Incidental Mutation 'R4127:Cd209b'
| ID |
315441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd209b
|
| Ensembl Gene |
ENSMUSG00000065987 |
| Gene Name |
CD209b antigen |
| Synonyms |
1810030I22Rik, mSIGNR1, SIGNR1 |
| MMRRC Submission |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4127 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
3967655-3976841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3968714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084086]
[ENSMUST00000111014]
[ENSMUST00000171635]
[ENSMUST00000188386]
|
| AlphaFold |
Q8CJ91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084086
AA Change: I314T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081104
Gene: ENSMUSG00000065987
AA Change: I314T
| 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: I284T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126070
Gene: ENSMUSG00000065987
AA Change: I284T
| 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: I305T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140695
Gene: ENSMUSG00000065987
AA Change: I305T
| 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: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAATAGTGAGTCCCTTTGTG -3'
(R):5'- ATGGTTCACAGCATGCCAC -3'
Sequencing Primer
(F):5'- ATTTCCTAGGCAGGGGTCCTAAAC -3'
(R):5'- CACTGGAGCAGACTAACGTTTTTCTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation