Incidental Mutation 'R9473:Dcstamp'
| ID |
715593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcstamp
|
| Ensembl Gene |
ENSMUSG00000022303 |
| Gene Name |
dendrocyte expressed seven transmembrane protein |
| Synonyms |
4833414I07Rik, Tm7sf4, DC-STAMP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.441)
|
| Stock # |
R9473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39609326-39624334 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39617972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 127
(C127Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022913]
[ENSMUST00000227368]
[ENSMUST00000227792]
[ENSMUST00000228556]
[ENSMUST00000228701]
|
| AlphaFold |
Q7TNJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022913
AA Change: C127Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: C127Y
| 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: C127Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227792
AA Change: C127Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228556
AA Change: C127Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228701
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,980,912 (GRCm39) |
P107L |
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,617,609 (GRCm39) |
N1142S |
probably benign |
Het |
| Accsl |
T |
C |
2: 93,686,092 (GRCm39) |
H575R |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,610,943 (GRCm39) |
L964Q |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,632 (GRCm39) |
L688P |
probably damaging |
Het |
| Anapc10 |
A |
G |
8: 80,501,673 (GRCm39) |
N147S |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,410,272 (GRCm39) |
E1059K |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,983 (GRCm39) |
R1706H |
probably damaging |
Het |
| Bmf |
A |
C |
2: 118,363,104 (GRCm39) |
F251V |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,326,535 (GRCm39) |
E576* |
probably null |
Het |
| Capns2 |
T |
C |
8: 93,628,854 (GRCm39) |
*248R |
probably null |
Het |
| Ceacam13 |
G |
T |
7: 17,747,281 (GRCm39) |
V245L |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,407,651 (GRCm39) |
D2G |
probably benign |
Het |
| Dnmt3l |
C |
T |
10: 77,886,022 (GRCm39) |
Q36* |
probably null |
Het |
| Dpys |
A |
G |
15: 39,687,583 (GRCm39) |
I405T |
possibly damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,134,326 (GRCm39) |
I309T |
probably benign |
Het |
| Eif2b1 |
G |
A |
5: 124,712,677 (GRCm39) |
Q156* |
probably null |
Het |
| Eif3l |
T |
A |
15: 78,970,704 (GRCm39) |
M326K |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,790,243 (GRCm39) |
N267D |
possibly damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,745,719 (GRCm39) |
T372I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,757,575 (GRCm39) |
N249S |
probably benign |
Het |
| Gm17324 |
G |
T |
9: 78,355,839 (GRCm39) |
R47S |
unknown |
Het |
| Gm45871 |
T |
G |
18: 90,609,093 (GRCm39) |
D110E |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,433,534 (GRCm39) |
T298S |
probably benign |
Het |
| Ighv7-4 |
T |
C |
12: 114,186,722 (GRCm39) |
I17V |
probably benign |
Het |
| Krt7 |
C |
T |
15: 101,318,409 (GRCm39) |
R299W |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,297,990 (GRCm39) |
|
probably benign |
Het |
| Mturn |
G |
A |
6: 54,666,009 (GRCm39) |
E61K |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,075,581 (GRCm39) |
D149G |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,052,143 (GRCm39) |
N299I |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,335,590 (GRCm39) |
I351N |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Pramel11 |
T |
G |
4: 143,620,815 (GRCm39) |
T468P |
probably benign |
Het |
| Rdh19 |
A |
G |
10: 127,696,177 (GRCm39) |
T310A |
probably benign |
Het |
| Rflnb |
T |
A |
11: 75,913,064 (GRCm39) |
Y108F |
probably damaging |
Het |
| Rfx1 |
A |
T |
8: 84,819,903 (GRCm39) |
I713F |
probably damaging |
Het |
| Saxo5 |
G |
A |
8: 3,529,232 (GRCm39) |
C239Y |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,143,731 (GRCm39) |
|
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,729,939 (GRCm39) |
*414W |
probably null |
Het |
| Slc18a3 |
T |
C |
14: 32,185,913 (GRCm39) |
I157V |
probably benign |
Het |
| Steap1 |
T |
C |
5: 5,790,378 (GRCm39) |
Y190C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,064,243 (GRCm39) |
S3247P |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,198,258 (GRCm39) |
I3778V |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,104 (GRCm39) |
D308G |
probably benign |
Het |
| Tpm2 |
A |
T |
4: 43,514,813 (GRCm39) |
L274* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,547,338 (GRCm39) |
V32236A |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,617 (GRCm39) |
V1472A |
|
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,565 (GRCm39) |
C17Y |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,679,644 (GRCm39) |
N506D |
probably 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 |
|
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 |
|
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'- TTCCTATGCTGTTCCAAGCG -3'
(R):5'- TCAACAGCTCTGTCGTGACC -3'
Sequencing Primer
(F):5'- TTCCAAGCGCGCACGATG -3'
(R):5'- AGTGTCATTCATATGAGCCTCCAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation