Incidental Mutation 'IGL01963:Dcstamp'
ID |
182453 |
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 # |
IGL01963
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39623755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 401
(I401F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
|
AlphaFold |
Q7TNJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022913
AA Change: I457F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: I457F
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: I401F
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227792
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228556
AA Change: I354F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
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 |
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 |
2014-05-07 |