Incidental Mutation 'R6330:F7'
ID |
510858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F7
|
Ensembl Gene |
ENSMUSG00000031443 |
Gene Name |
coagulation factor VII |
Synonyms |
FVII, Cf7 |
MMRRC Submission |
044484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6330 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 13085140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 389
(H389Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033820]
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
AlphaFold |
P70375 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033820
AA Change: H389Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033820 Gene: ENSMUSG00000031443 AA Change: H389Y
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 |
0.1778 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly 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 |
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'- GCCAGAATCCGCTTCTCAAG -3'
(R):5'- AGCTACAGTAGTGGGAGTCG -3'
Sequencing Primer
(F):5'- AGAATCCGCTTCTCAAGGGTCAG -3'
(R):5'- TGGGAGTCGGAAAACCCC -3'
|
Posted On |
2018-04-02 |