Incidental Mutation 'R4365:F5'
ID 325695
Institutional Source Beutler Lab
Gene Symbol F5
Ensembl Gene ENSMUSG00000026579
Gene Name coagulation factor V
Synonyms Cf-5, Cf5
MMRRC Submission 041113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4365 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 163979407-164047846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164012519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 478 (T478A)
Ref Sequence ENSEMBL: ENSMUSP00000083204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086040]
AlphaFold O88783
Predicted Effect probably damaging
Transcript: ENSMUST00000086040
AA Change: T478A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: T478A

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Cu-oxidase_3 67 196 4.4e-10 PFAM
low complexity region 282 300 N/A INTRINSIC
Pfam:Cu-oxidase_3 397 527 1.5e-7 PFAM
low complexity region 1013 1019 N/A INTRINSIC
low complexity region 1045 1058 N/A INTRINSIC
low complexity region 1156 1173 N/A INTRINSIC
low complexity region 1352 1366 N/A INTRINSIC
low complexity region 1368 1382 N/A INTRINSIC
low complexity region 1440 1464 N/A INTRINSIC
Pfam:Cu-oxidase_3 1600 1714 9.1e-8 PFAM
FA58C 1865 2020 8.03e-36 SMART
FA58C 2024 2180 1.96e-30 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycoprotein coagulation factor that plays a critical role in the process of blood coagulation and hemostasis. The encoded protein is activated by thrombin, to generate a heterodimer containing heavy and light chains held together by calcium ions. About half of the mice lacking the encoded protein die at an embryonic stage possible due to abnormal yolk-sac vasculature while the remaining animals succumbed to massive hemorrhage immediately after birth. A point mutation in this gene has been shown to cause disseminated intravascular thrombosis in the perinatal period, resulting in frequent deaths of newborn mice. [provided by RefSeq, Apr 2015]
PHENOTYPE: Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Btrc G A 19: 45,501,919 (GRCm39) D213N probably damaging Het
C4b T A 17: 34,953,717 (GRCm39) I964F possibly damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Ccdc153 G A 9: 44,154,889 (GRCm39) A71T probably damaging Het
Celsr3 C A 9: 108,707,046 (GRCm39) D1176E possibly damaging Het
Cfap46 A C 7: 139,230,868 (GRCm39) V920G probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Dnajb12 T C 10: 59,715,588 (GRCm39) F30S probably damaging Het
Emilin3 T C 2: 160,750,406 (GRCm39) R401G probably benign Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Il1rl2 G T 1: 40,390,951 (GRCm39) R298L probably benign Het
Lipo2 A T 19: 33,699,108 (GRCm39) S307R probably damaging Het
Lrit2 T A 14: 36,794,076 (GRCm39) L380Q probably damaging Het
Ncan A G 8: 70,567,861 (GRCm39) S84P probably damaging Het
Ncoa2 T C 1: 13,250,771 (GRCm39) I304V probably damaging Het
Nfe2l2 T C 2: 75,509,772 (GRCm39) D16G probably damaging Het
Nt5dc1 T C 10: 34,186,377 (GRCm39) D397G probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Or5p1 A T 7: 107,916,313 (GRCm39) I71F probably benign Het
Or5v1 T C 17: 37,810,270 (GRCm39) S243P probably damaging Het
Or6c212 A G 10: 129,559,281 (GRCm39) I44T probably damaging Het
Pcdh17 A G 14: 84,685,726 (GRCm39) E731G probably damaging Het
Rag1 T A 2: 101,473,288 (GRCm39) K618M probably damaging Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Rnf150 A G 8: 83,590,744 (GRCm39) K36E probably benign Het
S100a9 T C 3: 90,600,081 (GRCm39) H105R unknown Het
Spindoc T C 19: 7,351,219 (GRCm39) D246G possibly damaging Het
St8sia4 A T 1: 95,519,517 (GRCm39) Y324N possibly damaging Het
Tlr11 T A 14: 50,598,926 (GRCm39) I304N probably damaging Het
Trpm3 A G 19: 22,955,694 (GRCm39) T1090A probably benign Het
Ube4a T C 9: 44,871,379 (GRCm39) N7D probably damaging Het
Other mutations in F5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:F5 APN 1 164,007,093 (GRCm39) missense probably benign 0.15
IGL00843:F5 APN 1 164,039,360 (GRCm39) missense probably benign 0.00
IGL00904:F5 APN 1 164,021,578 (GRCm39) missense probably benign
IGL00913:F5 APN 1 164,032,465 (GRCm39) missense probably damaging 1.00
IGL01099:F5 APN 1 164,021,903 (GRCm39) missense probably damaging 0.99
IGL01134:F5 APN 1 164,019,548 (GRCm39) missense possibly damaging 0.87
IGL01313:F5 APN 1 164,021,181 (GRCm39) missense probably benign 0.01
IGL01635:F5 APN 1 164,035,427 (GRCm39) missense probably benign 0.00
IGL01697:F5 APN 1 164,021,621 (GRCm39) missense probably benign 0.04
IGL01768:F5 APN 1 164,003,914 (GRCm39) missense probably benign 0.22
IGL01795:F5 APN 1 164,021,959 (GRCm39) missense probably benign 0.00
IGL01835:F5 APN 1 164,021,937 (GRCm39) missense probably benign 0.12
IGL01843:F5 APN 1 164,039,395 (GRCm39) missense probably benign 0.05
IGL01989:F5 APN 1 164,003,876 (GRCm39) missense probably benign 0.39
IGL02036:F5 APN 1 164,010,571 (GRCm39) splice site probably benign
IGL02065:F5 APN 1 164,017,695 (GRCm39) missense probably damaging 1.00
IGL02077:F5 APN 1 164,026,435 (GRCm39) missense probably damaging 1.00
IGL02139:F5 APN 1 164,020,243 (GRCm39) missense possibly damaging 0.89
IGL02210:F5 APN 1 164,017,710 (GRCm39) missense probably benign 0.00
IGL02415:F5 APN 1 164,019,498 (GRCm39) missense probably damaging 1.00
IGL02440:F5 APN 1 164,034,635 (GRCm39) missense possibly damaging 0.79
IGL02471:F5 APN 1 164,001,860 (GRCm39) missense probably damaging 1.00
IGL02535:F5 APN 1 164,026,302 (GRCm39) missense probably damaging 0.98
IGL02537:F5 APN 1 164,020,686 (GRCm39) missense probably benign 0.26
IGL02628:F5 APN 1 164,021,644 (GRCm39) missense probably damaging 0.99
IGL02638:F5 APN 1 164,012,177 (GRCm39) critical splice donor site probably null
IGL02824:F5 APN 1 164,021,916 (GRCm39) missense probably benign 0.00
IGL02977:F5 APN 1 164,021,590 (GRCm39) missense probably damaging 1.00
IGL03028:F5 APN 1 164,020,569 (GRCm39) nonsense probably null
IGL03064:F5 APN 1 164,023,163 (GRCm39) missense probably benign 0.04
IGL03127:F5 APN 1 164,021,107 (GRCm39) missense probably benign 0.45
IGL03131:F5 APN 1 163,989,388 (GRCm39) missense possibly damaging 0.62
IGL03348:F5 APN 1 164,021,721 (GRCm39) missense possibly damaging 0.49
IGL03387:F5 APN 1 164,020,801 (GRCm39) missense probably damaging 1.00
James_dean UTSW 1 164,032,389 (GRCm39) missense probably benign 0.43
BB002:F5 UTSW 1 164,003,935 (GRCm39) critical splice donor site probably null
BB012:F5 UTSW 1 164,003,935 (GRCm39) critical splice donor site probably null
R0002:F5 UTSW 1 164,029,200 (GRCm39) missense probably damaging 1.00
R0095:F5 UTSW 1 164,019,537 (GRCm39) nonsense probably null
R0116:F5 UTSW 1 164,012,483 (GRCm39) missense probably benign 0.01
R0359:F5 UTSW 1 164,007,018 (GRCm39) missense probably damaging 1.00
R0426:F5 UTSW 1 164,010,409 (GRCm39) missense probably damaging 0.99
R0452:F5 UTSW 1 164,012,676 (GRCm39) missense probably damaging 0.99
R0457:F5 UTSW 1 164,021,769 (GRCm39) missense probably benign 0.00
R0520:F5 UTSW 1 164,037,156 (GRCm39) missense probably benign 0.15
R0522:F5 UTSW 1 164,039,332 (GRCm39) missense probably damaging 1.00
R0554:F5 UTSW 1 164,007,018 (GRCm39) missense probably damaging 1.00
R0575:F5 UTSW 1 164,003,813 (GRCm39) missense probably damaging 1.00
R0734:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R0739:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1062:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1063:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1149:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1149:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1150:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1151:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1152:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1221:F5 UTSW 1 163,989,368 (GRCm39) missense probably damaging 1.00
R1284:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1286:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1358:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1360:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1362:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1383:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1465:F5 UTSW 1 164,026,402 (GRCm39) missense probably benign 0.02
R1465:F5 UTSW 1 164,026,402 (GRCm39) missense probably benign 0.02
R1545:F5 UTSW 1 164,036,529 (GRCm39) nonsense probably null
R1561:F5 UTSW 1 164,014,472 (GRCm39) nonsense probably null
R1623:F5 UTSW 1 164,023,191 (GRCm39) missense probably damaging 1.00
R1662:F5 UTSW 1 164,035,457 (GRCm39) missense probably damaging 1.00
R1673:F5 UTSW 1 164,007,089 (GRCm39) missense probably damaging 1.00
R1689:F5 UTSW 1 164,026,486 (GRCm39) missense probably damaging 1.00
R1705:F5 UTSW 1 164,045,059 (GRCm39) missense possibly damaging 0.92
R1732:F5 UTSW 1 164,001,719 (GRCm39) missense probably damaging 1.00
R1763:F5 UTSW 1 164,020,104 (GRCm39) missense probably benign 0.04
R1774:F5 UTSW 1 164,020,104 (GRCm39) missense probably benign 0.04
R1799:F5 UTSW 1 164,021,100 (GRCm39) missense possibly damaging 0.58
R1800:F5 UTSW 1 164,010,403 (GRCm39) missense probably damaging 1.00
R1842:F5 UTSW 1 164,012,129 (GRCm39) missense probably damaging 0.99
R1915:F5 UTSW 1 164,010,486 (GRCm39) missense probably damaging 0.97
R1926:F5 UTSW 1 164,007,077 (GRCm39) missense probably damaging 1.00
R2025:F5 UTSW 1 164,037,044 (GRCm39) missense probably benign 0.05
R2198:F5 UTSW 1 164,034,603 (GRCm39) missense probably damaging 1.00
R2258:F5 UTSW 1 164,019,750 (GRCm39) missense probably damaging 1.00
R2264:F5 UTSW 1 164,021,971 (GRCm39) missense probably benign 0.32
R2281:F5 UTSW 1 164,023,289 (GRCm39) missense possibly damaging 0.80
R2407:F5 UTSW 1 164,039,441 (GRCm39) missense probably damaging 1.00
R2445:F5 UTSW 1 164,017,795 (GRCm39) missense probably damaging 1.00
R2860:F5 UTSW 1 164,012,533 (GRCm39) missense probably damaging 1.00
R2861:F5 UTSW 1 164,012,533 (GRCm39) missense probably damaging 1.00
R2862:F5 UTSW 1 164,012,533 (GRCm39) missense probably damaging 1.00
R2899:F5 UTSW 1 164,014,469 (GRCm39) missense possibly damaging 0.88
R2910:F5 UTSW 1 164,032,389 (GRCm39) missense probably benign 0.43
R2912:F5 UTSW 1 164,021,488 (GRCm39) missense probably damaging 0.98
R2996:F5 UTSW 1 164,010,486 (GRCm39) missense probably damaging 0.97
R3745:F5 UTSW 1 164,014,348 (GRCm39) missense possibly damaging 0.79
R3901:F5 UTSW 1 164,003,798 (GRCm39) missense probably benign 0.08
R3902:F5 UTSW 1 164,003,798 (GRCm39) missense probably benign 0.08
R4448:F5 UTSW 1 164,026,468 (GRCm39) missense possibly damaging 0.52
R4490:F5 UTSW 1 164,044,964 (GRCm39) missense probably benign 0.40
R4514:F5 UTSW 1 163,979,566 (GRCm39) unclassified probably benign
R4598:F5 UTSW 1 164,032,366 (GRCm39) missense probably benign 0.05
R4608:F5 UTSW 1 164,036,598 (GRCm39) missense probably benign 0.12
R4661:F5 UTSW 1 164,012,489 (GRCm39) missense probably damaging 1.00
R4667:F5 UTSW 1 164,001,755 (GRCm39) missense probably benign 0.00
R4689:F5 UTSW 1 163,979,542 (GRCm39) unclassified probably benign
R4716:F5 UTSW 1 164,021,488 (GRCm39) missense probably damaging 0.98
R4732:F5 UTSW 1 164,009,226 (GRCm39) missense probably damaging 1.00
R4733:F5 UTSW 1 164,009,226 (GRCm39) missense probably damaging 1.00
R4854:F5 UTSW 1 164,019,715 (GRCm39) missense probably damaging 1.00
R4908:F5 UTSW 1 164,039,389 (GRCm39) missense probably damaging 1.00
R4971:F5 UTSW 1 164,021,755 (GRCm39) missense probably benign
R5001:F5 UTSW 1 164,023,139 (GRCm39) missense probably benign 0.00
R5042:F5 UTSW 1 164,047,020 (GRCm39) missense probably damaging 1.00
R5056:F5 UTSW 1 164,019,601 (GRCm39) missense possibly damaging 0.60
R5061:F5 UTSW 1 164,021,749 (GRCm39) missense probably benign 0.00
R5143:F5 UTSW 1 164,039,397 (GRCm39) missense probably damaging 0.98
R5622:F5 UTSW 1 164,020,134 (GRCm39) missense probably benign 0.09
R5626:F5 UTSW 1 164,036,604 (GRCm39) missense probably damaging 0.98
R5658:F5 UTSW 1 164,019,907 (GRCm39) missense probably damaging 0.96
R5702:F5 UTSW 1 164,022,116 (GRCm39) nonsense probably null
R5795:F5 UTSW 1 163,979,578 (GRCm39) missense probably benign 0.09
R5884:F5 UTSW 1 164,023,215 (GRCm39) missense probably benign 0.01
R6036:F5 UTSW 1 164,012,565 (GRCm39) missense probably damaging 0.99
R6036:F5 UTSW 1 164,012,565 (GRCm39) missense probably damaging 0.99
R6151:F5 UTSW 1 164,017,756 (GRCm39) missense probably damaging 1.00
R6151:F5 UTSW 1 164,009,204 (GRCm39) missense probably damaging 1.00
R6345:F5 UTSW 1 164,019,520 (GRCm39) missense probably benign 0.13
R6391:F5 UTSW 1 164,021,062 (GRCm39) missense probably damaging 0.99
R6542:F5 UTSW 1 164,022,037 (GRCm39) missense probably benign 0.32
R6620:F5 UTSW 1 164,014,375 (GRCm39) missense probably damaging 1.00
R6750:F5 UTSW 1 164,021,076 (GRCm39) missense possibly damaging 0.58
R6754:F5 UTSW 1 164,021,332 (GRCm39) missense probably damaging 1.00
R6774:F5 UTSW 1 164,014,447 (GRCm39) missense probably damaging 1.00
R6802:F5 UTSW 1 164,006,925 (GRCm39) missense probably damaging 0.98
R6810:F5 UTSW 1 164,014,471 (GRCm39) missense probably damaging 1.00
R6983:F5 UTSW 1 164,021,698 (GRCm39) missense probably damaging 1.00
R7000:F5 UTSW 1 164,007,075 (GRCm39) missense probably damaging 1.00
R7151:F5 UTSW 1 164,029,230 (GRCm39) missense probably damaging 1.00
R7193:F5 UTSW 1 164,046,966 (GRCm39) missense probably damaging 1.00
R7230:F5 UTSW 1 164,012,522 (GRCm39) missense probably benign
R7324:F5 UTSW 1 164,021,150 (GRCm39) small deletion probably benign
R7350:F5 UTSW 1 164,020,277 (GRCm39) missense probably benign 0.08
R7466:F5 UTSW 1 164,020,897 (GRCm39) missense possibly damaging 0.61
R7503:F5 UTSW 1 164,019,779 (GRCm39) missense probably damaging 1.00
R7626:F5 UTSW 1 164,014,481 (GRCm39) missense possibly damaging 0.95
R7742:F5 UTSW 1 164,035,453 (GRCm39) missense possibly damaging 0.51
R7837:F5 UTSW 1 164,014,363 (GRCm39) missense probably damaging 1.00
R7848:F5 UTSW 1 163,989,446 (GRCm39) missense possibly damaging 0.94
R7925:F5 UTSW 1 164,003,935 (GRCm39) critical splice donor site probably null
R8053:F5 UTSW 1 164,020,338 (GRCm39) missense probably benign 0.26
R8094:F5 UTSW 1 164,036,509 (GRCm39) missense probably benign 0.06
R8175:F5 UTSW 1 164,019,834 (GRCm39) nonsense probably null
R8209:F5 UTSW 1 164,021,959 (GRCm39) missense probably benign 0.00
R8226:F5 UTSW 1 164,021,959 (GRCm39) missense probably benign 0.00
R8266:F5 UTSW 1 164,012,693 (GRCm39) critical splice donor site probably null
R8517:F5 UTSW 1 164,003,822 (GRCm39) missense probably damaging 0.99
R8684:F5 UTSW 1 164,045,111 (GRCm39) missense probably benign 0.01
R8941:F5 UTSW 1 164,026,440 (GRCm39) missense probably benign 0.19
R9130:F5 UTSW 1 164,001,830 (GRCm39) missense probably benign 0.37
R9181:F5 UTSW 1 164,019,895 (GRCm39) missense probably benign 0.00
R9186:F5 UTSW 1 164,021,470 (GRCm39) missense probably benign
R9233:F5 UTSW 1 164,047,020 (GRCm39) missense probably damaging 1.00
R9314:F5 UTSW 1 164,029,146 (GRCm39) missense probably benign 0.01
R9631:F5 UTSW 1 164,014,423 (GRCm39) missense probably damaging 1.00
R9655:F5 UTSW 1 164,021,730 (GRCm39) missense probably benign 0.15
X0024:F5 UTSW 1 164,020,557 (GRCm39) missense probably damaging 1.00
Z1088:F5 UTSW 1 163,981,954 (GRCm39) missense probably benign 0.04
Z1176:F5 UTSW 1 164,012,085 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTCATTGGCGCCATCTAGTG -3'
(R):5'- TATAAAATACCTGTACACCCCTCTGG -3'

Sequencing Primer
(F):5'- CATCTAGTGGACAGATATTGAACAGC -3'
(R):5'- GTCCAGGGACCTGCTCTTAC -3'
Posted On 2015-07-06