Incidental Mutation 'R6566:Dcstamp'
ID |
522705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcstamp
|
Ensembl Gene |
ENSMUSG00000022303 |
Gene Name |
dendrocyte expressed seven transmembrane protein |
Synonyms |
4833414I07Rik, Tm7sf4, DC-STAMP |
MMRRC Submission |
044690-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.441)
|
Stock # |
R6566 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39617732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 47
(F47S)
|
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: F47S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: F47S
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: F47S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227792
AA Change: F47S
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228556
AA Change: F47S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228701
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (36/36) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
Bcat1 |
A |
G |
6: 144,961,210 (GRCm39) |
M131T |
probably damaging |
Het |
Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,912,966 (GRCm39) |
V614A |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,247,067 (GRCm39) |
S524P |
probably damaging |
Het |
Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,549,520 (GRCm39) |
R394G |
possibly damaging |
Het |
Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
Zfp944 |
T |
G |
17: 22,558,726 (GRCm39) |
K174Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTTCTTGGTGGGAGTCCC -3'
(R):5'- GCTGTCTAGGAGACCTCTGAAG -3'
Sequencing Primer
(F):5'- TGGAACTCACCTTGTAGACCAGG -3'
(R):5'- TTTTCCACATGTCCAAAGATCAC -3'
|
Posted On |
2018-06-06 |