Incidental Mutation 'R6727:Fgb'
| ID |
529895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgb
|
| Ensembl Gene |
ENSMUSG00000033831 |
| Gene Name |
fibrinogen beta chain |
| Synonyms |
2510049G14Rik |
| MMRRC Submission |
044845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R6727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
82949553-82957170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82954094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 48
(S48N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048246]
|
| AlphaFold |
Q8K0E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048246
AA Change: S48N
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: S48N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
Fib_alpha
|
80 |
225 |
1.28e-64 |
SMART |
|
FBG
|
226 |
477 |
1.6e-140 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,781 (GRCm39) |
K122* |
probably null |
Het |
| Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
| Dync1li2 |
G |
T |
8: 105,167,167 (GRCm39) |
H79Q |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
| Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
| Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,118 (GRCm39) |
N288K |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,087 (GRCm39) |
V103E |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
| Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
| Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
| Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
| Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,971,045 (GRCm39) |
V184D |
probably damaging |
Het |
| Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
probably benign |
Het |
|
| Other mutations in Fgb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Fgb
|
APN |
3 |
82,950,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02129:Fgb
|
APN |
3 |
82,950,725 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02148:Fgb
|
APN |
3 |
82,950,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02286:Fgb
|
APN |
3 |
82,950,633 (GRCm39) |
missense |
probably benign |
|
|
IGL02601:Fgb
|
APN |
3 |
82,952,367 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02721:Fgb
|
APN |
3 |
82,950,674 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
G1patch:Fgb
|
UTSW |
3 |
82,951,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Fgb
|
UTSW |
3 |
82,950,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1424:Fgb
|
UTSW |
3 |
82,954,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1913:Fgb
|
UTSW |
3 |
82,952,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1990:Fgb
|
UTSW |
3 |
82,951,560 (GRCm39) |
nonsense |
probably null |
|
|
R2063:Fgb
|
UTSW |
3 |
82,956,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2065:Fgb
|
UTSW |
3 |
82,956,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2066:Fgb
|
UTSW |
3 |
82,956,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2067:Fgb
|
UTSW |
3 |
82,956,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2251:Fgb
|
UTSW |
3 |
82,950,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Fgb
|
UTSW |
3 |
82,950,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5045:Fgb
|
UTSW |
3 |
82,950,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Fgb
|
UTSW |
3 |
82,956,984 (GRCm39) |
splice site |
probably null |
|
|
R5766:Fgb
|
UTSW |
3 |
82,953,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Fgb
|
UTSW |
3 |
82,951,170 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6315:Fgb
|
UTSW |
3 |
82,952,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6469:Fgb
|
UTSW |
3 |
82,953,449 (GRCm39) |
nonsense |
probably null |
|
|
R6664:Fgb
|
UTSW |
3 |
82,954,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Fgb
|
UTSW |
3 |
82,951,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Fgb
|
UTSW |
3 |
82,952,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7016:Fgb
|
UTSW |
3 |
82,953,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7132:Fgb
|
UTSW |
3 |
82,954,053 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Fgb
|
UTSW |
3 |
82,953,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7430:Fgb
|
UTSW |
3 |
82,954,014 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7681:Fgb
|
UTSW |
3 |
82,957,139 (GRCm39) |
start gained |
probably benign |
|
|
R7811:Fgb
|
UTSW |
3 |
82,957,004 (GRCm39) |
missense |
probably benign |
|
|
R8171:Fgb
|
UTSW |
3 |
82,949,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8787:Fgb
|
UTSW |
3 |
82,953,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Fgb
|
UTSW |
3 |
82,957,122 (GRCm39) |
start gained |
probably benign |
|
|
R9562:Fgb
|
UTSW |
3 |
82,952,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Fgb
|
UTSW |
3 |
82,952,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGCACTGGAGACCCAC -3'
(R):5'- CTCCATCTGCTTGAAGAGACAC -3'
Sequencing Primer
(F):5'- GCACTGGAGACCCACCCTAC -3'
(R):5'- CAGTGGAGAGCCCTGTAGCATAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation