Incidental Mutation 'IGL02869:F8'
ID 362438
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 # IGL02869
Quality Score
Status
Chromosome X
Chromosomal Location 74216321-74426221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74330987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 968 (S968G)
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: S1038G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
AA Change: S1038G

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 benign
Transcript: ENSMUST00000114085
AA Change: S968G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
AA Change: S968G

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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,685,323 (GRCm39) S1142T possibly damaging Het
Aadacl4fm5 T C 4: 144,512,938 (GRCm39) I54V probably benign Het
Actr3b T G 5: 26,037,433 (GRCm39) V215G probably damaging Het
Adam9 C T 8: 25,460,634 (GRCm39) V617M probably damaging Het
Adgrl2 G T 3: 148,596,241 (GRCm39) P32T probably damaging Het
Afg2a G T 3: 37,518,694 (GRCm39) G743W probably damaging Het
Ago3 A T 4: 126,261,580 (GRCm39) probably benign Het
Allc A C 12: 28,623,206 (GRCm39) I20M probably benign Het
Asic3 G A 5: 24,621,972 (GRCm39) W361* probably null Het
Atf7ip A G 6: 136,583,577 (GRCm39) K1203E probably damaging Het
Babam2 C A 5: 32,162,116 (GRCm39) H272Q possibly damaging Het
Baz2b G A 2: 59,807,872 (GRCm39) T129I probably benign Het
C130073F10Rik A T 4: 101,747,590 (GRCm39) Y146* probably null Het
Cd247 A G 1: 165,684,986 (GRCm39) E74G probably damaging Het
Cdh17 A T 4: 11,814,908 (GRCm39) Q778L probably benign Het
Ceacam1 T C 7: 25,175,966 (GRCm39) D76G probably benign Het
Cela3a T C 4: 137,131,145 (GRCm39) K198E probably benign Het
Cemip2 T A 19: 21,789,241 (GRCm39) D558E probably damaging Het
Ces2a T A 8: 105,465,691 (GRCm39) D281E probably damaging Het
Cetn2 A T X: 71,958,527 (GRCm39) D116E probably damaging Het
Cracd A G 5: 77,006,890 (GRCm39) K1084E unknown Het
Ctu2 G T 8: 123,205,530 (GRCm39) probably null Het
Cybb T C X: 9,308,828 (GRCm39) N469D probably benign Het
Cygb C T 11: 116,540,749 (GRCm39) R79Q probably damaging Het
Cyp2d10 C T 15: 82,288,069 (GRCm39) V186M possibly damaging Het
Defb29 T A 2: 152,380,942 (GRCm39) probably null Het
Depdc7 T G 2: 104,560,694 (GRCm39) Q100P probably damaging Het
Dhx30 A C 9: 109,926,251 (GRCm39) I91R probably damaging Het
Dnm1l T A 16: 16,159,288 (GRCm39) K105* probably null Het
Eddm13 T C 7: 6,272,898 (GRCm39) probably benign Het
Efhc1 T C 1: 21,037,567 (GRCm39) I248T probably damaging Het
Elapor1 A G 3: 108,380,182 (GRCm39) I309T probably benign Het
Entpd2 A G 2: 25,288,120 (GRCm39) T115A probably damaging Het
Epb42 G T 2: 120,856,227 (GRCm39) A439E probably benign Het
Esm1 T G 13: 113,346,618 (GRCm39) L81R probably damaging Het
Fam234b T G 6: 135,202,201 (GRCm39) Y308D probably damaging Het
Fbxo46 T G 7: 18,871,139 (GRCm39) V586G probably damaging Het
Foxp1 C A 6: 98,907,044 (GRCm39) probably benign Het
Gm10754 A T 10: 97,518,136 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,370 (GRCm39) probably benign Het
Gm5468 T C 15: 25,414,726 (GRCm39) probably benign Het
Grhl1 T C 12: 24,631,490 (GRCm39) S66P probably damaging Het
Gstt3 A T 10: 75,612,576 (GRCm39) probably null Het
