Incidental Mutation 'R6596:Dcstamp'
ID |
526009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcstamp
|
Ensembl Gene |
ENSMUSG00000022303 |
Gene Name |
dendrocyte expressed seven transmembrane protein |
Synonyms |
4833414I07Rik, Tm7sf4, DC-STAMP |
MMRRC Submission |
044720-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.441)
|
Stock # |
R6596 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 39617605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 5
(T5P)
|
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: T5P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: T5P
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: T5P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227792
AA Change: T5P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228556
AA Change: T5P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228701
AA Change: T5P
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
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 |
9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
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 |
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 |
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'- CCATTTCTTGGTGGGAGTCC -3'
(R):5'- GAAAACACAGGTGATCATCCAG -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCACCTTGTAGAC -3'
(R):5'- CACAGGTGATCATCCAGACAGAAG -3'
|
Posted On |
2018-06-22 |