Incidental Mutation 'IGL03354:F10'
| ID |
419842 |
| 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 # |
IGL03354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13087308-13106676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13095089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 82
(T82N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
| AlphaFold |
O88947 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033821
AA Change: T94N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: T94N
| 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
AA Change: T82N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: T82N
| 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
AA Change: T82N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444
AA Change: T82N
| 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
AA Change: T82N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: T82N
| 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
AA Change: T82N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: T82N
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,041 (GRCm39) |
A309T |
possibly damaging |
Het |
| Abca15 |
C |
A |
7: 119,993,711 (GRCm39) |
Y1310* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,160,322 (GRCm39) |
C552F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,208,890 (GRCm39) |
S180P |
possibly damaging |
Het |
| Anxa10 |
A |
T |
8: 62,549,778 (GRCm39) |
D22E |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,174 (GRCm39) |
S1255P |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,809,929 (GRCm39) |
T92A |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,782,432 (GRCm39) |
P603S |
probably benign |
Het |
| Camk2d |
T |
C |
3: 126,590,615 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,419,102 (GRCm39) |
I808N |
probably damaging |
Het |
| Cd200r3 |
C |
T |
16: 44,773,960 (GRCm39) |
A124V |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,482,050 (GRCm39) |
E310G |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,162 (GRCm39) |
D357V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,124,849 (GRCm39) |
V173I |
probably damaging |
Het |
| Dnajb4 |
T |
A |
3: 151,892,115 (GRCm39) |
E239D |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,149,981 (GRCm39) |
|
probably benign |
Het |
| Emp2 |
A |
G |
16: 10,103,429 (GRCm39) |
I74T |
probably damaging |
Het |
| Ermn |
T |
G |
2: 57,942,634 (GRCm39) |
E32A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,951 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm527 |
T |
A |
12: 64,969,154 (GRCm39) |
F194I |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,703,140 (GRCm39) |
T98M |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,221,512 (GRCm39) |
R330G |
possibly damaging |
Het |
| H1f4 |
C |
T |
13: 23,806,060 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,957 (GRCm39) |
H549R |
probably damaging |
Het |
| Klhl14 |
T |
A |
18: 21,784,785 (GRCm39) |
D214V |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,270 (GRCm39) |
F248S |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,810,992 (GRCm39) |
V661I |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,992,373 (GRCm39) |
M1616L |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,448,465 (GRCm39) |
I223F |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,524 (GRCm39) |
S64C |
possibly damaging |
Het |
| Or1j18 |
G |
T |
2: 36,624,525 (GRCm39) |
S64I |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,654 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,307 (GRCm39) |
V239A |
probably benign |
Het |
| Or2b28 |
T |
C |
13: 21,531,686 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or4c3d |
A |
C |
2: 89,881,911 (GRCm39) |
C252W |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,735 (GRCm39) |
C179S |
possibly damaging |
Het |
| Or5w1b |
T |
C |
2: 87,475,939 (GRCm39) |
N176S |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,893 (GRCm39) |
D116G |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,388,174 (GRCm39) |
D440G |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,466,703 (GRCm39) |
E129G |
probably null |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,715,302 (GRCm39) |
L248P |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,456,197 (GRCm39) |
Y90* |
probably null |
Het |
| Schip1 |
A |
G |
3: 68,402,298 (GRCm39) |
D125G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,330,941 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,597,303 (GRCm39) |
S62P |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,256,022 (GRCm39) |
V656A |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,509,730 (GRCm39) |
L840P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,834,082 (GRCm39) |
I438N |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,227,026 (GRCm39) |
F829L |
probably benign |
Het |
| Zdhhc11 |
A |
T |
13: 74,127,264 (GRCm39) |
I214F |
possibly damaging |
Het |
|
| Other mutations in F10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:F10
|
APN |
8 |
13,105,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation