Incidental Mutation 'R5529:F12'
ID 433595
Institutional Source Beutler Lab
Gene Symbol F12
Ensembl Gene ENSMUSG00000021492
Gene Name coagulation factor XII (Hageman factor)
Synonyms FXII
MMRRC Submission 043087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5529 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55565771-55574606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55569872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 102 (N102S)
Ref Sequence ENSEMBL: ENSMUSP00000021948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000170921]
AlphaFold Q80YC5
Predicted Effect probably benign
Transcript: ENSMUST00000021948
AA Change: N102S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: N102S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FN2 40 88 4.3e-24 SMART
EGF 97 131 4.22e-4 SMART
FN1 135 175 2.4e-13 SMART
EGF 177 210 3.94e-4 SMART
KR 215 297 6.88e-27 SMART
low complexity region 302 320 N/A INTRINSIC
Tryp_SPc 354 591 7.74e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170921
SMART Domains Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492

DomainStartEndE-ValueType
Tryp_SPc 2 137 3.4e-7 SMART
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from ischemic brain injury in an experimental stroke model, without exhibiting an increase in infarct-associated hemorrhage. Another null mouse shows decreased plasma bradykinin levels and prolonged activated partial thromboplastin times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,304,040 (GRCm39) Y2079C probably damaging Het
Alg2 T C 4: 47,472,101 (GRCm39) R236G probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Ky C T 9: 102,419,274 (GRCm39) S427L probably benign Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Setd5 T C 6: 113,098,529 (GRCm39) Y721H probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zbtb40 A G 4: 136,710,474 (GRCm39) F1222L possibly damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G probably damaging Het
Other mutations in F12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02535:F12 APN 13 55,574,157 (GRCm39) missense possibly damaging 0.83
IGL02756:F12 APN 13 55,568,880 (GRCm39) missense possibly damaging 0.58
IGL03030:F12 APN 13 55,569,332 (GRCm39) intron probably benign
R0049:F12 UTSW 13 55,574,130 (GRCm39) missense probably benign 0.00
R0049:F12 UTSW 13 55,574,130 (GRCm39) missense probably benign 0.00
R0646:F12 UTSW 13 55,570,296 (GRCm39) intron probably benign
R1670:F12 UTSW 13 55,569,346 (GRCm39) missense probably damaging 1.00
R1896:F12 UTSW 13 55,568,540 (GRCm39) missense probably damaging 1.00
R3508:F12 UTSW 13 55,568,872 (GRCm39) missense probably benign
R3548:F12 UTSW 13 55,565,950 (GRCm39) missense probably benign 0.03
R3856:F12 UTSW 13 55,569,035 (GRCm39) splice site probably null
R4583:F12 UTSW 13 55,568,943 (GRCm39) missense probably benign 0.04
R5177:F12 UTSW 13 55,567,981 (GRCm39) missense probably benign 0.08
R5369:F12 UTSW 13 55,566,304 (GRCm39) missense probably benign 0.13
R5637:F12 UTSW 13 55,570,228 (GRCm39) missense possibly damaging 0.57
R6812:F12 UTSW 13 55,569,658 (GRCm39) missense probably damaging 0.97
R7156:F12 UTSW 13 55,566,310 (GRCm39) missense probably damaging 1.00
R8007:F12 UTSW 13 55,566,265 (GRCm39) missense probably damaging 1.00
R8348:F12 UTSW 13 55,566,301 (GRCm39) missense probably benign 0.19
R8374:F12 UTSW 13 55,569,144 (GRCm39) missense probably damaging 1.00
R8448:F12 UTSW 13 55,566,301 (GRCm39) missense probably benign 0.19
R8844:F12 UTSW 13 55,568,198 (GRCm39) missense probably damaging 1.00
R8976:F12 UTSW 13 55,569,777 (GRCm39) intron probably benign
R9779:F12 UTSW 13 55,566,012 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-10-06