Incidental Mutation 'IGL03105:F7'
| ID |
418929 |
| 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: 0.073)
|
| Stock # |
IGL03105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13084001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 229
(I229L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033820]
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
| AlphaFold |
P70375 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033820
AA Change: I229L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: I229L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033821
|
| SMART Domains |
Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
GLA
|
34 |
97 |
5.98e-32 |
SMART |
|
EGF_CA
|
98 |
134 |
4.56e-9 |
SMART |
|
EGF
|
140 |
177 |
2.66e-1 |
SMART |
|
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
243 |
471 |
9.03e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063820
|
| SMART Domains |
Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
GLA
|
22 |
85 |
5.98e-32 |
SMART |
|
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
|
EGF
|
128 |
165 |
2.66e-1 |
SMART |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
231 |
459 |
9.03e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123768
|
| SMART Domains |
Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
GLA
|
22 |
85 |
5.98e-32 |
SMART |
|
EGF
|
89 |
119 |
2.25e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128418
|
| SMART Domains |
Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
GLA
|
22 |
85 |
5.98e-32 |
SMART |
|
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
|
EGF
|
128 |
165 |
2.66e-1 |
SMART |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
232 |
298 |
4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152034
|
| SMART Domains |
Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
GLA
|
22 |
85 |
5.98e-32 |
SMART |
|
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
|
EGF
|
128 |
165 |
2.66e-1 |
SMART |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
232 |
297 |
1.1e-15 |
PFAM |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
| Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
| Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
| Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
| Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
| Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
| Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
| Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
| Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
| Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
| Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
probably damaging |
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 |
|
IGL01700:F7
|
APN |
8 |
13,078,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2016-08-02 |
Incidental Mutation