Incidental Mutation 'R5853:Cd209b'
ID |
454765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd209b
|
Ensembl Gene |
ENSMUSG00000065987 |
Gene Name |
CD209b antigen |
Synonyms |
1810030I22Rik, mSIGNR1, SIGNR1 |
MMRRC Submission |
044068-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5853 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
3967655-3976841 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 3976549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084086]
[ENSMUST00000084086]
[ENSMUST00000111014]
[ENSMUST00000111014]
[ENSMUST00000171635]
[ENSMUST00000171635]
[ENSMUST00000171635]
[ENSMUST00000171635]
[ENSMUST00000188386]
[ENSMUST00000188386]
[ENSMUST00000188386]
[ENSMUST00000188386]
|
AlphaFold |
Q8CJ91 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084086
|
SMART Domains |
Protein: ENSMUSP00000081104 Gene: ENSMUSG00000065987
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 null
Transcript: ENSMUST00000084086
|
SMART Domains |
Protein: ENSMUSP00000081104 Gene: ENSMUSG00000065987
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 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 null
Transcript: ENSMUST00000171635
|
SMART Domains |
Protein: ENSMUSP00000126070 Gene: ENSMUSG00000065987
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
CLECT
|
165 |
286 |
3.63e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171635
|
SMART Domains |
Protein: ENSMUSP00000126070 Gene: ENSMUSG00000065987
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
CLECT
|
165 |
286 |
3.63e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171635
|
SMART Domains |
Protein: ENSMUSP00000126070 Gene: ENSMUSG00000065987
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
CLECT
|
165 |
286 |
3.63e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171635
|
SMART Domains |
Protein: ENSMUSP00000126070 Gene: ENSMUSG00000065987
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
CLECT
|
165 |
286 |
3.63e-31 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188386
|
SMART Domains |
Protein: ENSMUSP00000140695 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 null
Transcript: ENSMUST00000188386
|
SMART Domains |
Protein: ENSMUSP00000140695 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 null
Transcript: ENSMUST00000188386
|
SMART Domains |
Protein: ENSMUSP00000140695 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 null
Transcript: ENSMUST00000188386
|
SMART Domains |
Protein: ENSMUSP00000140695 Gene: ENSMUSG00000065987
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
CLECT
|
165 |
307 |
2.43e-23 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
A |
7: 119,939,806 (GRCm39) |
V303I |
probably benign |
Het |
Abca4 |
G |
T |
3: 121,897,180 (GRCm39) |
V620L |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,329,995 (GRCm39) |
V320E |
possibly damaging |
Het |
Aoah |
G |
T |
13: 21,184,072 (GRCm39) |
A379S |
probably benign |
Het |
Apol7e |
A |
G |
15: 77,598,667 (GRCm39) |
D44G |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,658,813 (GRCm39) |
|
probably null |
Het |
Chek1 |
G |
A |
9: 36,624,983 (GRCm39) |
S366L |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,797,190 (GRCm39) |
L712P |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,750,161 (GRCm39) |
|
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,092,977 (GRCm39) |
D178G |
probably benign |
Het |
Cpox |
T |
C |
16: 58,495,780 (GRCm39) |
Y366H |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,538,056 (GRCm39) |
F3632S |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,076,388 (GRCm39) |
D645E |
probably damaging |
Het |
Emilin1 |
G |
A |
5: 31,075,966 (GRCm39) |
E736K |
probably damaging |
Het |
Gcnt4 |
G |
A |
13: 97,083,160 (GRCm39) |
R152Q |
probably benign |
Het |
Il6st |
T |
C |
13: 112,618,071 (GRCm39) |
S162P |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,491,601 (GRCm39) |
K362E |
probably benign |
Het |
Kif22 |
G |
T |
7: 126,632,539 (GRCm39) |
P257Q |
possibly damaging |
Het |
Lhx2 |
T |
C |
2: 38,259,053 (GRCm39) |
V378A |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,630 (GRCm39) |
V202A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,553,738 (GRCm39) |
N366I |
unknown |
Het |
Mbip |
T |
C |
12: 56,382,662 (GRCm39) |
D268G |
probably damaging |
Het |
Mc5r |
A |
G |
18: 68,472,564 (GRCm39) |
M308V |
probably benign |
Het |
Mndal |
C |
A |
1: 173,690,070 (GRCm39) |
G420V |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,899,822 (GRCm39) |
N1442K |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,058,811 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
A |
G |
13: 40,360,193 (GRCm39) |
S279P |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,326 (GRCm39) |
M116K |
possibly damaging |
Het |
Or6b2b |
T |
C |
1: 92,419,439 (GRCm39) |
I13V |
probably benign |
Het |
Pabpc1l |
A |
T |
2: 163,891,438 (GRCm39) |
H552L |
probably benign |
Het |
Pigr |
T |
A |
1: 130,774,341 (GRCm39) |
C440* |
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Prss30 |
C |
T |
17: 24,191,820 (GRCm39) |
V271I |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,741,234 (GRCm39) |
|
probably null |
Het |
Qrich1 |
T |
A |
9: 108,410,807 (GRCm39) |
|
probably benign |
Het |
Rem1 |
C |
G |
2: 152,470,200 (GRCm39) |
A62G |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,354 (GRCm39) |
N58S |
probably damaging |
Het |
Rp9 |
G |
A |
9: 22,360,065 (GRCm39) |
|
probably benign |
Het |
Rrp1b |
G |
A |
17: 32,275,658 (GRCm39) |
V402I |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,349 (GRCm39) |
Y108N |
probably benign |
Het |
Slc3a1 |
A |
G |
17: 85,340,008 (GRCm39) |
M189V |
probably damaging |
Het |
Slc44a1 |
A |
C |
4: 53,528,682 (GRCm39) |
K144T |
probably benign |
Het |
Tbc1d13 |
T |
A |
2: 30,027,393 (GRCm39) |
H100Q |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
Tmem70 |
T |
C |
1: 16,735,556 (GRCm39) |
W9R |
possibly damaging |
Het |
Tspan1 |
A |
G |
4: 116,020,502 (GRCm39) |
|
probably null |
Het |
Unc13a |
T |
C |
8: 72,107,773 (GRCm39) |
|
probably null |
Het |
Uroc1 |
T |
C |
6: 90,323,738 (GRCm39) |
F395S |
probably damaging |
Het |
Uvrag |
A |
C |
7: 98,537,284 (GRCm39) |
L637R |
possibly damaging |
Het |
Vmn1r213 |
T |
G |
13: 23,195,684 (GRCm39) |
L3W |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,238,224 (GRCm39) |
T528I |
probably benign |
Het |
Zfp526 |
C |
T |
7: 24,924,601 (GRCm39) |
Q287* |
probably null |
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 |
|
IGL01596:Cd209b
|
APN |
8 |
3,968,744 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAACCTGTGATGTCTCCCCTAG -3'
(R):5'- AGAAGCCAAGATGCAGCCTC -3'
Sequencing Primer
(F):5'- GTGATGTCTCCCCTAGCCATC -3'
(R):5'- AAGATGCAGCCTCTTAGCTC -3'
|
Posted On |
2017-02-10 |