Incidental Mutation 'R0020:F3'
| ID |
64732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F3
|
| Ensembl Gene |
ENSMUSG00000028128 |
| Gene Name |
coagulation factor III |
| Synonyms |
Cf-3, tissue factor, TF, Cf3, CD142 |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
84 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121517186-121528697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121525265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 169
(N169Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029771]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029771
AA Change: N169Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: N169Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
12 |
110 |
1.1e-26 |
PFAM |
|
Pfam:Interfer-bind
|
138 |
245 |
5.1e-26 |
PFAM |
|
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197731
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000199997
AA Change: N34Y
|
| Meta Mutation Damage Score |
0.4435 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: This gene encodes a membrane-bound glycoprotein that forms the primary physiological initiator of the blood coagulation process following vascular damage. The encoded protein binds to coagulation factor VIIa and the ensuing complex catalyzes the proteolytic activation of coagulation factors IX and X. Mice lacking encoded protein die in utero resulting from massive hemorrhaging in both extraembryonic and embryonic vessels. A severe deficiency of the encoded protein in mice results in impaired uterine homeostasis, shorter life spans due to spontaneous fatal hemorrhages and cardiac fibrosis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired blood vessel development, retarded growth, and, in most cases, midgestational lethality. On a mixed background, some mutants survive to birth and appear to be normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(5) Targeted, other(2) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
T |
C |
10: 67,383,927 (GRCm39) |
D226G |
probably benign |
Het |
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Cd2bp2 |
G |
A |
7: 126,792,996 (GRCm39) |
T342M |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,038,475 (GRCm39) |
|
probably benign |
Het |
| Dbh |
A |
G |
2: 27,060,584 (GRCm39) |
|
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,528 (GRCm39) |
K53R |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,371 (GRCm39) |
Y174C |
probably damaging |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| Fbn2 |
G |
T |
18: 58,238,236 (GRCm39) |
T587K |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,913 (GRCm39) |
I55T |
probably damaging |
Het |
| Gm12695 |
G |
C |
4: 96,657,972 (GRCm39) |
P66A |
probably damaging |
Het |
| Gon4l |
G |
T |
3: 88,766,244 (GRCm39) |
V428L |
probably damaging |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,241 (GRCm39) |
D92G |
probably null |
Het |
| Inhba |
A |
C |
13: 16,200,949 (GRCm39) |
K170N |
possibly damaging |
Het |
| Kng2 |
A |
G |
16: 22,816,046 (GRCm39) |
V317A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,118,500 (GRCm39) |
E562G |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,149,797 (GRCm39) |
H468L |
probably damaging |
Het |
| Nphs1 |
G |
T |
7: 30,162,633 (GRCm39) |
V357L |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,413 (GRCm39) |
V158E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,687 (GRCm39) |
T1275A |
unknown |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,429 (GRCm39) |
M634L |
probably benign |
Het |
| Ppp2r5c |
C |
T |
12: 110,541,257 (GRCm39) |
Q469* |
probably null |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prss43 |
C |
A |
9: 110,657,580 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,334,772 (GRCm39) |
N1444K |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slamf9 |
T |
C |
1: 172,303,082 (GRCm39) |
S7P |
possibly damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,782 (GRCm39) |
M303K |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,796,108 (GRCm38) |
F1116I |
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,991 (GRCm39) |
|
probably benign |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,495,227 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
Het |
|
| Other mutations in F3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02506:F3
|
APN |
3 |
121,525,323 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
G5030:F3
|
UTSW |
3 |
121,518,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:F3
|
UTSW |
3 |
121,525,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:F3
|
UTSW |
3 |
121,518,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:F3
|
UTSW |
3 |
121,523,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1371:F3
|
UTSW |
3 |
121,526,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:F3
|
UTSW |
3 |
121,523,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:F3
|
UTSW |
3 |
121,526,082 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2366:F3
|
UTSW |
3 |
121,526,194 (GRCm39) |
splice site |
probably null |
|
|
R2471:F3
|
UTSW |
3 |
121,518,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:F3
|
UTSW |
3 |
121,527,763 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5752:F3
|
UTSW |
3 |
121,526,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:F3
|
UTSW |
3 |
121,518,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:F3
|
UTSW |
3 |
121,525,323 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6845:F3
|
UTSW |
3 |
121,526,124 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6867:F3
|
UTSW |
3 |
121,523,020 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7145:F3
|
UTSW |
3 |
121,525,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:F3
|
UTSW |
3 |
121,525,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8865:F3
|
UTSW |
3 |
121,523,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:F3
|
UTSW |
3 |
121,527,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9563:F3
|
UTSW |
3 |
121,527,822 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCGATGGAGGAGCTGTCAATTAC -3'
(R):5'- AGGAGGACCTGTTATGCACACCAC -3'
Sequencing Primer
(F):5'- GGAGCTGTCAATTACGATAACTAAG -3'
(R):5'- CATTCCTCCATATTTGAACTGGGAAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation