Incidental Mutation 'R6115:F7'
| ID |
485080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F7
|
| Ensembl Gene |
ENSMUSG00000031443 |
| Gene Name |
coagulation factor VII |
| Synonyms |
FVII, Cf7 |
| MMRRC Submission |
044264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13076034-13085809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13083958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 214
(N214K)
|
| 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: N214K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: N214K
| 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 |
0.0875 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| 0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,517,411 (GRCm39) |
H402Q |
probably damaging |
Het |
| Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,374 (GRCm39) |
|
probably null |
Het |
| Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
| Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
| Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
| Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
| Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
| Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
| Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
| Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,522,444 (GRCm39) |
V307E |
possibly damaging |
Het |
| Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
| Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
| Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
| Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
| Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
| Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
| Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,667,148 (GRCm39) |
I151T |
probably damaging |
Het |
| Zfp110 |
A |
T |
7: 12,583,701 (GRCm39) |
Q783L |
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 |
|
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'- TGTTGTCTACCAGAGCCAGC -3'
(R):5'- CCACTCTTGAAGATATCACCTGG -3'
Sequencing Primer
(F):5'- GTTGTCTACCAGAGCCAGCAGATC -3'
(R):5'- CACCTGGTTAGAGACATTGTCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation