Incidental Mutation 'R1335:Cd209d'
| ID |
156844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd209d
|
| Ensembl Gene |
ENSMUSG00000031495 |
| Gene Name |
CD209d antigen |
| Synonyms |
SIGNR3, mSIGNR3, SIGN-R3 |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3921824-3928548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3922027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 185
(D185V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011445]
[ENSMUST00000209176]
|
| AlphaFold |
Q91ZW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011445
AA Change: D215V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: D215V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
74 |
N/A |
INTRINSIC |
|
CLECT
|
106 |
227 |
2.34e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209176
AA Change: D185V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8943 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAAGGAGCACGAACATGAGGGA -3'
(R):5'- ACAGTGGGCCAGATTAAAGTACTGTGAA -3'
Sequencing Primer
(F):5'- GGACATGAGTCAGGTTCATCC -3'
(R):5'- cttcctcctctccaatgctc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation