Incidental Mutation 'IGL02607:Dcstamp'
ID300324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcstamp
Ensembl Gene ENSMUSG00000022303
Gene Namedendrocyte expressed seven transmembrane protein
SynonymsTm7sf4, 4833414I07Rik, DC-STAMP
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.599) question?
Stock #IGL02607
Quality Score
Status
Chromosome15
Chromosomal Location39745930-39760938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39754584 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 130 (R130G)
Ref Sequence ENSEMBL: ENSMUSP00000153957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022913
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: R130G

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 58 75 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
Pfam:DC_STAMP 242 421 1e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227368
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227792
AA Change: R130G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228556
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000228701
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 seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Targeted disruption of this gene causes complete loss of osteoclast and macrophage cell fusion and leads to reduced bone-resorbing activity and mild osteopetrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik G A 16: 90,929,947 T98M probably damaging Het
Abca17 C T 17: 24,327,705 W307* probably null Het
Cit A G 5: 115,859,209 I84V probably benign Het
Cltc T C 11: 86,706,714 D1132G probably benign Het
Cobll1 A T 2: 65,151,085 S54T probably damaging Het
Dennd4a A G 9: 64,862,327 M439V probably damaging Het
Dnajc15 T A 14: 77,840,216 I110F probably damaging Het
Dock1 T C 7: 134,851,513 F824L probably benign Het
Eml2 A G 7: 19,206,111 H617R probably damaging Het
Fgd6 A T 10: 94,044,448 Q388L possibly damaging Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Fmnl3 A T 15: 99,324,772 L431Q probably damaging Het
Gng8 T C 7: 16,894,934 probably benign Het
Hmcn1 T A 1: 150,744,995 I1155F possibly damaging Het
Muc4 G T 16: 32,775,819 C3135F possibly damaging Het
Mycbp2 C T 14: 103,285,273 G685D probably damaging Het
Olfr1389 T C 11: 49,430,512 F12S probably damaging Het
Pcdhb8 A T 18: 37,357,581 I771F probably benign Het
Pkn2 A G 3: 142,794,101 probably null Het
Rrn3 G T 16: 13,806,563 V420L possibly damaging Het
Samm50 A T 15: 84,207,838 Y338F probably benign Het
Slc2a7 C T 4: 150,154,705 T129I probably benign Het
Tbc1d8 T C 1: 39,379,511 I806V probably benign Het
Tex2 T C 11: 106,546,747 E699G unknown Het
Vmn2r85 T C 10: 130,426,421 K150E possibly damaging Het
Other mutations in Dcstamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Dcstamp APN 15 39754416 missense probably benign 0.05
IGL01963:Dcstamp APN 15 39760359 missense possibly damaging 0.82
IGL02132:Dcstamp APN 15 39754532 missense probably damaging 0.97
IGL02139:Dcstamp APN 15 39754458 missense probably damaging 1.00
IGL03003:Dcstamp APN 15 39754510 missense possibly damaging 0.64
IGL03061:Dcstamp APN 15 39760397 missense possibly damaging 0.81
IGL03191:Dcstamp APN 15 39754224 missense probably benign 0.00
R1144:Dcstamp UTSW 15 39760368 missense possibly damaging 0.94
R1186:Dcstamp UTSW 15 39754629 splice site probably null
R1663:Dcstamp UTSW 15 39754944 nonsense probably null
R2117:Dcstamp UTSW 15 39755175 nonsense probably null
R2202:Dcstamp UTSW 15 39754312 missense probably damaging 0.99
R4484:Dcstamp UTSW 15 39754224 missense probably benign 0.00
R4642:Dcstamp UTSW 15 39754722 missense probably benign 0.01
R5384:Dcstamp UTSW 15 39759319 missense probably damaging 0.99
R5529:Dcstamp UTSW 15 39754536 missense probably benign 0.04
R5558:Dcstamp UTSW 15 39759540 missense probably damaging 1.00
R5562:Dcstamp UTSW 15 39754402 missense possibly damaging 0.88
R6261:Dcstamp UTSW 15 39754735 missense possibly damaging 0.65
R6299:Dcstamp UTSW 15 39755203 missense probably damaging 1.00
R6377:Dcstamp UTSW 15 39754921 missense probably benign 0.01
R6566:Dcstamp UTSW 15 39754336 missense possibly damaging 0.54
R6596:Dcstamp UTSW 15 39754209 missense possibly damaging 0.95
R6869:Dcstamp UTSW 15 39754458 missense probably damaging 1.00
R7030:Dcstamp UTSW 15 39759533 missense probably damaging 0.96
R7945:Dcstamp UTSW 15 39760401 makesense probably null
R8178:Dcstamp UTSW 15 39755026 missense probably damaging 1.00
R8821:Dcstamp UTSW 15 39754789 missense probably benign 0.14
Z1177:Dcstamp UTSW 15 39759596 missense probably benign 0.03
Posted On2015-04-16