Incidental Mutation 'IGL01700:F7'
ID 104450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F7
Ensembl Gene ENSMUSG00000031443
Gene Name coagulation factor VII
Synonyms FVII, Cf7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01700
Quality Score
Status
Chromosome 8
Chromosomal Location 13026034-13035809 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13028685 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 39 (Q39K)
Ref Sequence ENSEMBL: ENSMUSP00000033820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033820]
AlphaFold P70375
Predicted Effect probably benign
Transcript: ENSMUST00000033820
AA Change: Q39K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: Q39K

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
GLA 23 86 5.41e-30 SMART
EGF_CA 87 123 2.58e-8 SMART
EGF 131 169 1.99e0 SMART
Tryp_SPc 193 428 1.14e-87 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a vitamin K-dependent serine protease that plays a critical role in the extrinsic pathway of blood coagulation. Upon contact with tissue factor III (TF III), the encoded protein forms an activated complex termed TF-FVIIa that initiates the coagulation cascade involving other coagulation factors, ultimately resulting in a fibrin clot. Complete lack of the encoded protein in mice results in in perinatal lethality due to bleeding from normal blood vessels. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation developed normally through embryogenesis, and exhibited no vascular defects; however, 70% of homozygous neonates suffered fatal intra-abdominal haemorrhaging and died within 24 hours after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in F7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:F7 APN 8 13028802 missense probably benign 0.11
IGL01012:F7 APN 8 13033409 missense probably damaging 0.99
IGL01461:F7 APN 8 13032245 missense possibly damaging 0.94
IGL03105:F7 APN 8 13034001 missense probably null 0.07
IGL03241:F7 APN 8 13028779 missense probably damaging 1.00
BB008:F7 UTSW 8 13035209 missense probably benign
BB018:F7 UTSW 8 13035209 missense probably benign
R0746:F7 UTSW 8 13034740 missense probably benign 0.02
R1587:F7 UTSW 8 13034783 missense possibly damaging 0.95
R1661:F7 UTSW 8 13035209 missense probably benign
R2065:F7 UTSW 8 13035183 missense probably damaging 1.00
R2905:F7 UTSW 8 13034775 missense probably benign 0.02
R4355:F7 UTSW 8 13034774 missense probably benign
R5256:F7 UTSW 8 13030763 missense probably damaging 1.00
R6115:F7 UTSW 8 13033958 missense probably benign 0.01
R6330:F7 UTSW 8 13035140 missense probably damaging 1.00
R7043:F7 UTSW 8 13033997 missense probably benign
R7452:F7 UTSW 8 13035215 missense probably benign 0.02
R7505:F7 UTSW 8 13028745 missense possibly damaging 0.57
R7931:F7 UTSW 8 13035209 missense probably benign
R8273:F7 UTSW 8 13033981 missense probably benign
R8939:F7 UTSW 8 13028724 missense probably damaging 1.00
R9028:F7 UTSW 8 13026087 missense possibly damaging 0.96
R9130:F7 UTSW 8 13035059 missense probably damaging 1.00
R9240:F7 UTSW 8 13035173 missense probably damaging 1.00
R9325:F7 UTSW 8 13033430 missense probably benign 0.00
Posted On 2014-01-21