Incidental Mutation 'R7043:F7'
| ID |
547157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F7
|
| Ensembl Gene |
ENSMUSG00000031443 |
| Gene Name |
coagulation factor VII |
| Synonyms |
FVII, Cf7 |
| MMRRC Submission |
045142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R7043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13083997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 227
(R227S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033820]
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
| AlphaFold |
P70375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033820
AA Change: R227S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: R227S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,474 (GRCm39) |
L1596P |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,054,936 (GRCm39) |
M329V |
probably benign |
Het |
| Avpr1a |
C |
T |
10: 122,285,586 (GRCm39) |
R293C |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,215,215 (GRCm39) |
C390S |
probably benign |
Het |
| C2cd2l |
A |
T |
9: 44,227,848 (GRCm39) |
M131K |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,624,302 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,577 (GRCm39) |
D152G |
probably damaging |
Het |
| Cdpf1 |
A |
T |
15: 85,692,485 (GRCm39) |
V66E |
probably null |
Het |
| Chd9 |
G |
T |
8: 91,760,843 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,296,992 (GRCm39) |
T5794A |
probably damaging |
Het |
| Eif2s1 |
G |
T |
12: 78,923,882 (GRCm39) |
R113L |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,030 (GRCm39) |
D423G |
probably benign |
Het |
| Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,120 (GRCm39) |
I597S |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,835,876 (GRCm39) |
N343Y |
probably damaging |
Het |
| H2-T23 |
A |
T |
17: 36,342,803 (GRCm39) |
S112T |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,598,184 (GRCm39) |
P573S |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,150 (GRCm39) |
M159L |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,865,220 (GRCm39) |
S738R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,812,426 (GRCm39) |
N2393S |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,252,638 (GRCm39) |
Y427* |
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,422 (GRCm39) |
V581A |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,713,450 (GRCm39) |
L329P |
possibly damaging |
Het |
| Nthl1 |
T |
G |
17: 24,857,644 (GRCm39) |
V281G |
probably benign |
Het |
| Or52ab2 |
C |
A |
7: 102,970,292 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,347,130 (GRCm39) |
H1197Q |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,284,306 (GRCm39) |
D832G |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,093,328 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
T |
2: 181,291,297 (GRCm39) |
H704L |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,821,502 (GRCm39) |
|
probably null |
Het |
| Rimbp3 |
G |
A |
16: 17,028,972 (GRCm39) |
V799M |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,599 (GRCm39) |
A169T |
possibly damaging |
Het |
| Serpinb9f |
T |
C |
13: 33,509,970 (GRCm39) |
I54T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc35g3 |
T |
C |
11: 69,652,476 (GRCm39) |
D12G |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,053,323 (GRCm39) |
V2252A |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,706,110 (GRCm39) |
N1750S |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,019,435 (GRCm39) |
R543L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,022,193 (GRCm39) |
E7806G |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,501,049 (GRCm39) |
M334L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,706,779 (GRCm39) |
*234R |
probably null |
Het |
| Trp73 |
T |
G |
4: 154,151,464 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,727,477 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,200,098 (GRCm39) |
I452V |
probably benign |
Het |
| Wwox |
G |
T |
8: 115,406,578 (GRCm39) |
V190L |
probably damaging |
Het |
| Wwp2 |
A |
G |
8: 108,184,532 (GRCm39) |
H80R |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,681,485 (GRCm39) |
I532T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,226,539 (GRCm39) |
K328E |
probably damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,656 (GRCm39) |
S41P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTACCAGAGCCAGCAG -3'
(R):5'- GCCACTCTTGAAGATATCACCTGG -3'
Sequencing Primer
(F):5'- AGCAGATCTAGGGCTGCTCTAC -3'
(R):5'- CACCTGGTTAGAGACATTGTCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation