Incidental Mutation 'IGL01700:F7'
ID |
104450 |
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 # |
IGL01700
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 13078685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 39
(Q39K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033820]
|
AlphaFold |
P70375 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033820
AA Change: Q39K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000033820 Gene: ENSMUSG00000031443 AA Change: Q39K
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in F7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:F7
|
APN |
8 |
13,078,802 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
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 |
2014-01-21 |