Incidental Mutation 'R4387:Cd209b'
| ID |
326271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd209b
|
| Ensembl Gene |
ENSMUSG00000065987 |
| Gene Name |
CD209b antigen |
| Synonyms |
1810030I22Rik, mSIGNR1, SIGNR1 |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4387 (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 3975960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 67
(L67P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084086]
[ENSMUST00000111014]
[ENSMUST00000171635]
[ENSMUST00000188386]
|
| AlphaFold |
Q8CJ91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084086
AA Change: L67P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081104
Gene: ENSMUSG00000065987
AA Change: L67P
| 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 damaging
Transcript: ENSMUST00000111014
AA Change: L67P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106643
Gene: ENSMUSG00000065987
AA Change: L67P
| 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: 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 benign
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 |
|
| Meta Mutation Damage Score |
0.4352 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,782,715 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm39) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
C |
3: 20,031,366 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,540,479 (GRCm39) |
D364G |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,941,640 (GRCm39) |
V187D |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,345 (GRCm39) |
S434I |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,439,053 (GRCm39) |
L174Q |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,243,903 (GRCm39) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Gtpbp2 |
A |
G |
17: 46,477,284 (GRCm39) |
D383G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,843 (GRCm39) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,278 (GRCm39) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 84,098,335 (GRCm39) |
Q366L |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,386,778 (GRCm39) |
N256D |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,907,219 (GRCm39) |
T740A |
possibly damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,384,298 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,464 (GRCm39) |
D206V |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,523,001 (GRCm39) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,785 (GRCm39) |
L914M |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,322,847 (GRCm39) |
D382G |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,453,413 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,769,570 (GRCm39) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Shoc1 |
A |
T |
4: 59,060,915 (GRCm39) |
C953S |
possibly damaging |
Het |
| Slit3 |
T |
C |
11: 35,574,875 (GRCm39) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,211,378 (GRCm39) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,689,836 (GRCm39) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,175,628 (GRCm39) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,284,681 (GRCm39) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,152,568 (GRCm39) |
I55N |
probably damaging |
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 |
|
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'- CTGCCACTCAGAAGATGCTG -3'
(R):5'- CTTTGAGAAGATTGAGGCCAGG -3'
Sequencing Primer
(F):5'- TGAATCCAGGATCCACCCATG -3'
(R):5'- GGGAACAAAACCATGGCCCATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation