Incidental Mutation 'IGL02132:Dcstamp'
ID 281040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcstamp
Ensembl Gene ENSMUSG00000022303
Gene Name dendrocyte expressed seven transmembrane protein
Synonyms Tm7sf4, 4833414I07Rik, DC-STAMP
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.491) question?
Stock # IGL02132
Quality Score
Status
Chromosome 15
Chromosomal Location 39745930-39760938 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39754532 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 112 (E112D)
Ref Sequence ENSEMBL: ENSMUSP00000153957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
AlphaFold Q7TNJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022913
AA Change: E112D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: E112D

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: E112D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000227792
AA Change: E112D

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228556
AA Change: E112D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,778,730 probably benign Het
4930432E11Rik C T 7: 29,563,279 noncoding transcript Het
Adcy10 T C 1: 165,572,543 V1507A probably damaging Het
Ap3b2 T A 7: 81,460,998 M1010L unknown Het
Bmp10 T C 6: 87,434,148 S308P probably benign Het
Cnih3 C A 1: 181,454,709 Y169* probably null Het
Cpsf4l A G 11: 113,699,859 S222P possibly damaging Het
Cyp2d10 G A 15: 82,404,607 probably benign Het
Fras1 C T 5: 96,781,637 Q3967* probably null Het
Gcm1 C A 9: 78,064,839 P354H possibly damaging Het
Gen1 A G 12: 11,241,866 S706P probably benign Het
Glb1l3 G T 9: 26,825,170 T532N probably benign Het
Gm5069 T A 1: 180,327,307 probably benign Het
Gzmc A C 14: 56,233,965 F40V probably benign Het
Itgb2 G T 10: 77,550,061 C286F probably damaging Het
Jak3 A G 8: 71,678,480 Y48C probably damaging Het
Lrp2 G A 2: 69,537,616 S184L probably benign Het
Myo1f T A 17: 33,579,971 N203K probably benign Het
Nrxn2 G A 19: 6,472,276 G182R probably damaging Het
Olfr1000 A C 2: 85,608,320 L197V probably benign Het
Olfr1208 A G 2: 88,897,159 V146A probably benign Het
Olfr726 T C 14: 50,084,486 N65S probably damaging Het
Otog C T 7: 46,305,479 S2692L probably damaging Het
Pde9a C T 17: 31,453,470 T34I probably benign Het
Phip T C 9: 82,881,341 T1295A possibly damaging Het
Pik3cb A G 9: 99,071,377 V451A probably benign Het
Psd2 T G 18: 36,004,756 probably benign Het
Pycr2 T C 1: 180,906,197 I118T probably damaging Het
Rnf17 T G 14: 56,421,166 M104R probably benign Het
Rp1l1 T C 14: 64,028,810 V615A probably benign Het
Sel1l3 T A 5: 53,170,405 R511W possibly damaging Het
Sis T C 3: 72,947,471 N478D probably benign Het
Trps1 T A 15: 50,822,278 S584C probably damaging Het
Vmn2r124 T C 17: 18,064,229 probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zc3h13 T C 14: 75,330,347 S1027P probably benign Het
Zfp644 A T 5: 106,635,894 I929K probably benign 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
IGL02139:Dcstamp APN 15 39754458 missense probably damaging 1.00
IGL02607:Dcstamp APN 15 39754584 missense possibly damaging 0.94
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
R9473:Dcstamp UTSW 15 39754576 missense probably damaging 1.00
Z1177:Dcstamp UTSW 15 39759596 missense probably benign 0.03
Posted On 2015-04-16