Incidental Mutation 'IGL03191:Dcstamp'
ID 412651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcstamp
Ensembl Gene ENSMUSG00000022303
Gene Name dendrocyte expressed seven transmembrane protein
Synonyms 4833414I07Rik, Tm7sf4, DC-STAMP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.441) question?
Stock # IGL03191
Quality Score
Status
Chromosome 15
Chromosomal Location 39609326-39624334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39617620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 10 (I10V)
Ref Sequence ENSEMBL: ENSMUSP00000154362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
AlphaFold Q7TNJ0
Predicted Effect probably benign
Transcript: ENSMUST00000022913
AA Change: I10V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: I10V

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 probably benign
Transcript: ENSMUST00000227368
AA Change: I10V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000227792
AA Change: I10V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000228556
AA Change: I10V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect unknown
Transcript: ENSMUST00000228701
AA Change: I10V
Meta Mutation Damage Score 0.1194 question?
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,398,228 (GRCm39) D1323G probably null Het
Asxl2 A G 12: 3,550,094 (GRCm39) D612G probably damaging Het
Cacna1c A T 6: 118,718,864 (GRCm39) F395L probably damaging Het
Cct8 A G 16: 87,283,198 (GRCm39) S380P probably damaging Het
Cltb T C 13: 54,746,883 (GRCm39) E31G probably damaging Het
Cobl T C 11: 12,203,364 (GRCm39) M1031V probably benign Het
Colgalt1 C A 8: 72,075,731 (GRCm39) probably null Het
Diaph3 T C 14: 87,310,738 (GRCm39) I138V possibly damaging Het
Dnah8 T C 17: 30,945,804 (GRCm39) V1827A probably damaging Het
Dpf1 T A 7: 29,015,986 (GRCm39) probably benign Het
Dscam A T 16: 96,621,969 (GRCm39) L494Q probably benign Het
Eif2ak4 C T 2: 118,252,693 (GRCm39) H422Y probably damaging Het
Galnt10 T C 11: 57,662,326 (GRCm39) V324A probably damaging Het
Hcfc1 T C X: 72,999,220 (GRCm39) I309V probably benign Het
Il24 T C 1: 130,812,584 (GRCm39) T96A probably benign Het
Itga2 T C 13: 114,973,020 (GRCm39) probably benign Het
Lrrc32 A G 7: 98,147,454 (GRCm39) H78R possibly damaging Het
Lrrk1 T C 7: 65,909,707 (GRCm39) E2001G probably damaging Het
Lztr1 T A 16: 17,336,392 (GRCm39) M199K probably damaging Het
Mcm8 A G 2: 132,663,362 (GRCm39) Y160C possibly damaging Het
Msh4 G A 3: 153,575,245 (GRCm39) T710M probably damaging Het
Pate8 T C 9: 36,492,698 (GRCm39) D69G probably benign Het
Pilrb1 A T 5: 137,853,227 (GRCm39) L192Q probably damaging Het
Pim1 T A 17: 29,712,693 (GRCm39) probably benign Het
Slc12a1 A T 2: 125,048,009 (GRCm39) Q817L possibly damaging Het
Trip11 T C 12: 101,865,184 (GRCm39) D163G probably damaging Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Zfp641 C T 15: 98,186,568 (GRCm39) V352M probably damaging Het
Other mutations in Dcstamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Dcstamp APN 15 39,617,812 (GRCm39) missense probably benign 0.05
IGL01963:Dcstamp APN 15 39,623,755 (GRCm39) missense possibly damaging 0.82
IGL02132:Dcstamp APN 15 39,617,928 (GRCm39) missense probably damaging 0.97
IGL02139:Dcstamp APN 15 39,617,854 (GRCm39) missense probably damaging 1.00
IGL02607:Dcstamp APN 15 39,617,980 (GRCm39) missense possibly damaging 0.94
IGL03003:Dcstamp APN 15 39,617,906 (GRCm39) missense possibly damaging 0.64
IGL03061:Dcstamp APN 15 39,623,793 (GRCm39) missense possibly damaging 0.81
R1144:Dcstamp UTSW 15 39,623,764 (GRCm39) missense possibly damaging 0.94
R1186:Dcstamp UTSW 15 39,618,025 (GRCm39) splice site probably null
R1663:Dcstamp UTSW 15 39,618,340 (GRCm39) nonsense probably null
R2117:Dcstamp UTSW 15 39,618,571 (GRCm39) nonsense probably null
R2202:Dcstamp UTSW 15 39,617,708 (GRCm39) missense probably damaging 0.99
R4484:Dcstamp UTSW 15 39,617,620 (GRCm39) missense probably benign 0.00
R4642:Dcstamp UTSW 15 39,618,118 (GRCm39) missense probably benign 0.01
R5384:Dcstamp UTSW 15 39,622,715 (GRCm39) missense probably damaging 0.99
R5529:Dcstamp UTSW 15 39,617,932 (GRCm39) missense probably benign 0.04
R5558:Dcstamp UTSW 15 39,622,936 (GRCm39) missense probably damaging 1.00
R5562:Dcstamp UTSW 15 39,617,798 (GRCm39) missense possibly damaging 0.88
R6261:Dcstamp UTSW 15 39,618,131 (GRCm39) missense possibly damaging 0.65
R6299:Dcstamp UTSW 15 39,618,599 (GRCm39) missense probably damaging 1.00
R6377:Dcstamp UTSW 15 39,618,317 (GRCm39) missense probably benign 0.01
R6566:Dcstamp UTSW 15 39,617,732 (GRCm39) missense possibly damaging 0.54
R6596:Dcstamp UTSW 15 39,617,605 (GRCm39) missense possibly damaging 0.95
R6869:Dcstamp UTSW 15 39,617,854 (GRCm39) missense probably damaging 1.00
R7030:Dcstamp UTSW 15 39,622,929 (GRCm39) missense probably damaging 0.96
R7945:Dcstamp UTSW 15 39,623,797 (GRCm39) makesense probably null
R8178:Dcstamp UTSW 15 39,618,422 (GRCm39) missense probably damaging 1.00
R8821:Dcstamp UTSW 15 39,618,185 (GRCm39) missense probably benign 0.14
R9473:Dcstamp UTSW 15 39,617,972 (GRCm39) missense probably damaging 1.00
R9651:Dcstamp UTSW 15 39,623,792 (GRCm39) missense probably benign 0.30
R9652:Dcstamp UTSW 15 39,623,792 (GRCm39) missense probably benign 0.30
R9653:Dcstamp UTSW 15 39,623,792 (GRCm39) missense probably benign 0.30
Z1177:Dcstamp UTSW 15 39,622,992 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02