Incidental Mutation 'IGL01619:Fgl1'
ID |
92507 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fgl1
|
Ensembl Gene |
ENSMUSG00000031594 |
Gene Name |
fibrinogen-like protein 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01619
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
41644471-41668193 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41650008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 258
(W258R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034003]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034003
AA Change: W258R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034003 Gene: ENSMUSG00000031594 AA Change: W258R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
FBG
|
80 |
307 |
1.4e-131 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134510
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, decreased circulating cholesterol and free fatty acid, hyperglycemia, impaired glucose tolerance, increased gluconeogenesis, increased white adipose tissue and decreased respiratory quotient. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
probably damaging |
Het |
|
Other mutations in Fgl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03158:Fgl1
|
APN |
8 |
41,662,810 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02796:Fgl1
|
UTSW |
8 |
41,650,095 (GRCm39) |
missense |
probably benign |
0.01 |
R0639:Fgl1
|
UTSW |
8 |
41,644,661 (GRCm39) |
missense |
probably benign |
0.27 |
R0673:Fgl1
|
UTSW |
8 |
41,644,661 (GRCm39) |
missense |
probably benign |
0.27 |
R1413:Fgl1
|
UTSW |
8 |
41,644,638 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1458:Fgl1
|
UTSW |
8 |
41,663,496 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1603:Fgl1
|
UTSW |
8 |
41,650,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Fgl1
|
UTSW |
8 |
41,650,387 (GRCm39) |
missense |
probably benign |
0.02 |
R5686:Fgl1
|
UTSW |
8 |
41,653,594 (GRCm39) |
nonsense |
probably null |
|
R5796:Fgl1
|
UTSW |
8 |
41,652,796 (GRCm39) |
splice site |
probably benign |
|
R6052:Fgl1
|
UTSW |
8 |
41,653,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Fgl1
|
UTSW |
8 |
41,663,483 (GRCm39) |
missense |
probably benign |
0.04 |
R7492:Fgl1
|
UTSW |
8 |
41,644,624 (GRCm39) |
nonsense |
probably null |
|
R8114:Fgl1
|
UTSW |
8 |
41,644,620 (GRCm39) |
missense |
probably damaging |
0.99 |
R8140:Fgl1
|
UTSW |
8 |
41,653,646 (GRCm39) |
splice site |
probably null |
|
R8809:Fgl1
|
UTSW |
8 |
41,650,368 (GRCm39) |
nonsense |
probably null |
|
R8824:Fgl1
|
UTSW |
8 |
41,652,748 (GRCm39) |
missense |
probably benign |
0.00 |
R8930:Fgl1
|
UTSW |
8 |
41,662,868 (GRCm39) |
missense |
probably benign |
0.44 |
R8932:Fgl1
|
UTSW |
8 |
41,662,868 (GRCm39) |
missense |
probably benign |
0.44 |
R8983:Fgl1
|
UTSW |
8 |
41,653,496 (GRCm39) |
missense |
probably benign |
0.38 |
|
Posted On |
2013-12-09 |