Incidental Mutation 'IGL03297:Cd209d'
| ID |
416112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd209d
|
| Ensembl Gene |
ENSMUSG00000031495 |
| Gene Name |
CD209d antigen |
| Synonyms |
SIGNR3, mSIGNR3, SIGN-R3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3921824-3928548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3928476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011445]
[ENSMUST00000209176]
|
| AlphaFold |
Q91ZW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011445
AA Change: D3G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
74 |
N/A |
INTRINSIC |
|
CLECT
|
106 |
227 |
2.34e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209176
AA Change: D3G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite decreased T and B cell proliferation and extramedullary hematopoiesis in the spleen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
| Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
| Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
| Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
| Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
| Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
| Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
| Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
| Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
| Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
| Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
| Other mutations in Cd209d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Cd209d
|
APN |
8 |
3,927,974 (GRCm39) |
splice site |
probably null |
|
|
IGL01707:Cd209d
|
APN |
8 |
3,928,296 (GRCm39) |
missense |
probably benign |
|
|
IGL02864:Cd209d
|
APN |
8 |
3,927,122 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03066:Cd209d
|
APN |
8 |
3,928,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0324:Cd209d
|
UTSW |
8 |
3,928,258 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1335:Cd209d
|
UTSW |
8 |
3,922,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1349:Cd209d
|
UTSW |
8 |
3,928,515 (GRCm39) |
unclassified |
probably benign |
|
|
R1372:Cd209d
|
UTSW |
8 |
3,928,515 (GRCm39) |
unclassified |
probably benign |
|
|
R1507:Cd209d
|
UTSW |
8 |
3,928,453 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1673:Cd209d
|
UTSW |
8 |
3,927,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Cd209d
|
UTSW |
8 |
3,928,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2567:Cd209d
|
UTSW |
8 |
3,926,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Cd209d
|
UTSW |
8 |
3,927,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5349:Cd209d
|
UTSW |
8 |
3,928,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5768:Cd209d
|
UTSW |
8 |
3,921,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5949:Cd209d
|
UTSW |
8 |
3,927,949 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5953:Cd209d
|
UTSW |
8 |
3,927,979 (GRCm39) |
splice site |
probably null |
|
|
R6103:Cd209d
|
UTSW |
8 |
3,928,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Cd209d
|
UTSW |
8 |
3,927,965 (GRCm39) |
nonsense |
probably null |
|
|
R8714:Cd209d
|
UTSW |
8 |
3,923,772 (GRCm39) |
frame shift |
probably null |
|
|
R8715:Cd209d
|
UTSW |
8 |
3,923,772 (GRCm39) |
frame shift |
probably null |
|
|
R8716:Cd209d
|
UTSW |
8 |
3,923,772 (GRCm39) |
frame shift |
probably null |
|
|
R9672:Cd209d
|
UTSW |
8 |
3,922,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Cd209d
|
UTSW |
8 |
3,926,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Cd209d
|
UTSW |
8 |
3,927,961 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation