Incidental Mutation 'IGL02707:F10'
| ID |
304400 |
| 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 # |
IGL02707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13087308-13106676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13098252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 152
(A152T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
| AlphaFold |
O88947 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033821
AA Change: A164T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: A164T
| 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: A152T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: A152T
| 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 damaging
Transcript: ENSMUST00000128418
AA Change: A152T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: A152T
| 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 damaging
Transcript: ENSMUST00000152034
AA Change: A152T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: A152T
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,928 (GRCm39) |
T149A |
probably benign |
Het |
| 4932414N04Rik |
A |
C |
2: 68,561,474 (GRCm39) |
Q267P |
possibly damaging |
Het |
| Actr5 |
T |
C |
2: 158,478,617 (GRCm39) |
V489A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,972,895 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,290,567 (GRCm39) |
N509S |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,085,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,165,476 (GRCm39) |
H628Q |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,001,123 (GRCm39) |
I486N |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,558,787 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
G |
10: 126,842,431 (GRCm39) |
D70G |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,645,780 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,464,180 (GRCm39) |
I717K |
probably damaging |
Het |
| Chd4 |
G |
T |
6: 125,085,730 (GRCm39) |
A875S |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,471,237 (GRCm39) |
M706K |
unknown |
Het |
| Cr1l |
T |
C |
1: 194,806,019 (GRCm39) |
T155A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,844 (GRCm39) |
N10S |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,450,843 (GRCm39) |
V854A |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,823,091 (GRCm39) |
T845A |
possibly damaging |
Het |
| Gabrg3 |
C |
A |
7: 56,632,439 (GRCm39) |
E170* |
probably null |
Het |
| Heatr5a |
A |
G |
12: 51,968,149 (GRCm39) |
V829A |
probably benign |
Het |
| Htt |
T |
A |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
| Icam4 |
T |
C |
9: 20,941,770 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Jph1 |
A |
G |
1: 17,074,675 (GRCm39) |
S448P |
probably benign |
Het |
| Kansl1l |
G |
A |
1: 66,812,604 (GRCm39) |
L125F |
probably damaging |
Het |
| Kifc1 |
A |
T |
17: 34,100,467 (GRCm39) |
C46* |
probably null |
Het |
| Lce3b |
A |
G |
3: 92,841,193 (GRCm39) |
D96G |
unknown |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mctp2 |
A |
G |
7: 71,909,089 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,274 (GRCm39) |
I200V |
probably benign |
Het |
| Msr1 |
T |
C |
8: 40,085,870 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,224,084 (GRCm39) |
T6I |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,828,438 (GRCm39) |
|
probably benign |
Het |
| Myoc |
T |
A |
1: 162,467,029 (GRCm39) |
I66N |
probably benign |
Het |
| Or10d1b |
T |
C |
9: 39,613,937 (GRCm39) |
I43V |
probably damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,171 (GRCm39) |
Y162N |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,609 (GRCm39) |
L100W |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,136 (GRCm39) |
C76R |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,859 (GRCm39) |
C215R |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,759 (GRCm39) |
L251S |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,378,450 (GRCm39) |
D33G |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,821,793 (GRCm39) |
I295V |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,063,270 (GRCm39) |
S19P |
probably damaging |
Het |
| Rps6kb1 |
C |
A |
11: 86,426,236 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,275,648 (GRCm39) |
T194I |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,029,790 (GRCm39) |
|
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,428,759 (GRCm39) |
S449P |
probably benign |
Het |
| Thrb |
A |
C |
14: 18,026,721 (GRCm38) |
I275L |
probably benign |
Het |
| Tjp1 |
T |
A |
7: 64,979,431 (GRCm39) |
K365* |
probably null |
Het |
| Tjp1 |
T |
A |
7: 64,979,430 (GRCm39) |
K365I |
possibly damaging |
Het |
| Tm4sf4 |
C |
A |
3: 57,333,939 (GRCm39) |
C75* |
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Txndc16 |
T |
C |
14: 45,399,730 (GRCm39) |
T408A |
probably benign |
Het |
| Ube2j1 |
T |
C |
4: 33,038,206 (GRCm39) |
L38P |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,425 (GRCm39) |
I1044T |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation