Incidental Mutation 'IGL03191:Dcstamp'
ID |
412651 |
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 # |
IGL03191
|
Quality Score |
|
Status
|
|
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
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 |
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 |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
Asxl2 |
A |
G |
12: 3,550,094 (GRCm39) |
D612G |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
Dpf1 |
T |
A |
7: 29,015,986 (GRCm39) |
|
probably benign |
Het |
Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
Lrrc32 |
A |
G |
7: 98,147,454 (GRCm39) |
H78R |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,336,392 (GRCm39) |
M199K |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
Pilrb1 |
A |
T |
5: 137,853,227 (GRCm39) |
L192Q |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
probably 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 |
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 |
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 |