Incidental Mutation 'IGL03061:Dcstamp'
ID |
409452 |
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 # |
IGL03061
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39623793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 366
(D366E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
|
AlphaFold |
Q7TNJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022913
AA Change: D469E
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: D469E
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: D413E
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227792
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228556
AA Change: D366E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
A |
8: 46,961,374 (GRCm39) |
N106K |
probably damaging |
Het |
Ak8 |
T |
C |
2: 28,632,767 (GRCm39) |
|
probably benign |
Het |
BC016579 |
C |
T |
16: 45,449,849 (GRCm39) |
G190S |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,454 (GRCm39) |
V410A |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,780,388 (GRCm39) |
T658A |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,287,659 (GRCm39) |
|
probably null |
Het |
Car10 |
G |
T |
11: 93,381,351 (GRCm39) |
V105F |
probably damaging |
Het |
Car15 |
C |
T |
16: 17,653,249 (GRCm39) |
C306Y |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,316,250 (GRCm39) |
A530T |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,708,868 (GRCm39) |
|
probably null |
Het |
Creld1 |
A |
G |
6: 113,465,058 (GRCm39) |
E95G |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,866,856 (GRCm39) |
Y4095C |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,937,148 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,172,471 (GRCm39) |
|
probably benign |
Het |
Ifi27l2a |
T |
C |
12: 103,401,803 (GRCm39) |
V30A |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,124 (GRCm39) |
R164Q |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,088,779 (GRCm39) |
S1102P |
probably damaging |
Het |
Kif24 |
G |
T |
4: 41,394,323 (GRCm39) |
P984Q |
possibly damaging |
Het |
Krtap29-1 |
T |
A |
11: 99,869,455 (GRCm39) |
Q142L |
possibly damaging |
Het |
Lpar6 |
C |
T |
14: 73,476,510 (GRCm39) |
T157I |
probably benign |
Het |
Lrrc32 |
A |
T |
7: 98,148,629 (GRCm39) |
T470S |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,854,071 (GRCm39) |
H776Q |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,228,661 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
G |
2: 155,462,031 (GRCm39) |
N309S |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,713,615 (GRCm39) |
|
probably benign |
Het |
Npas4 |
C |
T |
19: 5,036,365 (GRCm39) |
V600M |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,478,698 (GRCm39) |
Y557* |
probably null |
Het |
Or2aj4 |
T |
C |
16: 19,385,463 (GRCm39) |
T57A |
possibly damaging |
Het |
Or52k2 |
A |
G |
7: 102,253,946 (GRCm39) |
I128M |
probably damaging |
Het |
Or8g53 |
T |
A |
9: 39,683,458 (GRCm39) |
T213S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,843 (GRCm39) |
I383V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,128,816 (GRCm39) |
D617Y |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,212,258 (GRCm39) |
K408* |
probably null |
Het |
Ptprs |
T |
C |
17: 56,725,830 (GRCm39) |
I1052V |
probably damaging |
Het |
Rpl14 |
T |
C |
9: 120,401,193 (GRCm39) |
V12A |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,125,493 (GRCm39) |
R428C |
probably damaging |
Het |
Sgsm2 |
G |
T |
11: 74,741,962 (GRCm39) |
N1009K |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,284,980 (GRCm39) |
I323F |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,344,928 (GRCm39) |
F676I |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tg |
A |
C |
15: 66,543,254 (GRCm39) |
D56A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,545,694 (GRCm39) |
A928E |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,247 (GRCm39) |
S677P |
possibly damaging |
Het |
Ttc41 |
C |
A |
10: 86,572,721 (GRCm39) |
H698N |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,851,394 (GRCm39) |
T1189A |
probably benign |
Het |
Vmn1r215 |
G |
T |
13: 23,260,088 (GRCm39) |
V43F |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,487,015 (GRCm39) |
N549K |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,898,566 (GRCm39) |
V455A |
probably benign |
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 |
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 |