Incidental Mutation 'R2436:Fgg'
| ID |
249573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgg
|
| Ensembl Gene |
ENSMUSG00000033860 |
| Gene Name |
fibrinogen gamma chain |
| Synonyms |
3010002H13Rik, gamma-fibrinogen |
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.738)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
82915031-82922356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82921496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 393
(I393N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048486]
[ENSMUST00000194175]
|
| AlphaFold |
Q8VCM7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048486
AA Change: I393N
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: I393N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Fib_alpha
|
28 |
172 |
1.09e-72 |
SMART |
|
FBG
|
173 |
414 |
6.77e-130 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194175
AA Change: I393N
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: I393N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Fib_alpha
|
28 |
172 |
1.09e-72 |
SMART |
|
FBG
|
173 |
414 |
6.77e-130 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the gamma subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Mice lacking the encoded protein did not possess detectable amounts of plasma fibrinogen. Pregnant mice lacking the encoded protein die due to heavy bleeding during delivery. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Pregnant homozygous null mice exhibit retarded embryo-placental development, spontaneous abortion, and maternal death through excessive uterine bleeding. Mutants expressing a truncated polypeptide show reduced platelet aggregation, increased bleeding time, and occasional fatal neonatal bleeding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
| Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
Het |
|
| Other mutations in Fgg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01357:Fgg
|
APN |
3 |
82,921,535 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01713:Fgg
|
APN |
3 |
82,915,723 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02288:Fgg
|
APN |
3 |
82,915,460 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02994:Fgg
|
APN |
3 |
82,915,781 (GRCm39) |
missense |
probably benign |
|
|
PIT4519001:Fgg
|
UTSW |
3 |
82,920,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Fgg
|
UTSW |
3 |
82,920,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2137:Fgg
|
UTSW |
3 |
82,915,745 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2400:Fgg
|
UTSW |
3 |
82,915,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3429:Fgg
|
UTSW |
3 |
82,920,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Fgg
|
UTSW |
3 |
82,920,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Fgg
|
UTSW |
3 |
82,917,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Fgg
|
UTSW |
3 |
82,917,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Fgg
|
UTSW |
3 |
82,915,677 (GRCm39) |
splice site |
probably benign |
|
|
R4898:Fgg
|
UTSW |
3 |
82,915,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4938:Fgg
|
UTSW |
3 |
82,920,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4967:Fgg
|
UTSW |
3 |
82,920,072 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5635:Fgg
|
UTSW |
3 |
82,918,730 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5740:Fgg
|
UTSW |
3 |
82,918,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6307:Fgg
|
UTSW |
3 |
82,920,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6731:Fgg
|
UTSW |
3 |
82,920,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Fgg
|
UTSW |
3 |
82,915,727 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7582:Fgg
|
UTSW |
3 |
82,921,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Fgg
|
UTSW |
3 |
82,920,433 (GRCm39) |
splice site |
probably null |
|
|
R8258:Fgg
|
UTSW |
3 |
82,917,477 (GRCm39) |
nonsense |
probably null |
|
|
R8259:Fgg
|
UTSW |
3 |
82,917,477 (GRCm39) |
nonsense |
probably null |
|
|
R8290:Fgg
|
UTSW |
3 |
82,920,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Fgg
|
UTSW |
3 |
82,920,322 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8826:Fgg
|
UTSW |
3 |
82,921,625 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGGGATGTTGTCAATTAGGAG -3'
(R):5'- ATTGGAACTCTGTACAGGCC -3'
Sequencing Primer
(F):5'- GGAAGTGCTGTAGACTTCACG -3'
(R):5'- TTGGAACTCTGTACAGGCCAATAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation