Incidental Mutation 'IGL01596:Cd209b'
| ID |
91952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd209b
|
| Ensembl Gene |
ENSMUSG00000065987 |
| Gene Name |
CD209b antigen |
| Synonyms |
1810030I22Rik, mSIGNR1, SIGNR1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3967655-3976841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3968744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 304
(D304V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084086]
[ENSMUST00000111014]
[ENSMUST00000171635]
[ENSMUST00000188386]
|
| AlphaFold |
Q8CJ91 |
| PDB Structure |
Crystallographic structure of the native mouse SIGN-R1 CRD domain [X-RAY DIFFRACTION]
Structure of SIGN-R1 in complex with Sulfodextran [X-RAY DIFFRACTION]
Crystallographic structure of the mouse SIGN-R1 CRD domain in complex with sialic acid [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084086
AA Change: D304V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081104
Gene: ENSMUSG00000065987
AA Change: D304V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
|
CLECT
|
195 |
316 |
3.63e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111014
|
| SMART Domains |
Protein: ENSMUSP00000106643
Gene: ENSMUSG00000065987
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
CLECT
|
165 |
307 |
2.43e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171635
AA Change: D274V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126070
Gene: ENSMUSG00000065987
AA Change: D274V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
CLECT
|
165 |
286 |
3.63e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188386
AA Change: D295V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140695
Gene: ENSMUSG00000065987
AA Change: D295V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
CLECT
|
165 |
307 |
2.43e-23 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutants are more susceptible to S. pneumoniae infection and fail to clear the bacteria from the circulation. Marginal zone and peritoneal macrophages are impaired in recognizing the bacteria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
T |
C |
3: 137,932,003 (GRCm39) |
S206P |
probably damaging |
Het |
| Arhgef10 |
G |
T |
8: 15,049,468 (GRCm39) |
E869* |
probably null |
Het |
| C87436 |
T |
A |
6: 86,423,201 (GRCm39) |
D258E |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,365 (GRCm39) |
K1813E |
probably damaging |
Het |
| Chmp2b |
T |
C |
16: 65,359,363 (GRCm39) |
D11G |
probably benign |
Het |
| Comp |
A |
G |
8: 70,831,285 (GRCm39) |
N384S |
probably damaging |
Het |
| Dbnl |
A |
G |
11: 5,748,279 (GRCm39) |
Y336C |
probably damaging |
Het |
| Faf2 |
G |
T |
13: 54,769,716 (GRCm39) |
Q21H |
probably null |
Het |
| Fam117b |
A |
T |
1: 59,992,130 (GRCm39) |
K260* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,214,809 (GRCm39) |
L379P |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,856,652 (GRCm39) |
N302D |
probably benign |
Het |
| Kcnh6 |
C |
T |
11: 105,917,572 (GRCm39) |
T702I |
probably benign |
Het |
| Kdelr2 |
A |
G |
5: 143,398,330 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,635,204 (GRCm39) |
Y300H |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,238,245 (GRCm39) |
E55G |
possibly damaging |
Het |
| Or4e1 |
C |
T |
14: 52,700,822 (GRCm39) |
V215M |
probably damaging |
Het |
| Or4k40 |
A |
G |
2: 111,251,237 (GRCm39) |
S20P |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,632 (GRCm39) |
W700R |
probably damaging |
Het |
| Pigq |
T |
G |
17: 26,146,660 (GRCm39) |
H615P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,806 (GRCm39) |
S1714T |
possibly damaging |
Het |
| Polr1b |
G |
T |
2: 128,952,046 (GRCm39) |
R358I |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,570,378 (GRCm39) |
V194F |
probably damaging |
Het |
| Trhr |
T |
C |
15: 44,092,708 (GRCm39) |
I315T |
probably damaging |
Het |
| Ttc38 |
G |
A |
15: 85,720,274 (GRCm39) |
V79M |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,189,845 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,272 (GRCm39) |
T339A |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 75,953,863 (GRCm39) |
F501S |
probably damaging |
Het |
|
| Other mutations in Cd209b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Cd209b
|
APN |
8 |
3,969,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL03211:Cd209b
|
APN |
8 |
3,968,830 (GRCm39) |
splice site |
probably benign |
|
|
R1434:Cd209b
|
UTSW |
8 |
3,973,367 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4127:Cd209b
|
UTSW |
8 |
3,968,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Cd209b
|
UTSW |
8 |
3,975,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4388:Cd209b
|
UTSW |
8 |
3,975,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4389:Cd209b
|
UTSW |
8 |
3,975,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4708:Cd209b
|
UTSW |
8 |
3,974,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4710:Cd209b
|
UTSW |
8 |
3,974,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Cd209b
|
UTSW |
8 |
3,976,640 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5454:Cd209b
|
UTSW |
8 |
3,975,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5814:Cd209b
|
UTSW |
8 |
3,973,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5853:Cd209b
|
UTSW |
8 |
3,976,549 (GRCm39) |
splice site |
probably null |
|
|
R5867:Cd209b
|
UTSW |
8 |
3,974,246 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5996:Cd209b
|
UTSW |
8 |
3,968,688 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7020:Cd209b
|
UTSW |
8 |
3,968,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7187:Cd209b
|
UTSW |
8 |
3,976,638 (GRCm39) |
missense |
probably benign |
|
|
R7695:Cd209b
|
UTSW |
8 |
3,976,005 (GRCm39) |
missense |
probably benign |
|
|
R7712:Cd209b
|
UTSW |
8 |
3,973,299 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7975:Cd209b
|
UTSW |
8 |
3,975,948 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8309:Cd209b
|
UTSW |
8 |
3,976,559 (GRCm39) |
nonsense |
probably null |
|
|
R8317:Cd209b
|
UTSW |
8 |
3,972,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9159:Cd209b
|
UTSW |
8 |
3,974,245 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9214:Cd209b
|
UTSW |
8 |
3,968,771 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2013-12-09 |
Incidental Mutation