Incidental Mutation 'R2371:Fgl2'
| ID |
247524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgl2
|
| Ensembl Gene |
ENSMUSG00000039899 |
| Gene Name |
fibrinogen-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
040351-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R2371 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21577671-21583384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21580816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 386
(Y386F)
|
| 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 damaging
Transcript: ENSMUST00000035799
AA Change: Y386F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046131
Gene: ENSMUSG00000039899
AA Change: Y386F
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,431,893 (GRCm39) |
E1105V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,796 (GRCm39) |
I209V |
possibly damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,380,603 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Dcst1 |
C |
G |
3: 89,265,949 (GRCm39) |
V179L |
possibly damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Gabrb2 |
A |
G |
11: 42,482,691 (GRCm39) |
Y183C |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,068,926 (GRCm39) |
L245P |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,482,910 (GRCm39) |
I132K |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,258,277 (GRCm39) |
D262E |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,828,778 (GRCm39) |
T376I |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,107,323 (GRCm39) |
L1592P |
probably damaging |
Het |
| Kif3b |
T |
C |
2: 153,164,743 (GRCm39) |
I587T |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,697 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Lvrn |
T |
G |
18: 47,011,230 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
C |
A |
2: 119,841,261 (GRCm39) |
Q83K |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,044 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,579 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,039,991 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,100,513 (GRCm39) |
F215L |
probably benign |
Het |
| Rtcb |
C |
T |
10: 85,779,697 (GRCm39) |
M324I |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,125 (GRCm39) |
I125V |
possibly damaging |
Het |
| Shroom3 |
A |
G |
5: 92,928,729 (GRCm39) |
K95E |
probably damaging |
Het |
| Wrnip1 |
C |
T |
13: 32,986,410 (GRCm39) |
P64S |
probably benign |
Het |
| Zbtb24 |
C |
T |
10: 41,327,264 (GRCm39) |
A50V |
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 |
|
IGL03128:Fgl2
|
APN |
5 |
21,578,291 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTCTCACACTTTATGCCTTG -3'
(R):5'- GTGCCCAGAGAGATGAACAC -3'
Sequencing Primer
(F):5'- TCGGTAACTACAATGGCACG -3'
(R):5'- GAGATGAACACTAGCAATTTATGGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation