Incidental Mutation 'R1311:Cd209c'
ID |
157934 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd209c
|
Ensembl Gene |
ENSMUSG00000040165 |
Gene Name |
CD209c antigen |
Synonyms |
mSIGNR2, SIGNR2 |
MMRRC Submission |
039377-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R1311 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
3990222-4004746 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 3995908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044060]
[ENSMUST00000208622]
|
AlphaFold |
Q91ZW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044060
AA Change: M1L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039861 Gene: ENSMUSG00000040165 AA Change: M1L
Domain | Start | End | E-Value | Type |
CLECT
|
48 |
169 |
7.66e-30 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127592
|
SMART Domains |
Protein: ENSMUSP00000120433 Gene: ENSMUSG00000040165
Domain | Start | End | E-Value | Type |
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153915
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208622
AA Change: M1L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208902
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
probably damaging |
Het |
|
Other mutations in Cd209c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Cd209c
|
APN |
8 |
3,990,339 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01340:Cd209c
|
APN |
8 |
3,995,892 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02682:Cd209c
|
APN |
8 |
3,990,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R1859:Cd209c
|
UTSW |
8 |
3,994,953 (GRCm39) |
missense |
probably benign |
|
R4374:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
R4375:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
R4377:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
R4769:Cd209c
|
UTSW |
8 |
3,994,953 (GRCm39) |
missense |
probably benign |
|
R4786:Cd209c
|
UTSW |
8 |
3,995,698 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4841:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
R4842:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
R4869:Cd209c
|
UTSW |
8 |
3,994,077 (GRCm39) |
missense |
probably benign |
0.00 |
R5333:Cd209c
|
UTSW |
8 |
3,994,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Cd209c
|
UTSW |
8 |
3,995,699 (GRCm39) |
missense |
probably benign |
0.01 |
R6369:Cd209c
|
UTSW |
8 |
3,994,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R6497:Cd209c
|
UTSW |
8 |
3,994,122 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6591:Cd209c
|
UTSW |
8 |
3,995,680 (GRCm39) |
missense |
probably benign |
0.14 |
R6691:Cd209c
|
UTSW |
8 |
3,995,680 (GRCm39) |
missense |
probably benign |
0.14 |
R7181:Cd209c
|
UTSW |
8 |
3,995,712 (GRCm39) |
missense |
probably benign |
0.01 |
R8067:Cd209c
|
UTSW |
8 |
3,995,700 (GRCm39) |
missense |
probably benign |
0.12 |
R8701:Cd209c
|
UTSW |
8 |
3,995,892 (GRCm39) |
missense |
probably benign |
0.00 |
R9722:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2014-02-18 |