Incidental Mutation 'IGL03003:Dcstamp'
ID407415
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: 0.522) question?
Stock #IGL03003
Quality Score
Status
Chromosome15
Chromosomal Location39745930-39760938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39754510 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
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: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: V105A

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: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227792
AA Change: V105A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228556
AA Change: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,743,772 P577L probably damaging Het
Aff3 A T 1: 38,209,570 S819T probably damaging Het
Aftph G T 11: 20,726,982 S209* probably null Het
Astn1 T A 1: 158,612,395 D844E probably benign Het
Cc2d2a A G 5: 43,671,266 K29E probably benign Het
Ccdc93 T C 1: 121,463,117 S273P possibly damaging Het
Cd200r3 G T 16: 44,943,775 M1I probably null Het
Cd200r3 C A 16: 44,943,776 H2N probably benign Het
Col7a1 G A 9: 108,974,956 probably null Het
Cyp3a41a T A 5: 145,705,830 M240L probably benign Het
D430042O09Rik A T 7: 125,851,960 I1088F probably damaging Het
Dmbt1 C A 7: 131,082,679 P635Q probably benign Het
Dsg1a T A 18: 20,336,819 M634K probably benign Het
Farp2 T C 1: 93,567,418 Y138H probably damaging Het
Fga T C 3: 83,032,730 S564P probably damaging Het
Gbf1 T C 19: 46,255,655 L142S probably damaging Het
Gm5422 T C 10: 31,250,844 noncoding transcript Het
Helz2 A G 2: 181,240,253 V249A probably damaging Het
Hmcn2 C A 2: 31,433,486 T4204K probably damaging Het
Ift81 T C 5: 122,594,662 I270V probably benign Het
Kif6 C T 17: 49,753,871 R411* probably null Het
Klhl35 T A 7: 99,470,343 V345D probably damaging Het
Mcm3ap C A 10: 76,504,697 D1531E probably benign Het
Muc5b C A 7: 141,863,614 D3432E probably benign Het
Nipbl A T 15: 8,350,314 V998D probably damaging Het
Nlrc3 C A 16: 3,964,862 V228L probably benign Het
Nrap T C 19: 56,321,952 H1456R probably damaging Het
Nt5c1b C T 12: 10,374,910 A210V possibly damaging Het
Olfr364-ps1 T C 2: 37,146,452 V80A probably benign Het
Olfr46 A G 7: 140,610,370 Y60C probably damaging Het
Osbpl7 T C 11: 97,050,695 Y15H probably benign Het
Pde8b T A 13: 95,041,957 N552Y probably damaging Het
Pi4kb T A 3: 94,984,812 S280T probably benign Het
Pkd1 T A 17: 24,593,603 probably null Het
Polh A T 17: 46,194,366 V108E possibly damaging Het
Prob1 A G 18: 35,653,375 S609P possibly damaging Het
Ptprz1 T A 6: 23,002,583 N1557K probably damaging Het
Rev1 A C 1: 38,088,073 F369V possibly damaging Het
Rgma A G 7: 73,417,440 N148D probably damaging Het
Robo3 A G 9: 37,419,291 L1003S probably damaging Het
Sdhb T C 4: 140,973,000 V137A probably damaging Het
Sema6c T C 3: 95,169,614 L337P probably damaging Het
Shc4 A T 2: 125,723,333 Y15* probably null Het
Slc4a9 T C 18: 36,536,893 S722P probably damaging Het
Smarcc1 A G 9: 110,206,100 N864D probably damaging Het
Sspo T C 6: 48,455,087 L745P probably damaging Het
Syce1l A G 8: 113,654,067 D137G probably damaging Het
Tbc1d1 G T 5: 64,316,438 W768L probably damaging Het
Tmbim7 A G 5: 3,661,887 D7G probably benign Het
Tmem109 A C 19: 10,874,331 S64A probably benign Het
Tnfrsf21 A G 17: 43,039,943 R333G probably damaging Het
Ttn T G 2: 76,781,611 S17316R probably damaging Het
Usp10 A G 8: 119,954,810 T668A possibly damaging Het
Xirp2 T A 2: 67,515,562 F2716I 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
IGL02607:Dcstamp APN 15 39754584 missense possibly damaging 0.94
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 unclassified 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
Z1177:Dcstamp UTSW 15 39759596 missense probably benign 0.03
Posted On2016-08-02