Incidental Mutation 'R4484:Dcstamp'
ID |
331554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcstamp
|
Ensembl Gene |
ENSMUSG00000022303 |
Gene Name |
dendrocyte expressed seven transmembrane protein |
Synonyms |
4833414I07Rik, Tm7sf4, DC-STAMP |
MMRRC Submission |
041740-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.467)
|
Stock # |
R4484 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39617620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 10
(I10V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
[ENSMUST00000228701]
|
AlphaFold |
Q7TNJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022913
AA Change: I10V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022913 Gene: ENSMUSG00000022303 AA Change: I10V
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: I10V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227792
AA Change: I10V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228556
AA Change: I10V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228701
AA Change: I10V
|
Meta Mutation Damage Score |
0.1194 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (46/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTTCTTGGTGGGAGTCCC -3'
(R):5'- CAGGTGATCATCCAGACAGAAG -3'
Sequencing Primer
(F):5'- TGGAACTCACCTTGTAGACCAGG -3'
(R):5'- TGATCATCCAGACAGAAGAGAGC -3'
|
Posted On |
2015-07-21 |