Incidental Mutation 'R4467:F11'
ID 329242
Institutional Source Beutler Lab
Gene Symbol F11
Ensembl Gene ENSMUSG00000031645
Gene Name coagulation factor XI
Synonyms plasma thromboplastin antecedent, 1600027G01Rik, Cf11, FXI
MMRRC Submission 041724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45694211-45715068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45694511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 617 (I617F)
Ref Sequence ENSEMBL: ENSMUSP00000034064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034064]
AlphaFold Q91Y47
Predicted Effect probably damaging
Transcript: ENSMUST00000034064
AA Change: I617F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: I617F

DomainStartEndE-ValueType
APPLE 20 103 2.89e-29 SMART
APPLE 110 193 1.02e-29 SMART
APPLE 200 283 2.29e-32 SMART
APPLE 291 376 1.04e-30 SMART
Tryp_SPc 389 617 1.54e-98 SMART
Meta Mutation Damage Score 0.8094 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that can be activated by coagulation factor XIIa, thrombin or factor XIa to generate active factor XIa protease. Mice lacking the encoded protein display a survival advantage during peritoneal sepsis and resist inflammation and bacterial accumulation upon infection with Listeria. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show a tendency for slightly prolonged tail transection bleeding times and are protected from vessel-occluding fibrin formation after transient ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Atg4a-ps A G 3: 103,553,171 (GRCm39) Y57H probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 G A 6: 118,360,808 (GRCm39) T1220I probably damaging Het
Brat1 T C 5: 140,690,826 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,366 (GRCm39) Y39* probably null Het
Chrnd T A 1: 87,125,099 (GRCm39) L384Q probably damaging Het
Cpa3 A T 3: 20,282,981 (GRCm39) Y155* probably null Het
Crlf1 G A 8: 70,953,606 (GRCm39) W260* probably null Het
Cux1 C G 5: 136,341,576 (GRCm39) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dmtf1 T C 5: 9,186,085 (GRCm39) N167S probably damaging Het
Dnaaf9 A G 2: 130,609,567 (GRCm39) I372T probably damaging Het
Dnai7 A T 6: 145,128,944 (GRCm39) probably null Het
Dtx2 T A 5: 136,040,930 (GRCm39) W112R probably damaging Het
Elf3 A G 1: 135,184,582 (GRCm39) I138T probably damaging Het
Fdps A T 3: 89,008,093 (GRCm39) D8E possibly damaging Het
Fzd10 C A 5: 128,678,340 (GRCm39) T20K probably benign Het
Gm9978 T A 10: 78,322,750 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Has1 C T 17: 18,064,257 (GRCm39) V461M probably benign Het
Hdac3 C T 18: 38,085,566 (GRCm39) G80D probably benign Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lamp5 A G 2: 135,900,940 (GRCm39) I47V probably damaging Het
Or6c1b T C 10: 129,272,933 (GRCm39) I84T probably benign Het
Ovgp1 A G 3: 105,885,027 (GRCm39) D122G probably benign Het
Piezo1 T C 8: 123,213,135 (GRCm39) E1875G probably benign Het
Pih1d1 A G 7: 44,807,921 (GRCm39) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm39) A241T probably benign Het
Prkce A G 17: 86,927,339 (GRCm39) I538V possibly damaging Het
Rab36 C T 10: 74,887,875 (GRCm39) R249* probably null Het
Rps6kl1 C T 12: 85,194,582 (GRCm39) A110T probably damaging Het
Rsad1 T C 11: 94,435,356 (GRCm39) T244A probably benign Het
Slc22a7 T C 17: 46,743,436 (GRCm39) I532V probably benign Het
Slc2a7 T C 4: 150,247,731 (GRCm39) V377A possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stat6 T G 10: 127,487,097 (GRCm39) I201M probably damaging Het
Stim2 T C 5: 54,273,536 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,937,107 (GRCm39) Y63C probably damaging Het
Tctn2 T C 5: 124,758,252 (GRCm39) noncoding transcript Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ubr5 T A 15: 38,004,580 (GRCm39) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm39) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm39) V557A possibly damaging Het
