Incidental Mutation 'IGL00467:Dcstamp'
ID |
4101 |
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 # |
IGL00467
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39617812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 74
(C74S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
[ENSMUST00000228701]
|
AlphaFold |
Q7TNJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022913
AA Change: C74S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: C74S
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: C74S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227792
AA Change: C74S
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228556
AA Change: C74S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
Het |
|
Other mutations in Dcstamp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |