Incidental Mutation 'IGL01707:Cd209d'
| ID |
104632 |
| 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 # |
IGL01707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3921824-3928548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3928296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 30
(I30V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011445]
[ENSMUST00000209176]
|
| AlphaFold |
Q91ZW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011445
AA Change: I30V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: I30V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
74 |
N/A |
INTRINSIC |
|
CLECT
|
106 |
227 |
2.34e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209176
AA Change: I30V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,027,879 (GRCm39) |
R404L |
probably damaging |
Het |
| Acot6 |
C |
A |
12: 84,147,763 (GRCm39) |
S6R |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,301 (GRCm39) |
Q222L |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,450,976 (GRCm39) |
T725S |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,389 (GRCm39) |
K766N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,273 (GRCm39) |
S1387P |
probably damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,122 (GRCm39) |
|
probably null |
Het |
| Ces1d |
A |
T |
8: 93,916,178 (GRCm39) |
S150T |
possibly damaging |
Het |
| Cox4i2 |
T |
C |
2: 152,598,956 (GRCm39) |
Y38H |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,276,798 (GRCm39) |
Y867H |
possibly damaging |
Het |
| Dbh |
G |
A |
2: 27,055,556 (GRCm39) |
C10Y |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,106,178 (GRCm39) |
V332A |
probably damaging |
Het |
| Gnb3 |
G |
T |
6: 124,816,652 (GRCm39) |
A11E |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,814,935 (GRCm39) |
R2725G |
probably damaging |
Het |
| Kdm4c |
C |
T |
4: 74,255,164 (GRCm39) |
L573F |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,505,096 (GRCm39) |
Q3404L |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,791,909 (GRCm39) |
H231R |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,895,357 (GRCm39) |
D371V |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,623,440 (GRCm39) |
I705V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,623,753 (GRCm39) |
N150I |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,126 (GRCm39) |
I273T |
probably damaging |
Het |
| Or51aa5 |
A |
T |
7: 103,167,141 (GRCm39) |
I150N |
probably damaging |
Het |
| Phb2 |
A |
G |
6: 124,690,998 (GRCm39) |
Q52R |
probably benign |
Het |
| Plekhh1 |
T |
A |
12: 79,125,738 (GRCm39) |
V1258E |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,742,685 (GRCm39) |
N69K |
probably damaging |
Het |
| Rapsn |
T |
A |
2: 90,873,585 (GRCm39) |
M297K |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,808,588 (GRCm39) |
V195G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,517 (GRCm39) |
V68A |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,631 (GRCm39) |
R1301S |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,837,864 (GRCm39) |
Y1600C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,864 (GRCm39) |
I864T |
possibly damaging |
Het |
| Wif1 |
T |
A |
10: 120,919,890 (GRCm39) |
|
probably null |
Het |
| Zdhhc15 |
G |
A |
X: 103,609,422 (GRCm39) |
R208C |
probably damaging |
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 |
|
|
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 |
|
|
IGL03297:Cd209d
|
APN |
8 |
3,928,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2014-01-21 |
Incidental Mutation