Incidental Mutation 'R4484:Dcstamp'
ID 331554
Institutional Source Beutler Lab
Gene Symbol Dcstamp
Ensembl Gene ENSMUSG00000022303
Gene Name dendrocyte expressed seven transmembrane protein
Synonyms 4833414I07Rik, Tm7sf4, DC-STAMP
MMRRC Submission 041740-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.441) question?
Stock # R4484 (G1)
Quality Score 225
Status Validated
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (46/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,301,730 (GRCm39) C1101R probably damaging Het
Atp8b5 T C 4: 43,357,016 (GRCm39) I588T probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cd164l2 T A 4: 132,950,986 (GRCm39) V147E probably damaging Het
Celsr3 G A 9: 108,723,262 (GRCm39) probably null Het
Cr2 T C 1: 194,836,482 (GRCm39) T894A probably damaging Het
Crtc3 T C 7: 80,239,696 (GRCm39) D552G probably damaging Het
Cspg4b A T 13: 113,455,733 (GRCm39) N593I probably damaging Het
Cyp2c50 A G 19: 40,079,083 (GRCm39) E142G probably damaging Het
Gm44501 T A 17: 40,887,507 (GRCm39) F8L unknown Het
Gpr179 T C 11: 97,226,537 (GRCm39) S1873G probably benign Het
Gprin2 C A 14: 33,916,754 (GRCm39) A339S probably benign Het
Gucy1b2 T A 14: 62,649,038 (GRCm39) I513F possibly damaging Het
Ighv5-6 T A 12: 113,589,208 (GRCm39) R91* probably null Het
Igtp G A 11: 58,097,824 (GRCm39) V332I possibly damaging Het
Itfg1 G A 8: 86,452,878 (GRCm39) P497S probably damaging Het
Junb T C 8: 85,704,517 (GRCm39) N181S possibly damaging Het
Lama3 T C 18: 12,614,145 (GRCm39) Y1305H probably benign Het
Lrrcc1 A T 3: 14,616,503 (GRCm39) N44I probably damaging Het
Med15 A T 16: 17,489,428 (GRCm39) probably benign Het
Mkks T C 2: 136,722,494 (GRCm39) E221G probably benign Het
Mtmr10 T C 7: 63,970,379 (GRCm39) V374A possibly damaging Het
Muc5b G T 7: 141,422,187 (GRCm39) C4441F possibly damaging Het
Nim1k G A 13: 120,173,710 (GRCm39) Q395* probably null Het
Nlrp6 A G 7: 140,501,694 (GRCm39) D87G probably damaging Het
Ntng1 C A 3: 110,051,124 (GRCm39) probably benign Het
Padi1 G T 4: 140,544,581 (GRCm39) probably benign Het
Rxrg T C 1: 167,452,596 (GRCm39) S133P probably benign Het
Snx19 T C 9: 30,339,192 (GRCm39) I110T probably benign Het
Strap T C 6: 137,726,334 (GRCm39) probably benign Het
Tasor2 T C 13: 3,631,831 (GRCm39) D890G probably benign Het
Tgtp2 A T 11: 48,950,179 (GRCm39) M131K probably damaging Het
Tppp2 T C 14: 52,156,868 (GRCm39) F82L probably damaging Het
Ttc39c A G 18: 12,863,126 (GRCm39) K397E possibly damaging Het
Txlnb T TTA 10: 17,714,745 (GRCm39) probably null Het
Usp36 T A 11: 118,176,621 (GRCm39) R66W probably damaging Het
Vmn1r30 A T 6: 58,412,118 (GRCm39) V238E probably damaging Het
Vmn1r6 A G 6: 56,980,174 (GRCm39) I279V probably benign Het
Vmn2r61 G A 7: 41,950,120 (GRCm39) D847N probably benign Het
Zfp622 G A 15: 25,987,137 (GRCm39) probably null Het
Zfp963 T C 8: 70,197,135 (GRCm39) I36V probably benign Het
Zfy2 A G Y: 2,107,351 (GRCm39) Y428H possibly 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
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
Predicted Primers PCR Primer
(F):5'- CATTTCTTGGTGGGAGTCCC -3'
(R):5'- CAGGTGATCATCCAGACAGAAG -3'

Sequencing Primer
(F):5'- TGGAACTCACCTTGTAGACCAGG -3'
(R):5'- TGATCATCCAGACAGAAGAGAGC -3'
Posted On 2015-07-21