Incidental Mutation 'R6725:Fgb'
| ID |
529803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgb
|
| Ensembl Gene |
ENSMUSG00000033831 |
| Gene Name |
fibrinogen beta chain |
| Synonyms |
2510049G14Rik |
| MMRRC Submission |
044843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R6725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
82949553-82957170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82951098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 305
(Y305C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048246]
|
| AlphaFold |
Q8K0E8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048246
AA Change: Y305C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: Y305C
| 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 |
|
| Meta Mutation Damage Score |
0.3638 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,469,833 (GRCm39) |
Y623C |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,585,676 (GRCm39) |
E4596G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,641,329 (GRCm39) |
C3267S |
probably damaging |
Het |
| Ankrd40 |
T |
G |
11: 94,225,641 (GRCm39) |
V224G |
probably benign |
Het |
| Ap3s2 |
C |
T |
7: 79,570,390 (GRCm39) |
|
probably benign |
Het |
| Apip |
T |
A |
2: 102,922,870 (GRCm39) |
D229E |
possibly damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,791 (GRCm39) |
K329R |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,032,628 (GRCm39) |
D261G |
possibly damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,188,796 (GRCm39) |
Q490L |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 89,896,261 (GRCm39) |
W103R |
probably damaging |
Het |
| Ctsl |
T |
A |
13: 64,514,437 (GRCm39) |
R69* |
probably null |
Het |
| Dchs1 |
C |
T |
7: 105,408,000 (GRCm39) |
R1944H |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,801,424 (GRCm39) |
S27T |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,745,244 (GRCm39) |
D228G |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,037,523 (GRCm39) |
T346S |
probably benign |
Het |
| Gnrhr |
T |
C |
5: 86,333,172 (GRCm39) |
I233V |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,738,568 (GRCm39) |
Y1465C |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,815 (GRCm39) |
L10P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,489 (GRCm39) |
D94E |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 192,986,890 (GRCm39) |
Y59H |
probably benign |
Het |
| Msantd1 |
C |
T |
5: 35,078,765 (GRCm39) |
T100I |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,659 (GRCm39) |
|
probably benign |
Het |
| Mttp |
C |
A |
3: 137,812,999 (GRCm39) |
A559S |
probably damaging |
Het |
| Myh1 |
C |
G |
11: 67,092,719 (GRCm39) |
D4E |
probably damaging |
Het |
| Or2ah1 |
A |
G |
2: 85,654,134 (GRCm39) |
K273R |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,561 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,381 (GRCm39) |
Y65H |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,315 (GRCm39) |
Y457F |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pja2 |
A |
T |
17: 64,596,962 (GRCm39) |
M514K |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,792,488 (GRCm39) |
N284D |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,678,577 (GRCm39) |
M129K |
probably benign |
Het |
| Ppp1r42 |
T |
G |
1: 10,069,732 (GRCm39) |
E110A |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,514 (GRCm39) |
I132T |
possibly damaging |
Het |
| Sergef |
G |
A |
7: 46,282,091 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
C |
A |
4: 87,145,119 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
A |
T |
3: 108,734,916 (GRCm39) |
D24E |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,555,630 (GRCm39) |
H85Y |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,603 (GRCm39) |
E160V |
probably benign |
Het |
| Tmem171 |
A |
T |
13: 98,828,678 (GRCm39) |
C157* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,903,392 (GRCm39) |
Y1051H |
probably damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,408 (GRCm39) |
F280L |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,914,253 (GRCm39) |
Y748N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,436,782 (GRCm39) |
S2024G |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,301,539 (GRCm39) |
Y2148* |
probably null |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,799,906 (GRCm39) |
T328A |
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 |
|
R6727:Fgb
|
UTSW |
3 |
82,954,094 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- GATCCTTAGCTGCCACATTTAAAC -3'
(R):5'- TCACATCCCCTTGGAGAAGG -3'
Sequencing Primer
(F):5'- GCTGCCACATTTAAACACATTTAC -3'
(R):5'- GGCAATAAGTTCAGACTTTCAGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation