Incidental Mutation 'IGL03004:F8'
| ID |
407489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F8
|
| Ensembl Gene |
ENSMUSG00000031196 |
| Gene Name |
coagulation factor VIII |
| Synonyms |
Cf8, Cf-8, FVIII, Factor VIII |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
IGL03004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
74216321-74426221 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74255658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 2045
(G2045D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033539]
[ENSMUST00000114085]
|
| AlphaFold |
Q06194 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033539
AA Change: G2115D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
AA Change: G2115D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
89 |
203 |
3.6e-7 |
PFAM |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
444 |
577 |
8.8e-7 |
PFAM |
|
low complexity region
|
1210 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1360 |
1375 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1683 |
2005 |
3.96e-46 |
PROSPERO |
|
FA58C
|
2007 |
2156 |
7.3e-48 |
SMART |
|
FA58C
|
2160 |
2313 |
2.36e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114085
AA Change: G2045D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
AA Change: G2045D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
89 |
203 |
3.1e-7 |
PFAM |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
446 |
577 |
7.4e-7 |
PFAM |
|
low complexity region
|
1140 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1198 |
1208 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1613 |
1838 |
3.99e-33 |
PROSPERO |
|
internal_repeat_1
|
1615 |
1935 |
1.02e-41 |
PROSPERO |
|
FA58C
|
1937 |
2086 |
7.3e-48 |
SMART |
|
FA58C
|
2090 |
2243 |
2.36e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping. [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 |
|---|
| Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
| Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
| Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
| Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
| Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
| Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
| Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
| Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
| Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
probably benign |
Het |
|
| Other mutations in F8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:F8
|
APN |
X |
74,377,786 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01079:F8
|
APN |
X |
74,330,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01101:F8
|
APN |
X |
74,330,993 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01160:F8
|
APN |
X |
74,331,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01397:F8
|
APN |
X |
74,423,145 (GRCm39) |
missense |
probably benign |
|
|
IGL02043:F8
|
APN |
X |
74,376,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02479:F8
|
APN |
X |
74,331,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02505:F8
|
APN |
X |
74,423,204 (GRCm39) |
intron |
probably benign |
|
|
IGL02869:F8
|
APN |
X |
74,330,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0657:F8
|
UTSW |
X |
74,255,022 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0699:F8
|
UTSW |
X |
74,423,230 (GRCm39) |
intron |
probably benign |
|
|
R2035:F8
|
UTSW |
X |
74,366,604 (GRCm39) |
frame shift |
probably null |
|
|
R2037:F8
|
UTSW |
X |
74,366,604 (GRCm39) |
frame shift |
probably null |
|
|
R3436:F8
|
UTSW |
X |
74,311,030 (GRCm39) |
splice site |
probably benign |
|
|
R3735:F8
|
UTSW |
X |
74,254,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:F8
|
UTSW |
X |
74,254,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:F8
|
UTSW |
X |
74,328,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0009:F8
|
UTSW |
X |
74,331,389 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1088:F8
|
UTSW |
X |
74,366,755 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation