Incidental Mutation 'R0049:F12'
ID 15903
Institutional Source Beutler Lab
Gene Symbol F12
Ensembl Gene ENSMUSG00000021492
Gene Name coagulation factor XII (Hageman factor)
Synonyms FXII
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0049 (G1)
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 55565771-55574606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55574130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 34 (D34G)
Ref Sequence ENSEMBL: ENSMUSP00000125771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000170921]
AlphaFold Q80YC5
Predicted Effect probably benign
Transcript: ENSMUST00000021948
AA Change: D34G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: D34G

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
AA Change: D34G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492
AA Change: D34G

DomainStartEndE-ValueType
Tryp_SPc 2 137 3.4e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.7%
  • 10x: 82.4%
  • 20x: 74.6%
Validation Efficiency 89% (108/122)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,267 (GRCm39) H9L possibly damaging Het
Aars1 T A 8: 111,779,083 (GRCm39) I739K possibly damaging Het
Acod1 T A 14: 103,292,643 (GRCm39) I389K possibly damaging Het
Akap1 C A 11: 88,730,450 (GRCm39) probably null Het
Anxa7 T C 14: 20,512,678 (GRCm39) D285G probably damaging Het
Arhgap1 T C 2: 91,500,514 (GRCm39) Y308H probably damaging Het
Arhgef11 T A 3: 87,636,500 (GRCm39) probably null Het
Atosb A T 4: 43,036,441 (GRCm39) S97T probably benign Het
Atp6v0a4 G A 6: 38,059,016 (GRCm39) R256C probably damaging Het
Camsap3 C A 8: 3,648,772 (GRCm39) S163R probably benign Het
Ccdc110 A T 8: 46,395,663 (GRCm39) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm39) probably null Het
Ccnt1 T C 15: 98,462,960 (GRCm39) M71V probably benign Het
Celsr2 T A 3: 108,304,570 (GRCm39) Y2263F probably benign Het
Cfap69 T C 5: 5,663,734 (GRCm39) T498A probably benign Het
Clstn3 T A 6: 124,436,812 (GRCm39) I132F possibly damaging Het
Cnot4 A G 6: 35,028,212 (GRCm39) V468A probably benign Het
Crmp1 T G 5: 37,422,617 (GRCm39) D141E possibly damaging Het
Cryz C A 3: 154,317,189 (GRCm39) A136D probably damaging Het
Dcst2 T C 3: 89,278,913 (GRCm39) V550A probably benign Het
Dph6 A G 2: 114,353,525 (GRCm39) V221A probably benign Het
Ecm2 A T 13: 49,677,922 (GRCm39) K403* probably null Het
Eif3d T C 15: 77,843,924 (GRCm39) N474S probably benign Het
Fam228b A T 12: 4,798,117 (GRCm39) F200Y probably damaging Het
Fgl2 T A 5: 21,580,661 (GRCm39) D334E possibly damaging Het
Fras1 T A 5: 96,924,481 (GRCm39) F3641I probably benign Het
Gabrb2 T G 11: 42,484,674 (GRCm39) Y244D probably damaging Het
Gcc1 A T 6: 28,421,268 (GRCm39) D16E probably benign Het
Gm10648 T C 7: 28,561,202 (GRCm39) probably benign Het
Gorasp2 T C 2: 70,521,067 (GRCm39) S346P possibly damaging Het
Htt A C 5: 35,066,006 (GRCm39) K3060N probably damaging Het
Ibsp C T 5: 104,450,024 (GRCm39) L8F probably damaging Het
Kif27 A T 13: 58,451,378 (GRCm39) D983E probably damaging Het
Kif3a T A 11: 53,481,560 (GRCm39) probably benign Het
Kif3c A C 12: 3,417,090 (GRCm39) K370N possibly damaging Het
Loxhd1 T C 18: 77,468,256 (GRCm39) probably benign Het
Maz A T 7: 126,623,758 (GRCm39) D74E probably damaging Het
Med21 T C 6: 146,551,732 (GRCm39) S128P probably damaging Het
Mms19 A C 19: 41,943,607 (GRCm39) M374R probably damaging Het
Mrpl3 T C 9: 104,932,872 (GRCm39) V111A probably benign Het
Mtfr2 T A 10: 20,224,158 (GRCm39) Y31N probably damaging Het
Neb A C 2: 52,060,479 (GRCm39) M2286R possibly damaging Het
Ngf A T 3: 102,427,661 (GRCm39) R137* probably null Het
Nr1i3 T A 1: 171,041,982 (GRCm39) V22E probably damaging Het
Nxpe5 T C 5: 138,249,566 (GRCm39) V452A probably damaging Het
Or11g27 A T 14: 50,771,151 (GRCm39) K94M probably damaging Het
Pax3 A G 1: 78,080,141 (GRCm39) L415P probably damaging Het
Pcnt G T 10: 76,205,655 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,672 (GRCm39) D183E possibly damaging Het
Pglyrp1 G T 7: 18,623,313 (GRCm39) G120V probably damaging Het
Pomt1 T A 2: 32,142,023 (GRCm39) H584Q possibly damaging Het
Prkcq G A 2: 11,288,643 (GRCm39) G532E probably benign Het
Pwp1 A G 10: 85,721,480 (GRCm39) T361A possibly damaging Het
Rab4a A T 8: 124,554,081 (GRCm39) H5L probably damaging Het
Ramp1 T C 1: 91,124,592 (GRCm39) I51T possibly damaging Het
Raph1 G T 1: 60,565,058 (GRCm39) T143K probably benign Het
Rhpn1 A G 15: 75,581,088 (GRCm39) E110G possibly damaging Het
Rnf168 A T 16: 32,117,287 (GRCm39) T283S possibly damaging Het
Ros1 T A 10: 51,977,857 (GRCm39) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,797,430 (GRCm39) Q223R probably null Het
Rtp4 G T 16: 23,431,679 (GRCm39) M70I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Sgo1 C T 17: 53,986,691 (GRCm39) D167N probably damaging Het
Slco1a8 T C 6: 141,936,147 (GRCm39) T313A probably benign Het
St6gal1 G T 16: 23,139,891 (GRCm39) A21S probably damaging Het
Stard9 C A 2: 120,530,300 (GRCm39) L2186I probably damaging Het
Sun2 T A 15: 79,611,810 (GRCm39) probably benign Het
Taf4 G A 2: 179,565,884 (GRCm39) T849M probably damaging Het
Taok2 G A 7: 126,465,583 (GRCm39) H404Y possibly damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm39) I72V probably damaging Het
Trav1 T A 14: 52,666,155 (GRCm39) S52T probably damaging Het
Trim30a C T 7: 104,078,559 (GRCm39) probably null Het
Tro T C X: 149,437,565 (GRCm39) N364S possibly damaging Het
Tshz3 A G 7: 36,469,534 (GRCm39) T508A probably damaging Het
Ttc21b A G 2: 66,053,908 (GRCm39) L757P probably damaging Het
Vmn1r218 C T 13: 23,321,225 (GRCm39) Q111* probably null Het
Vmn2r75 G A 7: 85,797,309 (GRCm39) Q835* probably null Het
Xcr1 T A 9: 123,684,940 (GRCm39) D274V possibly damaging Het
Ypel5 C T 17: 73,153,332 (GRCm39) T12I probably benign 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
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
R5529:F12 UTSW 13 55,569,872 (GRCm39) missense probably benign 0.04
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
Posted On 2013-01-08