Incidental Mutation 'IGL01160:F8'
ID54105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F8
Ensembl Gene ENSMUSG00000031196
Gene Namecoagulation factor VIII
SynonymsFVIII, Cf8, Factor VIII, Cf-8
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.398) question?
Stock #IGL01160
Quality Score
Status
ChromosomeX
Chromosomal Location75172715-75382615 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75288061 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 741 (M741K)
Ref Sequence ENSEMBL: ENSMUSP00000109719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033539] [ENSMUST00000114085]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033539
AA Change: M811K

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
AA Change: M811K

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: M741K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
AA Change: M741K

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in F8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:F8 APN X 75334180 unclassified probably benign
IGL01079:F8 APN X 75286618 missense probably damaging 0.98
IGL01101:F8 APN X 75287387 missense possibly damaging 0.62
IGL01397:F8 APN X 75379539 missense probably benign
IGL02043:F8 APN X 75332641 missense probably benign 0.00
IGL02479:F8 APN X 75288240 missense probably damaging 0.98
IGL02505:F8 APN X 75379598 intron probably benign
IGL02869:F8 APN X 75287381 missense probably benign 0.00
IGL03004:F8 APN X 75212052 missense probably damaging 1.00
R0657:F8 UTSW X 75211416 missense possibly damaging 0.86
R0699:F8 UTSW X 75379624 intron probably benign
R2035:F8 UTSW X 75322998 frame shift probably null
R2037:F8 UTSW X 75322998 frame shift probably null
R3436:F8 UTSW X 75267424 splice site probably benign
R3735:F8 UTSW X 75211375 missense probably damaging 1.00
R3736:F8 UTSW X 75211375 missense probably damaging 1.00
R3792:F8 UTSW X 75285365 critical splice donor site probably null
X0009:F8 UTSW X 75287783 missense probably benign 0.36
Z1088:F8 UTSW X 75323149 splice site probably null
Posted On2013-06-28