Vmn1r54 T C 6: 90,246,253 (GRCm39) S56P probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Other mutations in F11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:F11 APN 8 45,703,132 (GRCm39) missense probably damaging 1.00
IGL02096:F11 APN 8 45,699,791 (GRCm39) missense probably benign 0.05
IGL02363:F11 APN 8 45,694,568 (GRCm39) missense probably damaging 1.00
IGL02694:F11 APN 8 45,705,196 (GRCm39) missense probably damaging 1.00
IGL03374:F11 APN 8 45,714,111 (GRCm39) missense possibly damaging 0.63
R0225:F11 UTSW 8 45,702,114 (GRCm39) missense probably benign 0.00
R0525:F11 UTSW 8 45,706,086 (GRCm39) missense probably benign 0.01
R0842:F11 UTSW 8 45,705,196 (GRCm39) missense probably damaging 1.00
R0961:F11 UTSW 8 45,694,531 (GRCm39) missense probably damaging 1.00
R1605:F11 UTSW 8 45,694,617 (GRCm39) missense probably damaging 1.00
R2044:F11 UTSW 8 45,705,155 (GRCm39) missense probably benign 0.03
R2113:F11 UTSW 8 45,699,869 (GRCm39) missense probably benign 0.00
R2273:F11 UTSW 8 45,705,184 (GRCm39) missense possibly damaging 0.94
R2274:F11 UTSW 8 45,705,184 (GRCm39) missense possibly damaging 0.94
R2275:F11 UTSW 8 45,705,184 (GRCm39) missense possibly damaging 0.94
R2318:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2319:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2403:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2510:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2512:F11 UTSW 8 45,714,098 (GRCm39) missense probably benign 0.01
R2893:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2894:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R2910:F11 UTSW 8 45,694,486 (GRCm39) makesense probably null
R3030:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R3105:F11 UTSW 8 45,698,754 (GRCm39) missense probably damaging 0.97
R3721:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R3726:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R3906:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R3909:F11 UTSW 8 45,701,675 (GRCm39) missense probably damaging 1.00
R4465:F11 UTSW 8 45,694,511 (GRCm39) missense probably damaging 1.00
R4710:F11 UTSW 8 45,703,183 (GRCm39) missense probably damaging 1.00
R4824:F11 UTSW 8 45,708,379 (GRCm39) missense probably damaging 0.99
R4968:F11 UTSW 8 45,698,770 (GRCm39) missense probably benign 0.19
R5225:F11 UTSW 8 45,708,341 (GRCm39) missense probably benign 0.09
R5288:F11 UTSW 8 45,699,833 (GRCm39) missense probably damaging 1.00
R5378:F11 UTSW 8 45,705,180 (GRCm39) missense probably benign 0.19
R6155:F11 UTSW 8 45,705,119 (GRCm39) missense probably damaging 1.00
R6213:F11 UTSW 8 45,694,537 (GRCm39) missense probably damaging 1.00
R6615:F11 UTSW 8 45,701,811 (GRCm39) missense probably benign
R6797:F11 UTSW 8 45,706,092 (GRCm39) missense probably benign 0.02
R7147:F11 UTSW 8 45,703,183 (GRCm39) missense probably damaging 1.00
R7683:F11 UTSW 8 45,702,545 (GRCm39) missense probably damaging 0.97
R7688:F11 UTSW 8 45,703,127 (GRCm39) missense probably damaging 1.00
R7720:F11 UTSW 8 45,705,127 (GRCm39) missense possibly damaging 0.89
R8064:F11 UTSW 8 45,698,810 (GRCm39) missense probably benign 0.01
R8273:F11 UTSW 8 45,701,644 (GRCm39) missense possibly damaging 0.70
R8848:F11 UTSW 8 45,695,281 (GRCm39) nonsense probably null
R8901:F11 UTSW 8 45,701,851 (GRCm39) missense probably benign 0.01
R9141:F11 UTSW 8 45,703,092 (GRCm39) critical splice donor site probably null
R9188:F11 UTSW 8 45,698,736 (GRCm39) missense probably benign 0.00
R9658:F11 UTSW 8 45,698,671 (GRCm39) missense probably damaging 1.00
R9664:F11 UTSW 8 45,694,566 (GRCm39) nonsense probably null
U24488:F11 UTSW 8 45,695,349 (GRCm39) missense probably benign 0.04
Z1088:F11 UTSW 8 45,698,809 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CAGTGGTTCTCCCAGATCAG -3'
(R):5'- GAAATGCCTACCATGATCCCGG -3'

Sequencing Primer
(F):5'- AGTGGTTCTCCCAGATCAGGAATTC -3'
(R):5'- TACCATGATCCCGGCATGTG -3'
Posted On 2015-07-21