Incidental Mutation 'IGL00467:Dcstamp'
ID 4101
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 # IGL00467
Quality Score
Status
Chromosome 15
Chromosomal Location 39609326-39624334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39617812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 74 (C74S)
Ref Sequence ENSEMBL: ENSMUSP00000153957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
AlphaFold Q7TNJ0
Predicted Effect probably benign
Transcript: ENSMUST00000022913
AA Change: C74S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: C74S

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: C74S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000227792
AA Change: C74S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000228556
AA Change: C74S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,496 (GRCm39) probably benign Het
Acvrl1 C A 15: 101,041,221 (GRCm39) probably null Het
Ahnak T A 19: 8,984,587 (GRCm39) M1957K probably damaging Het
Brinp3 A G 1: 146,777,512 (GRCm39) D653G probably damaging Het
Esrrg A G 1: 187,943,107 (GRCm39) E360G probably damaging Het
Fam13a C T 6: 58,917,098 (GRCm39) probably benign Het
Glipr1l1 A G 10: 111,914,286 (GRCm39) T216A probably benign Het
Lama2 T A 10: 27,343,193 (GRCm39) probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mta3 T A 17: 84,063,113 (GRCm39) probably benign Het
Nfu1 A G 6: 86,997,755 (GRCm39) M213V possibly damaging Het
Pam A T 1: 97,852,152 (GRCm39) probably benign Het
Pcca A T 14: 122,820,041 (GRCm39) M62L probably benign Het
Phf6 A G X: 52,020,523 (GRCm39) Y25C probably damaging Het
Phlpp2 C T 8: 110,652,422 (GRCm39) H589Y probably benign Het
Ppp1r13b A G 12: 111,795,804 (GRCm39) I956T probably damaging Het
Prkcd G A 14: 30,324,379 (GRCm39) probably benign Het
Rapgef4 A T 2: 72,086,656 (GRCm39) N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 (GRCm39) E905* probably null Het
Slc26a6 T A 9: 108,733,088 (GRCm39) D22E probably benign Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Taf6l A T 19: 8,760,752 (GRCm39) N57K probably benign Het
Tas2r109 C A 6: 132,956,986 (GRCm39) V315L probably benign Het
Tasor A G 14: 27,170,121 (GRCm39) N350S probably benign Het
Tex9 T C 9: 72,385,117 (GRCm39) T240A probably benign Het
Trank1 G A 9: 111,193,734 (GRCm39) probably benign Het
Trim30c A T 7: 104,031,389 (GRCm39) Y475* probably null Het
Trim60 T C 8: 65,453,371 (GRCm39) T293A possibly damaging Het
Ttc21b T C 2: 66,018,708 (GRCm39) Y1233C probably damaging Het
Wdr75 A G 1: 45,841,235 (GRCm39) I106V probably benign Het
Zkscan16 T C 4: 58,957,709 (GRCm39) S664P possibly damaging Het
Other mutations in Dcstamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20