Incidental Mutation 'IGL03003:Dcstamp'
ID 407415
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 # IGL03003
Quality Score
Status
Chromosome 15
Chromosomal Location 39609326-39624334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39617906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000153957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]
AlphaFold Q7TNJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022913
AA Change: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: V105A

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: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227792
AA Change: V105A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228556
AA Change: V105A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,671,509 (GRCm39) P577L probably damaging Het
Aff3 A T 1: 38,248,651 (GRCm39) S819T probably damaging Het
Aftph G T 11: 20,676,982 (GRCm39) S209* probably null Het
Astn1 T A 1: 158,439,965 (GRCm39) D844E probably benign Het
Cc2d2a A G 5: 43,828,608 (GRCm39) K29E probably benign Het
Ccdc93 T C 1: 121,390,846 (GRCm39) S273P possibly damaging Het
Cd200r3 C A 16: 44,764,139 (GRCm39) H2N probably benign Het
Cd200r3 G T 16: 44,764,138 (GRCm39) M1I probably null Het
Col7a1 G A 9: 108,804,024 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,642,640 (GRCm39) M240L probably benign Het
Dmbt1 C A 7: 130,684,409 (GRCm39) P635Q probably benign Het
Dsg1a T A 18: 20,469,876 (GRCm39) M634K probably benign Het
Farp2 T C 1: 93,495,140 (GRCm39) Y138H probably damaging Het
Fga T C 3: 82,940,037 (GRCm39) S564P probably damaging Het
Gbf1 T C 19: 46,244,094 (GRCm39) L142S probably damaging Het
Gm5422 T C 10: 31,126,840 (GRCm39) noncoding transcript Het
Helz2 A G 2: 180,882,046 (GRCm39) V249A probably damaging Het
Hmcn2 C A 2: 31,323,498 (GRCm39) T4204K probably damaging Het
Ift81 T C 5: 122,732,725 (GRCm39) I270V probably benign Het
Katnip A T 7: 125,451,132 (GRCm39) I1088F probably damaging Het
Kif6 C T 17: 50,060,899 (GRCm39) R411* probably null Het
Klhl35 T A 7: 99,119,550 (GRCm39) V345D probably damaging Het
Mcm3ap C A 10: 76,340,531 (GRCm39) D1531E probably benign Het
Muc5b C A 7: 141,417,351 (GRCm39) D3432E probably benign Het
Nipbl A T 15: 8,379,798 (GRCm39) V998D probably damaging Het
Nlrc3 C A 16: 3,782,726 (GRCm39) V228L probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Nt5c1b C T 12: 10,424,910 (GRCm39) A210V possibly damaging Het
Or13a18 A G 7: 140,190,283 (GRCm39) Y60C probably damaging Het
Or1l4b T C 2: 37,036,464 (GRCm39) V80A probably benign Het
Osbpl7 T C 11: 96,941,521 (GRCm39) Y15H probably benign Het
Pde8b T A 13: 95,178,465 (GRCm39) N552Y probably damaging Het
Pi4kb T A 3: 94,892,123 (GRCm39) S280T probably benign Het
Pkd1 T A 17: 24,812,577 (GRCm39) probably null Het
Polh A T 17: 46,505,292 (GRCm39) V108E possibly damaging Het
Prob1 A G 18: 35,786,428 (GRCm39) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,582 (GRCm39) N1557K probably damaging Het
Rev1 A C 1: 38,127,154 (GRCm39) F369V possibly damaging Het
Rgma A G 7: 73,067,188 (GRCm39) N148D probably damaging Het
Robo3 A G 9: 37,330,587 (GRCm39) L1003S probably damaging Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Sema6c T C 3: 95,076,925 (GRCm39) L337P probably damaging Het
Shc4 A T 2: 125,565,253 (GRCm39) Y15* probably null Het
Slc4a9 T C 18: 36,669,946 (GRCm39) S722P probably damaging Het
Smarcc1 A G 9: 110,035,168 (GRCm39) N864D probably damaging Het
Sspo T C 6: 48,432,021 (GRCm39) L745P probably damaging Het
Syce1l A G 8: 114,380,699 (GRCm39) D137G probably damaging Het
Tbc1d1 G T 5: 64,473,781 (GRCm39) W768L probably damaging Het
Tmbim7 A G 5: 3,711,887 (GRCm39) D7G probably benign Het
Tmem109 A C 19: 10,851,695 (GRCm39) S64A probably benign Het
Tnfrsf21 A G 17: 43,350,834 (GRCm39) R333G probably damaging Het
Ttn T G 2: 76,611,955 (GRCm39) S17316R probably damaging Het
Usp10 A G 8: 120,681,549 (GRCm39) T668A possibly damaging Het
Xirp2 T A 2: 67,345,906 (GRCm39) F2716I 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
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 2016-08-02