Incidental Mutation 'IGL02139:Dcstamp'
| ID |
281444 |
| 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 # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39617854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
[ENSMUST00000228701]
|
| AlphaFold |
Q7TNJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022913
AA Change: S88P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: S88P
| 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 damaging
Transcript: ENSMUST00000227368
AA Change: S88P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227792
AA Change: S88P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228556
AA Change: S88P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
| Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
| F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation