Incidental Mutation 'R2274:F11'
ID 244974
Institutional Source Beutler Lab
Gene Symbol F11
Ensembl Gene ENSMUSG00000031645
Gene Name coagulation factor XI
Synonyms plasma thromboplastin antecedent, 1600027G01Rik, Cf11, FXI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R2274 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45694211-45715068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45705184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000034064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034064]
AlphaFold Q91Y47
Predicted Effect possibly damaging
Transcript: ENSMUST00000034064
AA Change: D119G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: D119G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210622
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Abcb10 G T 8: 124,709,491 (GRCm39) A21E probably benign Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Aqp4 A G 18: 15,526,537 (GRCm39) S315P probably benign Het
Atp7b T C 8: 22,510,848 (GRCm39) I433V probably benign Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Car5a C T 8: 122,671,408 (GRCm39) probably null Het
Cdk11b T A 4: 155,732,051 (GRCm39) probably benign Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Egr4 A T 6: 85,489,725 (GRCm39) F112I probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fat4 T A 3: 39,050,048 (GRCm39) V3970D possibly damaging Het
Fbxw5 C A 2: 25,394,773 (GRCm39) C222* probably null Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Ghr A G 15: 3,349,507 (GRCm39) V557A probably benign Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr155 A G 2: 73,178,479 (GRCm39) probably null Het
Gucy2f A T X: 140,899,269 (GRCm39) M697K probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Irf8 A G 8: 121,480,266 (GRCm39) E168G probably damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
L3hypdh T C 12: 72,131,632 (GRCm39) Y100C possibly damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mta1 C T 12: 113,091,770 (GRCm39) S291L probably damaging Het
Myh2 A G 11: 67,081,184 (GRCm39) K1267E possibly damaging Het
Nbea A T 3: 55,895,506 (GRCm39) probably null Het
Nexmif T G X: 103,131,452 (GRCm39) E155A possibly damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nxph1 G T 6: 9,247,746 (GRCm39) C239F probably damaging Het
Odc1 A G 12: 17,598,425 (GRCm39) I189V probably benign Het
Or1n1 A T 2: 36,750,113 (GRCm39) N82K probably damaging Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb15 T C 18: 37,608,496 (GRCm39) L576P probably damaging Het
Raph1 T C 1: 60,537,659 (GRCm39) D499G probably damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rtl1 T C 12: 109,561,101 (GRCm39) E246G unknown Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
St3gal6 T A 16: 58,309,332 (GRCm39) E34D possibly damaging Het
Tcstv3 C T 13: 120,779,190 (GRCm39) Q30* probably null Het
Tex16 T A X: 111,030,838 (GRCm39) D1112E probably damaging Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tmf1 T A 6: 97,140,547 (GRCm39) L776F probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn1r49 G A 6: 90,049,126 (GRCm39) T292I probably benign Het
Wdr19 T A 5: 65,398,334 (GRCm39) M853K possibly damaging Het
Zkscan8 C T 13: 21,705,966 (GRCm39) M265I 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
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
R4467: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'- CGGAACCAGCGGTTTTCTTTC -3'
(R):5'- GAATACCTCCTAGTGGAAGTGGG -3'

Sequencing Primer
(F):5'- CGGTTTTCTTTCCCTGGGCAG -3'
(R):5'- CCTCCTAGTGGAAGTGGGAATCAC -3'
Posted On 2014-10-30