Incidental Mutation 'R3909:F11'
ID 309307
Institutional Source Beutler Lab
Gene Symbol F11
Ensembl Gene ENSMUSG00000031645
Gene Name coagulation factor XI
Synonyms plasma thromboplastin antecedent, 1600027G01Rik, Cf11, FXI
MMRRC Submission 040814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R3909 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45694211-45715068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45701675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 353 (S353P)
Ref Sequence ENSEMBL: ENSMUSP00000034064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034064]
AlphaFold Q91Y47
Predicted Effect probably damaging
Transcript: ENSMUST00000034064
AA Change: S353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: S353P

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
Meta Mutation Damage Score 0.5090 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Cngb3 G A 4: 19,461,679 (GRCm39) C520Y probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,806,802 (GRCm39) P71S possibly damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Hyls1 T C 9: 35,472,705 (GRCm39) D237G probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or4a78 T C 2: 89,497,357 (GRCm39) E291G probably damaging Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L 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
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'- CTCTCTATGGTTGTTGTAGACTAGCC -3'
(R):5'- AAGAGCTGGACATCGTCGATG -3'

Sequencing Primer
(F):5'- ACTAGCCTCGTGTAGTAGACTAGC -3'
(R):5'- CATCGTCGATGTGAAAGGCC -3'
Posted On 2015-04-17