Incidental Mutation 'IGL03158:Fgl1'
| ID |
411336 |
| 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: 0.093)
|
| Stock # |
IGL03158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41644471-41668193 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41662810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 58
(H58Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034003]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034003
AA Change: H58Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034003
Gene: ENSMUSG00000031594
AA Change: H58Q
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
T |
C |
5: 122,955,960 (GRCm39) |
T157A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,883,320 (GRCm39) |
E11G |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,683 (GRCm39) |
T90A |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,793,773 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,179,303 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,826,337 (GRCm39) |
|
probably null |
Het |
| Map1s |
T |
C |
8: 71,367,378 (GRCm39) |
L761P |
probably damaging |
Het |
| Mup21 |
T |
C |
4: 62,068,525 (GRCm39) |
E47G |
probably benign |
Het |
| Mup6 |
T |
A |
4: 60,005,480 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,502,135 (GRCm39) |
T192I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,587 (GRCm39) |
T108S |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,116,500 (GRCm39) |
D1550V |
possibly damaging |
Het |
| Prex2 |
C |
A |
1: 11,336,291 (GRCm39) |
S1496R |
possibly damaging |
Het |
| Prpf4 |
A |
G |
4: 62,334,256 (GRCm39) |
H237R |
probably benign |
Het |
| Pygl |
G |
T |
12: 70,242,449 (GRCm39) |
T578K |
probably damaging |
Het |
| Rem2 |
A |
G |
14: 54,716,415 (GRCm39) |
D176G |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,680,833 (GRCm39) |
V2143A |
probably benign |
Het |
| Wdr4 |
T |
C |
17: 31,718,102 (GRCm39) |
Q324R |
probably benign |
Het |
|
| Other mutations in Fgl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01619:Fgl1
|
APN |
8 |
41,650,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation