Incidental Mutation 'IGL02970:F2'
| ID |
365762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F2
|
| Ensembl Gene |
ENSMUSG00000027249 |
| Gene Name |
coagulation factor II |
| Synonyms |
Cf-2, FII, prothrombin, Cf2, thrombin |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91455665-91466759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91455896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 579
(Y579F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028681]
[ENSMUST00000046769]
[ENSMUST00000099716]
[ENSMUST00000111335]
[ENSMUST00000111337]
[ENSMUST00000111338]
|
| AlphaFold |
P19221 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028681
AA Change: Y580F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: Y580F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GLA
|
25 |
89 |
1.91e-30 |
SMART |
|
KR
|
107 |
189 |
7.47e-37 |
SMART |
|
KR
|
213 |
295 |
5.09e-30 |
SMART |
|
Tryp_SPc
|
360 |
610 |
9.99e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046769
|
| SMART Domains |
Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
227 |
9.27e-53 |
SMART |
|
low complexity region
|
234 |
261 |
N/A |
INTRINSIC |
|
TOG
|
269 |
506 |
1.36e-77 |
SMART |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
TOG
|
586 |
818 |
1.29e-69 |
SMART |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
TOG
|
850 |
1082 |
3.27e-71 |
SMART |
|
TOG
|
1191 |
1429 |
3.32e-63 |
SMART |
|
low complexity region
|
1685 |
1698 |
N/A |
INTRINSIC |
|
low complexity region
|
1759 |
1771 |
N/A |
INTRINSIC |
|
low complexity region
|
1981 |
1994 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099716
|
| SMART Domains |
Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
227 |
9.27e-53 |
SMART |
|
low complexity region
|
234 |
261 |
N/A |
INTRINSIC |
|
TOG
|
269 |
506 |
1.36e-77 |
SMART |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
TOG
|
586 |
818 |
1.29e-69 |
SMART |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
TOG
|
850 |
1082 |
3.27e-71 |
SMART |
|
TOG
|
1191 |
1429 |
3.32e-63 |
SMART |
|
low complexity region
|
1685 |
1698 |
N/A |
INTRINSIC |
|
low complexity region
|
1759 |
1771 |
N/A |
INTRINSIC |
|
low complexity region
|
1909 |
1921 |
N/A |
INTRINSIC |
|
low complexity region
|
2002 |
2015 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111335
AA Change: Y579F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: Y579F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GLA
|
25 |
89 |
1.91e-30 |
SMART |
|
KR
|
107 |
189 |
8.01e-37 |
SMART |
|
KR
|
212 |
294 |
5.09e-30 |
SMART |
|
Tryp_SPc
|
359 |
609 |
9.99e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111337
|
| SMART Domains |
Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
227 |
9.27e-53 |
SMART |
|
low complexity region
|
234 |
261 |
N/A |
INTRINSIC |
|
TOG
|
269 |
506 |
1.36e-77 |
SMART |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
TOG
|
586 |
818 |
1.29e-69 |
SMART |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
TOG
|
850 |
1082 |
3.27e-71 |
SMART |
|
TOG
|
1191 |
1429 |
3.32e-63 |
SMART |
|
low complexity region
|
1625 |
1638 |
N/A |
INTRINSIC |
|
low complexity region
|
1699 |
1711 |
N/A |
INTRINSIC |
|
low complexity region
|
1849 |
1861 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1955 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111338
|
| SMART Domains |
Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
| Domain | Start | End | E-Value | Type |
|---|
|
TOG
|
1 |
227 |
9.27e-53 |
SMART |
|
low complexity region
|
234 |
261 |
N/A |
INTRINSIC |
|
TOG
|
269 |
506 |
1.36e-77 |
SMART |
|
low complexity region
|
537 |
551 |
N/A |
INTRINSIC |
|
TOG
|
586 |
818 |
1.29e-69 |
SMART |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
TOG
|
850 |
1082 |
3.27e-71 |
SMART |
|
TOG
|
1191 |
1429 |
3.32e-63 |
SMART |
|
low complexity region
|
1685 |
1698 |
N/A |
INTRINSIC |
|
low complexity region
|
1759 |
1771 |
N/A |
INTRINSIC |
|
low complexity region
|
1909 |
1921 |
N/A |
INTRINSIC |
|
low complexity region
|
2002 |
2015 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a vitamin K-dependent glycoprotein coagulation factor that plays an important role in the process of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that undergoes enzymatic cleavage by the coagulation factor Xa to form an active serine protease that converts soluble fibrinogen to insoluble fibrin clot. Most of the mice lacking the encoded protein die at an embryonic stage due to defects in yolk sac vasculature, while the rare nenonates succumb to hemorrhage on the first postnatal day. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
Het |
|
| Other mutations in F2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02334:F2
|
APN |
2 |
91,463,439 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02390:F2
|
APN |
2 |
91,463,332 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02859:F2
|
APN |
2 |
91,456,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:F2
|
APN |
2 |
91,465,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
Sarode
|
UTSW |
2 |
91,465,539 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0007:F2
|
UTSW |
2 |
91,460,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0015:F2
|
UTSW |
2 |
91,460,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0137:F2
|
UTSW |
2 |
91,456,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:F2
|
UTSW |
2 |
91,460,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:F2
|
UTSW |
2 |
91,463,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0601:F2
|
UTSW |
2 |
91,463,656 (GRCm39) |
splice site |
probably null |
|
|
R0830:F2
|
UTSW |
2 |
91,460,545 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1693:F2
|
UTSW |
2 |
91,459,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:F2
|
UTSW |
2 |
91,459,175 (GRCm39) |
nonsense |
probably null |
|
|
R1763:F2
|
UTSW |
2 |
91,465,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:F2
|
UTSW |
2 |
91,465,539 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1955:F2
|
UTSW |
2 |
91,463,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2055:F2
|
UTSW |
2 |
91,458,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2168:F2
|
UTSW |
2 |
91,458,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2230:F2
|
UTSW |
2 |
91,456,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3916:F2
|
UTSW |
2 |
91,455,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:F2
|
UTSW |
2 |
91,458,741 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4134:F2
|
UTSW |
2 |
91,459,553 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4298:F2
|
UTSW |
2 |
91,459,665 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4626:F2
|
UTSW |
2 |
91,461,015 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4902:F2
|
UTSW |
2 |
91,465,316 (GRCm39) |
intron |
probably benign |
|
|
R5093:F2
|
UTSW |
2 |
91,465,302 (GRCm39) |
splice site |
probably benign |
|
|
R5095:F2
|
UTSW |
2 |
91,465,302 (GRCm39) |
splice site |
probably benign |
|
|
R5140:F2
|
UTSW |
2 |
91,465,302 (GRCm39) |
splice site |
probably benign |
|
|
R5229:F2
|
UTSW |
2 |
91,460,586 (GRCm39) |
nonsense |
probably null |
|
|
R5271:F2
|
UTSW |
2 |
91,465,466 (GRCm39) |
intron |
probably benign |
|
|
R5335:F2
|
UTSW |
2 |
91,465,277 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7650:F2
|
UTSW |
2 |
91,458,741 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7762:F2
|
UTSW |
2 |
91,459,041 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8178:F2
|
UTSW |
2 |
91,460,618 (GRCm39) |
splice site |
probably null |
|
|
R8976:F2
|
UTSW |
2 |
91,466,738 (GRCm39) |
missense |
probably benign |
|
|
R9458:F2
|
UTSW |
2 |
91,461,113 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation