Incidental Mutation 'IGL03061:Dcstamp'
ID 409452
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 # IGL03061
Quality Score
Status
Chromosome 15
Chromosomal Location 39609326-39624334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39623793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 366 (D366E)
Ref Sequence ENSEMBL: ENSMUSP00000154362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556]
AlphaFold Q7TNJ0
Predicted Effect probably benign
Transcript: ENSMUST00000022913
AA Change: D469E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: D469E

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: D413E

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000227792
Predicted Effect possibly damaging
Transcript: ENSMUST00000228556
AA Change: D366E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign 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
IGL03191:Dcstamp APN 15 39,617,620 (GRCm39) missense probably benign 0.00
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