Incidental Mutation 'R3436:F8'
| ID |
267213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F8
|
| Ensembl Gene |
ENSMUSG00000031196 |
| Gene Name |
coagulation factor VIII |
| Synonyms |
Cf8, Cf-8, FVIII, Factor VIII |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
74216321-74426221 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 74311030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033539]
[ENSMUST00000114085]
|
| AlphaFold |
Q06194 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033539
|
| SMART Domains |
Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
| 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 benign
Transcript: ENSMUST00000114085
|
| SMART Domains |
Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118416
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
probably damaging |
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 |
|
IGL03004:F8
|
APN |
X |
74,255,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTTCTCATACTGTGACATGATG -3'
(R):5'- GGATCCACAAAGTGCTGATTTTC -3'
Sequencing Primer
(F):5'- AGGCCTAGACCAGTAGTTCTC -3'
(R):5'- ACAAAGTGCTGATTTTCTTCTGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation