878304 missense probably damaging 1.00
R7382:Cd209d UTSW 8 3877965 nonsense probably null
X0025:Cd209d UTSW 8 3877961 nonsense probably null
Posted On2014-01-21