Incidental Mutation 'R5369:F12'
ID 429567
Institutional Source Beutler Lab
Gene Symbol F12
Ensembl Gene ENSMUSG00000021492
Gene Name coagulation factor XII (Hageman factor)
Synonyms FXII
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55565771-55574606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55566304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 496 (E496G)
Ref Sequence ENSEMBL: ENSMUSP00000021948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000054146] [ENSMUST00000057167] [ENSMUST00000170921] [ENSMUST00000225259]
AlphaFold Q80YC5
Predicted Effect probably benign
Transcript: ENSMUST00000021948
AA Change: E496G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: E496G

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: ENSMUST00000054146
SMART Domains Protein: ENSMUSP00000054053
Gene: ENSMUSG00000044444

DomainStartEndE-ValueType
Pfam:Profilin 3 132 7.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057167
SMART Domains Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 113 256 7.4e-28 PFAM
Pfam:Na_Pi_cotrans 359 549 2.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170921
AA Change: E42G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492
AA Change: E42G

DomainStartEndE-ValueType
Tryp_SPc 2 137 3.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224043
Predicted Effect probably benign
Transcript: ENSMUST00000225259
Meta Mutation Damage Score 0.0920 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
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
Predicted Primers PCR Primer
(F):5'- TTATGCTTGACAGGCAGGGAC -3'
(R):5'- AGGTTCTGAGCCACTGTGTG -3'

Sequencing Primer
(F):5'- CTTGACAGGCAGGGACCAAGG -3'
(R):5'- GAAGTGCTTCCTGTGTTTTAAGCCC -3'
Posted On 2016-09-06