Incidental Mutation 'IGL00821:F7'
| ID |
13460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F7
|
| Ensembl Gene |
ENSMUSG00000031443 |
| Gene Name |
coagulation factor VII |
| Synonyms |
FVII, Cf7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13078802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 78
(T78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033820]
|
| AlphaFold |
P70375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033820
AA Change: T78A
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
|
GLA
|
23 |
86 |
5.41e-30 |
SMART |
|
EGF_CA
|
87 |
123 |
2.58e-8 |
SMART |
|
EGF
|
131 |
169 |
1.99e0 |
SMART |
|
Tryp_SPc
|
193 |
428 |
1.14e-87 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a vitamin K-dependent serine protease that plays a critical role in the extrinsic pathway of blood coagulation. Upon contact with tissue factor III (TF III), the encoded protein forms an activated complex termed TF-FVIIa that initiates the coagulation cascade involving other coagulation factors, ultimately resulting in a fibrin clot. Complete lack of the encoded protein in mice results in in perinatal lethality due to bleeding from normal blood vessels. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation developed normally through embryogenesis, and exhibited no vascular defects; however, 70% of homozygous neonates suffered fatal intra-abdominal haemorrhaging and died within 24 hours after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
| Cpa2 |
A |
G |
6: 30,564,411 (GRCm39) |
D414G |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,217,106 (GRCm39) |
|
probably null |
Het |
| Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
| Odf2l |
T |
A |
3: 144,856,748 (GRCm39) |
S568T |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
| Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
| Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
| Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
| Ubxn7 |
G |
A |
16: 32,188,216 (GRCm39) |
D125N |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
| Zfp839 |
T |
C |
12: 110,831,441 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in F7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:F7
|
APN |
8 |
13,083,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01461:F7
|
APN |
8 |
13,082,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01700:F7
|
APN |
8 |
13,078,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03105:F7
|
APN |
8 |
13,084,001 (GRCm39) |
missense |
probably null |
0.07 |
|
IGL03241:F7
|
APN |
8 |
13,078,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:F7
|
UTSW |
8 |
13,085,209 (GRCm39) |
missense |
probably benign |
|
|
BB018:F7
|
UTSW |
8 |
13,085,209 (GRCm39) |
missense |
probably benign |
|
|
R0746:F7
|
UTSW |
8 |
13,084,740 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1587:F7
|
UTSW |
8 |
13,084,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1661:F7
|
UTSW |
8 |
13,085,209 (GRCm39) |
missense |
probably benign |
|
|
R2065:F7
|
UTSW |
8 |
13,085,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:F7
|
UTSW |
8 |
13,084,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4355:F7
|
UTSW |
8 |
13,084,774 (GRCm39) |
missense |
probably benign |
|
|
R5256:F7
|
UTSW |
8 |
13,080,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:F7
|
UTSW |
8 |
13,083,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6330:F7
|
UTSW |
8 |
13,085,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:F7
|
UTSW |
8 |
13,083,997 (GRCm39) |
missense |
probably benign |
|
|
R7452:F7
|
UTSW |
8 |
13,085,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7505:F7
|
UTSW |
8 |
13,078,745 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7931:F7
|
UTSW |
8 |
13,085,209 (GRCm39) |
missense |
probably benign |
|
|
R8273:F7
|
UTSW |
8 |
13,083,981 (GRCm39) |
missense |
probably benign |
|
|
R8939:F7
|
UTSW |
8 |
13,078,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:F7
|
UTSW |
8 |
13,076,087 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9130:F7
|
UTSW |
8 |
13,085,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:F7
|
UTSW |
8 |
13,085,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:F7
|
UTSW |
8 |
13,083,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:F7
|
UTSW |
8 |
13,083,953 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation