Incidental Mutation 'IGL01104:F10'
| ID |
51769 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F10
|
| Ensembl Gene |
ENSMUSG00000031444 |
| Gene Name |
coagulation factor X |
| Synonyms |
fX, AI194738, Cf10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13087308-13106676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13105686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 417
(G417D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
| AlphaFold |
O88947 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033821
AA Change: G429D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: G429D
| 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 damaging
Transcript: ENSMUST00000063820
AA Change: G417D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: G417D
| 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes factor X, a component of both the intrinsic and extrinsic blood coagulation pathways. The encoded protein is a zymogen that undergoes further processing in a vitamin K-dependent manner to generate mature factor X, a heterodimer comprised of disulfide-linked heavy and light chains. The mature factor X is proteolytically activated either by factor IXa (intrinsic pathway) or factor VIIa (extrinsic pathway) to form factor Xa serine endopeptidase. Activated factor Xa catalyzes the conversion of prothrombin to thrombin. A complete lack of the encoded protein is fatal to mice. A severe deficiency of the encoded protein in mice causes age-dependent iron deposition and cardiac fibrosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
| AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
| Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,751,703 (GRCm39) |
V112E |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
| Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
| Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,522 (GRCm39) |
T459I |
probably damaging |
Het |
| Mtch1 |
T |
C |
17: 29,555,196 (GRCm39) |
D284G |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,466 (GRCm39) |
T323A |
possibly damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
| Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 13,027,142 (GRCm39) |
V16A |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
probably damaging |
Het |
|
| Other mutations in F10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:F10
|
APN |
8 |
13,105,383 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02010:F10
|
APN |
8 |
13,098,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02707:F10
|
APN |
8 |
13,098,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:F10
|
APN |
8 |
13,098,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL03354:F10
|
APN |
8 |
13,095,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
ju
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4494001:F10
|
UTSW |
8 |
13,103,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:F10
|
UTSW |
8 |
13,098,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:F10
|
UTSW |
8 |
13,103,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0416:F10
|
UTSW |
8 |
13,105,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:F10
|
UTSW |
8 |
13,095,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0545:F10
|
UTSW |
8 |
13,098,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:F10
|
UTSW |
8 |
13,105,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1732:F10
|
UTSW |
8 |
13,100,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:F10
|
UTSW |
8 |
13,105,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4130:F10
|
UTSW |
8 |
13,105,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4700:F10
|
UTSW |
8 |
13,089,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4989:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:F10
|
UTSW |
8 |
13,096,165 (GRCm39) |
splice site |
probably null |
|
|
R7601:F10
|
UTSW |
8 |
13,100,781 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8164:F10
|
UTSW |
8 |
13,100,781 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8936:F10
|
UTSW |
8 |
13,095,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:F10
|
UTSW |
8 |
13,089,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:F10
|
UTSW |
8 |
13,105,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:F10
|
UTSW |
8 |
13,098,177 (GRCm39) |
nonsense |
probably null |
|
|
X0024:F10
|
UTSW |
8 |
13,105,859 (GRCm39) |
missense |
probably benign |
|
|
Z1177:F10
|
UTSW |
8 |
13,087,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation