Incidental Mutation 'R2443:Fga'
| ID |
249858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fga
|
| Ensembl Gene |
ENSMUSG00000028001 |
| Gene Name |
fibrinogen alpha chain |
| Synonyms |
Fib, ENSMUSG00000059807 |
| MMRRC Submission |
040401-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.387)
|
| Stock # |
R2443 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
82933460-82940934 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82935848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 25
(K25R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029630]
[ENSMUST00000166581]
|
| AlphaFold |
E9PV24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029630
AA Change: K25R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: K25R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
Fib_alpha
|
49 |
193 |
1.29e-69 |
SMART |
|
low complexity region
|
264 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
340 |
N/A |
INTRINSIC |
|
Pfam:Fibrinogen_aC
|
392 |
458 |
1.6e-33 |
PFAM |
|
low complexity region
|
500 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166581
AA Change: K25R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: K25R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
Fib_alpha
|
49 |
193 |
1.29e-69 |
SMART |
|
low complexity region
|
264 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
340 |
N/A |
INTRINSIC |
|
Pfam:Fibrinogen_aC
|
392 |
457 |
9.3e-34 |
PFAM |
|
low complexity region
|
500 |
522 |
N/A |
INTRINSIC |
|
FBG
|
550 |
786 |
1.43e-128 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded protein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mice lacking the encoded protein display bleeding in the peritoneal cavity, skin and soft tissues around joints immediately after birth, and are predisposed to spontaneous fatal abdominal hemorrhage as they grow. Pregnant mice lacking the encoded protein succumb to uterine bleeding during gestation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
| Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
| Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
| Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
| Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
| Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
| Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
| Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
| Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
| Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
| Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
| Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
| Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
| Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
| Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
| Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
| Other mutations in Fga |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Fga
|
APN |
3 |
82,938,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00478:Fga
|
APN |
3 |
82,935,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00587:Fga
|
APN |
3 |
82,937,596 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01289:Fga
|
APN |
3 |
82,938,552 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01323:Fga
|
APN |
3 |
82,937,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01369:Fga
|
APN |
3 |
82,937,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01409:Fga
|
APN |
3 |
82,940,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Fga
|
APN |
3 |
82,940,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Fga
|
APN |
3 |
82,937,606 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01966:Fga
|
APN |
3 |
82,936,461 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02651:Fga
|
APN |
3 |
82,935,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02822:Fga
|
APN |
3 |
82,938,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Fga
|
APN |
3 |
82,940,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Fga
|
UTSW |
3 |
82,938,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Fga
|
UTSW |
3 |
82,935,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Fga
|
UTSW |
3 |
82,935,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Fga
|
UTSW |
3 |
82,935,925 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1517:Fga
|
UTSW |
3 |
82,939,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Fga
|
UTSW |
3 |
82,939,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1874:Fga
|
UTSW |
3 |
82,940,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Fga
|
UTSW |
3 |
82,940,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2267:Fga
|
UTSW |
3 |
82,940,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Fga
|
UTSW |
3 |
82,938,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Fga
|
UTSW |
3 |
82,940,461 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3978:Fga
|
UTSW |
3 |
82,937,490 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4597:Fga
|
UTSW |
3 |
82,938,542 (GRCm39) |
nonsense |
probably null |
|
|
R4644:Fga
|
UTSW |
3 |
82,937,573 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4760:Fga
|
UTSW |
3 |
82,938,821 (GRCm39) |
missense |
probably benign |
|
|
R4867:Fga
|
UTSW |
3 |
82,935,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5449:Fga
|
UTSW |
3 |
82,938,169 (GRCm39) |
frame shift |
probably null |
|
|
R5507:Fga
|
UTSW |
3 |
82,940,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Fga
|
UTSW |
3 |
82,940,440 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6853:Fga
|
UTSW |
3 |
82,938,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Fga
|
UTSW |
3 |
82,938,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Fga
|
UTSW |
3 |
82,933,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7724:Fga
|
UTSW |
3 |
82,936,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8153:Fga
|
UTSW |
3 |
82,938,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Fga
|
UTSW |
3 |
82,940,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Fga
|
UTSW |
3 |
82,939,064 (GRCm39) |
nonsense |
probably null |
|
|
R8523:Fga
|
UTSW |
3 |
82,938,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Fga
|
UTSW |
3 |
82,938,188 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8906:Fga
|
UTSW |
3 |
82,939,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9390:Fga
|
UTSW |
3 |
82,940,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Fga
|
UTSW |
3 |
82,940,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Fga
|
UTSW |
3 |
82,937,578 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTAAGAAACTGGCAGCC -3'
(R):5'- GACAATGTCCTTCGATTGGTTTCC -3'
Sequencing Primer
(F):5'- CTGTGGAAGCCAGCAGTACTG -3'
(R):5'- AGGTGTCTCTAGGACCCATTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation