Incidental Mutation 'IGL02607:Dcstamp'
| ID |
300324 |
| 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)
|
| Stock # |
IGL02607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39617980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 130
(R130G)
|
| 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: R130G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: R130G
| Domain | Start | End | E-Value | Type |
|---|
|
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: R130G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227792
AA Change: R130G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228556
AA Change: R130G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,546,679 (GRCm39) |
W307* |
probably null |
Het |
| Cfap298 |
G |
A |
16: 90,726,835 (GRCm39) |
T98M |
probably damaging |
Het |
| Cit |
A |
G |
5: 115,997,268 (GRCm39) |
I84V |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,597,540 (GRCm39) |
D1132G |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,981,429 (GRCm39) |
S54T |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,769,609 (GRCm39) |
M439V |
probably damaging |
Het |
| Dnajc15 |
T |
A |
14: 78,077,656 (GRCm39) |
I110F |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,453,242 (GRCm39) |
F824L |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,940,036 (GRCm39) |
H617R |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,880,310 (GRCm39) |
Q388L |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,222,653 (GRCm39) |
L431Q |
probably damaging |
Het |
| Gng8 |
T |
C |
7: 16,628,859 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,620,746 (GRCm39) |
I1155F |
possibly damaging |
Het |
| Muc4 |
G |
T |
16: 32,596,193 (GRCm39) |
C3135F |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,522,709 (GRCm39) |
G685D |
probably damaging |
Het |
| Or2y1d |
T |
C |
11: 49,321,339 (GRCm39) |
F12S |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,490,634 (GRCm39) |
I771F |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,499,862 (GRCm39) |
|
probably null |
Het |
| Rrn3 |
G |
T |
16: 13,624,427 (GRCm39) |
V420L |
possibly damaging |
Het |
| Samm50 |
A |
T |
15: 84,092,039 (GRCm39) |
Y338F |
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,239,162 (GRCm39) |
T129I |
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,418,592 (GRCm39) |
I806V |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,437,573 (GRCm39) |
E699G |
unknown |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,290 (GRCm39) |
K150E |
possibly damaging |
Het |
|
| Other mutations in Dcstamp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation