Incidental Mutation 'IGL03128:Fgl2'
| ID |
410223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21577671-21583384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21578291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 193
(M193L)
|
| 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: M193L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046131
Gene: ENSMUSG00000039899
AA Change: M193L
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,959 (GRCm39) |
I226N |
probably damaging |
Het |
| Cth |
C |
T |
3: 157,626,672 (GRCm39) |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,395,005 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,678,884 (GRCm39) |
H216Y |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,174,337 (GRCm39) |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
probably damaging |
Het |
|
| 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 |
|
A4554:Fgl2
|
UTSW |
5 |
21,577,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation