Incidental Mutation 'R6299:Dcstamp'
ID 508996
Institutional Source Beutler Lab
Gene Symbol Dcstamp
Ensembl Gene ENSMUSG00000022303
Gene Name dendrocyte expressed seven transmembrane protein
Synonyms 4833414I07Rik, Tm7sf4, DC-STAMP
MMRRC Submission 044465-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.441) question?
Stock # R6299 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39609326-39624334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39618599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 336 (V336D)
Ref Sequence ENSEMBL: ENSMUSP00000154362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
AlphaFold Q7TNJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000022913
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: V336D

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 damaging
Transcript: ENSMUST00000227368
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227792
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228556
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228701
Meta Mutation Damage Score 0.6238 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bms1 G A 6: 118,395,476 (GRCm39) R24W probably damaging Het
C130050O18Rik A T 5: 139,400,126 (GRCm39) S60C probably damaging Het
Cabcoco1 A G 10: 68,272,720 (GRCm39) Y222H probably damaging Het
Cc2d1b T C 4: 108,485,335 (GRCm39) V559A probably benign Het
Cgrrf1 T A 14: 47,077,647 (GRCm39) N46K probably damaging Het
Clca3a1 T C 3: 144,464,275 (GRCm39) D114G probably damaging Het
Clcnkb T A 4: 141,138,034 (GRCm39) L279F probably damaging Het
Cr2 T C 1: 194,850,954 (GRCm39) T151A probably damaging Het
Creb3l3 C T 10: 80,924,447 (GRCm39) E236K probably damaging Het
Dop1a T G 9: 86,386,265 (GRCm39) F379V probably damaging Het
Esf1 T C 2: 139,965,554 (GRCm39) K714R possibly damaging Het
Exoc3l4 A T 12: 111,388,513 (GRCm39) M1L possibly damaging Het
Extl3 T C 14: 65,314,121 (GRCm39) R354G probably benign Het
Fastkd3 T C 13: 68,735,855 (GRCm39) L535P probably damaging Het
Gab2 A G 7: 96,731,066 (GRCm39) T12A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Golga4 T A 9: 118,386,438 (GRCm39) S1187T probably benign Het
Haus3 A G 5: 34,325,140 (GRCm39) V173A probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hspg2 A G 4: 137,272,016 (GRCm39) Y2566C probably damaging Het
Inpp5f A T 7: 128,237,884 (GRCm39) T34S possibly damaging Het
Iqck G A 7: 118,475,485 (GRCm39) G70S unknown Het
Jade1 T C 3: 41,568,160 (GRCm39) F743L probably damaging Het
Kif5a T C 10: 127,069,690 (GRCm39) K845R probably damaging Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Map2k1 T C 9: 64,121,772 (GRCm39) D67G possibly damaging Het
Mcm9 A C 10: 53,413,777 (GRCm39) C434W probably damaging Het
Muc4 T G 16: 32,570,853 (GRCm39) S638A possibly damaging Het
Nectin3 A G 16: 46,284,345 (GRCm39) V113A probably damaging Het
Nfya T C 17: 48,699,938 (GRCm39) probably benign Het
Nup155 G T 15: 8,157,922 (GRCm39) A460S possibly damaging Het
Nup210 T C 6: 91,051,270 (GRCm39) E371G possibly damaging Het
Olfm3 T C 3: 114,914,632 (GRCm39) S228P probably damaging Het
Or52n20 C A 7: 104,320,075 (GRCm39) D55E probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Plin1 A C 7: 79,371,224 (GRCm39) V500G probably benign Het
Ppfia1 A C 7: 144,064,049 (GRCm39) M513R probably benign Het
Ppp1cb T A 5: 32,640,798 (GRCm39) C27* probably null Het
Prss22 T A 17: 24,215,408 (GRCm39) I123F probably damaging Het
Rbm24 G T 13: 46,572,549 (GRCm39) V15L probably damaging Het
Reln T C 5: 22,491,942 (GRCm39) T97A possibly damaging Het
Sipa1l2 T C 8: 126,180,203 (GRCm39) T1065A possibly damaging Het
Sipa1l3 A C 7: 29,065,974 (GRCm39) probably null Het
Snrnp200 T A 2: 127,064,081 (GRCm39) Y689* probably null Het
Srcap T C 7: 127,129,626 (GRCm39) probably benign Het
Sv2a T C 3: 96,095,565 (GRCm39) probably null Het
Tcf12 A T 9: 71,766,211 (GRCm39) V474D probably damaging Het
Tpcn2 A T 7: 144,815,980 (GRCm39) S403T probably damaging Het
Trim65 C A 11: 116,017,377 (GRCm39) A362S probably benign Het
Trmt1 T A 8: 85,423,919 (GRCm39) C36* probably null Het
Trpm8 T A 1: 88,282,201 (GRCm39) L699Q probably damaging Het
Ube2m A C 7: 12,769,797 (GRCm39) I116R probably damaging Het
Ulk1 T C 5: 110,938,963 (GRCm39) K492E possibly damaging Het
Usp40 T A 1: 87,925,649 (GRCm39) K193N probably damaging Het
Vmn1r3 A G 4: 3,185,098 (GRCm39) S70P possibly damaging Het
Vmn2r2 T A 3: 64,024,074 (GRCm39) K836* probably null Het
Vmn2r75 T A 7: 85,814,482 (GRCm39) H337L probably benign Het
Wars1 G A 12: 108,827,309 (GRCm39) T437M probably benign Het
Zdhhc5 T C 2: 84,520,825 (GRCm39) T451A probably benign Het
Zfp788 T G 7: 41,297,965 (GRCm39) H180Q possibly damaging Het
Zkscan7 A G 9: 122,717,782 (GRCm39) E59G 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCTGGAAGTATGAGAATGTCTAC -3'
(R):5'- ACTCTGGGACCTAATTTAGCCC -3'

Sequencing Primer
(F):5'- TGTGTCCTCCCGCTGAATAAGAAG -3'
(R):5'- GCCCATAATATTGGAATCCTTCTGGG -3'
Posted On 2018-04-02