Incidental Mutation 'A4554:Fgl2'
ID |
96 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgl2
|
Ensembl Gene |
ENSMUSG00000039899 |
Gene Name |
fibrinogen-like protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
A4554
of strain
gemini
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21577671-21583384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21577776 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000035799]
[ENSMUST00000115245]
|
AlphaFold |
P12804 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
SMART Domains |
Protein: ENSMUSP00000030552 Gene: ENSMUSG00000064280
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035799
AA Change: E21G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000046131 Gene: ENSMUSG00000039899 AA Change: E21G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
71 |
158 |
N/A |
INTRINSIC |
FBG
|
201 |
428 |
1.6e-131 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
|
Validation Efficiency |
84% (92/109) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolongedsurvival of heart grafts. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
T |
C |
15: 63,996,560 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,069,100 (GRCm39) |
Y139F |
possibly damaging |
Homo |
Chd2 |
A |
C |
7: 73,130,716 (GRCm39) |
V782G |
probably benign |
Homo |
Chst4 |
G |
T |
8: 110,756,520 (GRCm39) |
Q448K |
probably benign |
Homo |
Dido1 |
T |
C |
2: 180,317,164 (GRCm39) |
K8E |
probably damaging |
Homo |
Evpl |
A |
G |
11: 116,111,660 (GRCm39) |
L2010P |
probably damaging |
Homo |
Greb1l |
A |
T |
18: 10,532,862 (GRCm39) |
M919L |
possibly damaging |
Homo |
Kel |
T |
A |
6: 41,674,353 (GRCm39) |
D359V |
possibly damaging |
Homo |
Lmtk2 |
A |
G |
5: 144,103,135 (GRCm39) |
D298G |
possibly damaging |
Homo |
Masp1 |
A |
T |
16: 23,273,690 (GRCm39) |
|
probably null |
Homo |
Mrgprb8 |
A |
T |
7: 48,039,156 (GRCm39) |
I276F |
probably damaging |
Homo |
Nde1 |
T |
C |
16: 14,006,274 (GRCm39) |
|
probably benign |
Homo |
Rbck1 |
G |
T |
2: 152,161,092 (GRCm39) |
N385K |
probably damaging |
Homo |
Senp6 |
G |
T |
9: 80,055,740 (GRCm39) |
|
probably benign |
Het |
Tm4sf4 |
T |
A |
3: 57,345,188 (GRCm39) |
|
probably null |
Homo |
Ubn2 |
A |
T |
6: 38,461,045 (GRCm39) |
H488L |
probably damaging |
Homo |
Vmn2r120 |
A |
G |
17: 57,832,715 (GRCm39) |
F155L |
probably benign |
Homo |
Vmn2r65 |
T |
A |
7: 84,595,791 (GRCm39) |
T298S |
probably damaging |
Homo |
|
Other mutations in Fgl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01622:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01623:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02056:Fgl2
|
APN |
5 |
21,580,543 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03128:Fgl2
|
APN |
5 |
21,578,291 (GRCm39) |
missense |
probably benign |
|
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Fgl2
|
UTSW |
5 |
21,580,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0316:Fgl2
|
UTSW |
5 |
21,580,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1336:Fgl2
|
UTSW |
5 |
21,578,181 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1703:Fgl2
|
UTSW |
5 |
21,577,730 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1893:Fgl2
|
UTSW |
5 |
21,580,669 (GRCm39) |
missense |
probably benign |
0.01 |
R2371:Fgl2
|
UTSW |
5 |
21,580,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Fgl2
|
UTSW |
5 |
21,580,918 (GRCm39) |
missense |
probably benign |
0.00 |
R5250:Fgl2
|
UTSW |
5 |
21,580,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5422:Fgl2
|
UTSW |
5 |
21,580,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6759:Fgl2
|
UTSW |
5 |
21,578,256 (GRCm39) |
missense |
probably benign |
0.00 |
R7808:Fgl2
|
UTSW |
5 |
21,578,229 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7812:Fgl2
|
UTSW |
5 |
21,577,896 (GRCm39) |
missense |
probably benign |
0.01 |
R7838:Fgl2
|
UTSW |
5 |
21,577,752 (GRCm39) |
missense |
probably benign |
0.01 |
R8177:Fgl2
|
UTSW |
5 |
21,578,307 (GRCm39) |
critical splice donor site |
probably null |
|
R8725:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
R8727:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
R9114:Fgl2
|
UTSW |
5 |
21,580,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:Fgl2
|
UTSW |
5 |
21,577,920 (GRCm39) |
missense |
probably damaging |
0.96 |
R9513:Fgl2
|
UTSW |
5 |
21,580,790 (GRCm39) |
nonsense |
probably null |
|
R9606:Fgl2
|
UTSW |
5 |
21,577,991 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0017:Fgl2
|
UTSW |
5 |
21,580,650 (GRCm39) |
missense |
probably damaging |
0.98 |
X0026:Fgl2
|
UTSW |
5 |
21,580,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to G transition at position 106 of the Fgl2 transcript in exon 1 of 2 total exons. The mutated nucleotide causes a glutamic acid to glycine substitution at amino acid 21 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Fgl2 gene encodes a 432 amino acid protein known as fibroleukin that contains one fibrinogen C-terminal domain at amino acids 197-429. Fibroleukin converts prothrombin to thrombin and forms a disulfide-linked homotetramer. The protein is constitutively expressed in cytotoxic T cells and is upregulated in macrophages during infection by mouse hepatitis virus strain 3 (MHV-3) (Uniprot P12804). Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolonged survival of heart grafts.
The E21G change is predicted to be probably benign by the PolyPhen program.
|
Posted On |
2010-03-16 |