Incidental Mutation 'R2905:F7'
| ID |
261619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F7
|
| Ensembl Gene |
ENSMUSG00000031443 |
| Gene Name |
coagulation factor VII |
| Synonyms |
FVII, Cf7 |
| MMRRC Submission |
040492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13084775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 267
(T267I)
|
| 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: T267I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: T267I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
| Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
| Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
| Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
| Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCATGGTAGGATATGTGC -3'
(R):5'- CACCTCGATGGACATGAGTTC -3'
Sequencing Primer
(F):5'- CATGGTAGGATATGTGCCATGAG -3'
(R):5'- CTCGATGGACATGAGTTCCAGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation