Incidental Mutation 'IGL02479:F8'
ID 295104
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: 0.328) question?
Stock # IGL02479
Quality Score
Status
Chromosome X
Chromosomal Location 74216321-74426221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74331846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 681 (N681K)
Ref Sequence ENSEMBL: ENSMUSP00000109719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033539] [ENSMUST00000114085]
AlphaFold Q06194
Predicted Effect probably benign
Transcript: ENSMUST00000033539
AA Change: N751K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
AA Change: N751K

DomainStartEndE-ValueType
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: N681K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
AA Change: N681K

DomainStartEndE-ValueType
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cask A T X: 13,423,297 (GRCm39) D502E probably damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
Epc2 T A 2: 49,422,147 (GRCm39) I347K probably benign Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Luc7l3 G A 11: 94,187,735 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Stk31 A G 6: 49,398,622 (GRCm39) E341G probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Vrk1 A T 12: 106,017,261 (GRCm39) Q95L probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in F8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-04-16