Gtf2i A G 5: 134,308,281 (GRCm39) probably benign Het
Gzmk C A 13: 113,308,560 (GRCm39) G175C probably damaging Het
Helz2 T C 2: 180,872,939 (GRCm39) probably benign Het
Ift20 T C 11: 78,430,780 (GRCm39) probably benign Het
Intu A G 3: 40,642,216 (GRCm39) D491G probably damaging Het
Itch G T 2: 155,015,853 (GRCm39) probably null Het
Itgb5 A G 16: 33,665,362 (GRCm39) N26S possibly damaging Het
Lama2 A T 10: 26,891,534 (GRCm39) S2526R probably damaging Het
Lat2 A G 5: 134,637,027 (GRCm39) I40T probably damaging Het
Lipa T A 19: 34,471,397 (GRCm39) M393L probably benign Het
Lipa G T 19: 34,471,371 (GRCm39) probably benign Het
Lpcat1 T A 13: 73,632,417 (GRCm39) L10H probably damaging Het
Lpcat3 T C 6: 124,679,970 (GRCm39) Y348H possibly damaging Het
Lrp1b A T 2: 40,591,842 (GRCm39) N50K unknown Het
Lrrk2 T A 15: 91,634,480 (GRCm39) Y1415N probably damaging Het
Lsamp A T 16: 41,965,078 (GRCm39) T312S probably benign Het
Man2a2 T C 7: 80,013,689 (GRCm39) E454G probably benign Het
Mcm3 T C 1: 20,879,063 (GRCm39) K570R probably damaging Het
Mctp2 C A 7: 71,878,219 (GRCm39) probably null Het
Msantd2 T G 9: 37,434,796 (GRCm39) C345W probably damaging Het
Musk T C 4: 58,354,078 (GRCm39) I362T probably benign Het
Myh15 A T 16: 48,965,767 (GRCm39) N1224I probably benign Het
Myo18a A G 11: 77,755,612 (GRCm39) Y1983C probably damaging Het
Myo18a C T 11: 77,720,699 (GRCm39) probably benign Het
Myrfl G T 10: 116,664,909 (GRCm39) Q374K probably damaging Het
Ndrg1 T A 15: 66,818,346 (GRCm39) Q87H probably benign Het
Nol9 G A 4: 152,131,030 (GRCm39) C351Y probably damaging Het
Nr5a1 A G 2: 38,598,141 (GRCm39) S219P probably benign Het
Or8b43 T C 9: 38,360,489 (GRCm39) F107S possibly damaging Het
Or8g28 A T 9: 39,169,520 (GRCm39) Y149* probably null Het
Pcdhb19 A G 18: 37,631,690 (GRCm39) D495G probably damaging Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Plec A T 15: 76,065,516 (GRCm39) L1586Q probably damaging Het
Prelp C A 1: 133,843,005 (GRCm39) E47* probably null Het
Rbm33 T A 5: 28,615,753 (GRCm39) I32N probably damaging Het
Rgs12 A T 5: 35,183,227 (GRCm39) D310V probably damaging Het
Ripor2 A C 13: 24,880,512 (GRCm39) H404P possibly damaging Het
Sh3d21 T C 4: 126,056,034 (GRCm39) E124G probably benign Het
Shroom2 C T X: 151,442,549 (GRCm39) S872N probably benign Het
Slc44a5 A G 3: 153,956,651 (GRCm39) Y301C probably damaging Het
Smap1 A T 1: 23,930,995 (GRCm39) H66Q possibly damaging Het
Smyd1 G T 6: 71,198,007 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,093,573 (GRCm39) probably benign Het
Srsf3-ps T A 11: 98,516,146 (GRCm39) R76* probably null Het
Stag3 A G 5: 138,280,955 (GRCm39) K49R probably damaging Het
Stim1 C A 7: 101,917,758 (GRCm39) A46E unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tbc1d19 A G 5: 53,992,559 (GRCm39) T114A probably benign Het
Tln2 G A 9: 67,128,807 (GRCm39) probably benign Het
Trmt10a T A 3: 137,857,945 (GRCm39) probably null Het
Vwde G A 6: 13,187,136 (GRCm39) H784Y probably damaging Het
Zfp773 T C 7: 7,137,232 (GRCm39) T121A probably benign 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
IGL02479:F8 APN X 74,331,846 (GRCm39) missense probably damaging 0.98
IGL02505:F8 APN X 74,423,204 (GRCm39) intron probably benign
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 2015-12-18