Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:F5'

104293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

164151838-164220277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164194052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1365 (N1365K)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086040]

AlphaFold

O88783

Predicted Effect

probably benign
Transcript: ENSMUST00000086040
AA Change: N1365K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: N1365K

Domain	Start	End	E-Value	Type
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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156 (GRCm38)		probably benign	Het
Arid2	A	C	15: 96,361,572 (GRCm38)		probably null	Het
Cadm1	C	A	9: 47,850,324 (GRCm38)	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198 (GRCm38)	F33L	probably benign	Het
Edrf1	A	G	7: 133,643,730 (GRCm38)	H199R	probably benign	Het
Fam205c	T	A	4: 42,874,163 (GRCm38)	M2L	probably benign	Het
Gipc2	T	G	3: 152,137,608 (GRCm38)	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410 (GRCm38)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257 (GRCm38)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953 (GRCm38)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm38)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565 (GRCm38)	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893 (GRCm38)	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472 (GRCm38)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,976,493 (GRCm38)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,939,947 (GRCm38)	L1206Q	probably damaging	Het
Olfr1446	T	A	19: 12,890,467 (GRCm38)	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652 (GRCm38)	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502 (GRCm38)	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184 (GRCm38)	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579 (GRCm38)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464 (GRCm38)	E181G	probably benign	Het
Scaf11	A	C	15: 96,423,623 (GRCm38)		probably benign	Het
Skint7	T	A	4: 111,980,457 (GRCm38)		probably benign	Het
Sox14	T	C	9: 99,875,663 (GRCm38)	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969 (GRCm38)		probably benign	Het
Ttc37	C	T	13: 76,128,733 (GRCm38)	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729 (GRCm38)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689 (GRCm38)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419 (GRCm38)		probably benign	Het

Other mutations in F5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:F5	APN	1	164,179,524 (GRCm38)	missense	probably benign	0.15
IGL00843:F5	APN	1	164,211,791 (GRCm38)	missense	probably benign	0.00
IGL00904:F5	APN	1	164,194,009 (GRCm38)	missense	probably benign
IGL00913:F5	APN	1	164,204,896 (GRCm38)	missense	probably damaging	1.00
IGL01099:F5	APN	1	164,194,334 (GRCm38)	missense	probably damaging	0.99
IGL01134:F5	APN	1	164,191,979 (GRCm38)	missense	possibly damaging	0.87
IGL01313:F5	APN	1	164,193,612 (GRCm38)	missense	probably benign	0.01
IGL01635:F5	APN	1	164,207,858 (GRCm38)	missense	probably benign	0.00
IGL01768:F5	APN	1	164,176,345 (GRCm38)	missense	probably benign	0.22
IGL01795:F5	APN	1	164,194,390 (GRCm38)	missense	probably benign	0.00
IGL01835:F5	APN	1	164,194,368 (GRCm38)	missense	probably benign	0.12
IGL01843:F5	APN	1	164,211,826 (GRCm38)	missense	probably benign	0.05
IGL01989:F5	APN	1	164,176,307 (GRCm38)	missense	probably benign	0.39
IGL02036:F5	APN	1	164,183,002 (GRCm38)	splice site	probably benign
IGL02065:F5	APN	1	164,190,126 (GRCm38)	missense	probably damaging	1.00
IGL02077:F5	APN	1	164,198,866 (GRCm38)	missense	probably damaging	1.00
IGL02139:F5	APN	1	164,192,674 (GRCm38)	missense	possibly damaging	0.89
IGL02210:F5	APN	1	164,190,141 (GRCm38)	missense	probably benign	0.00
IGL02415:F5	APN	1	164,191,929 (GRCm38)	missense	probably damaging	1.00
IGL02440:F5	APN	1	164,207,066 (GRCm38)	missense	possibly damaging	0.79
IGL02471:F5	APN	1	164,174,291 (GRCm38)	missense	probably damaging	1.00
IGL02535:F5	APN	1	164,198,733 (GRCm38)	missense	probably damaging	0.98
IGL02537:F5	APN	1	164,193,117 (GRCm38)	missense	probably benign	0.26
IGL02628:F5	APN	1	164,194,075 (GRCm38)	missense	probably damaging	0.99
IGL02638:F5	APN	1	164,184,608 (GRCm38)	critical splice donor site	probably null
IGL02824:F5	APN	1	164,194,347 (GRCm38)	missense	probably benign	0.00
IGL02977:F5	APN	1	164,194,021 (GRCm38)	missense	probably damaging	1.00
IGL03028:F5	APN	1	164,193,000 (GRCm38)	nonsense	probably null
IGL03064:F5	APN	1	164,195,594 (GRCm38)	missense	probably benign	0.04
IGL03127:F5	APN	1	164,193,538 (GRCm38)	missense	probably benign	0.45
IGL03131:F5	APN	1	164,161,819 (GRCm38)	missense	possibly damaging	0.62
IGL03348:F5	APN	1	164,194,152 (GRCm38)	missense	possibly damaging	0.49
IGL03387:F5	APN	1	164,193,232 (GRCm38)	missense	probably damaging	1.00
James_dean	UTSW	1	164,204,820 (GRCm38)	missense	probably benign	0.43
BB002:F5	UTSW	1	164,176,366 (GRCm38)	critical splice donor site	probably null
BB012:F5	UTSW	1	164,176,366 (GRCm38)	critical splice donor site	probably null
R0002:F5	UTSW	1	164,201,631 (GRCm38)	missense	probably damaging	1.00
R0095:F5	UTSW	1	164,191,968 (GRCm38)	nonsense	probably null
R0116:F5	UTSW	1	164,184,914 (GRCm38)	missense	probably benign	0.01
R0359:F5	UTSW	1	164,179,449 (GRCm38)	missense	probably damaging	1.00
R0426:F5	UTSW	1	164,182,840 (GRCm38)	missense	probably damaging	0.99
R0452:F5	UTSW	1	164,185,107 (GRCm38)	missense	probably damaging	0.99
R0457:F5	UTSW	1	164,194,200 (GRCm38)	missense	probably benign	0.00
R0520:F5	UTSW	1	164,209,587 (GRCm38)	missense	probably benign	0.15
R0522:F5	UTSW	1	164,211,763 (GRCm38)	missense	probably damaging	1.00
R0554:F5	UTSW	1	164,179,449 (GRCm38)	missense	probably damaging	1.00
R0575:F5	UTSW	1	164,176,244 (GRCm38)	missense	probably damaging	1.00
R0734:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R0739:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1062:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1063:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1149:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1149:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1150:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1151:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1152:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1221:F5	UTSW	1	164,161,799 (GRCm38)	missense	probably damaging	1.00
R1284:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1286:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1358:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1360:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1362:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1383:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1465:F5	UTSW	1	164,198,833 (GRCm38)	missense	probably benign	0.02
R1465:F5	UTSW	1	164,198,833 (GRCm38)	missense	probably benign	0.02
R1545:F5	UTSW	1	164,208,960 (GRCm38)	nonsense	probably null
R1561:F5	UTSW	1	164,186,903 (GRCm38)	nonsense	probably null
R1623:F5	UTSW	1	164,195,622 (GRCm38)	missense	probably damaging	1.00
R1662:F5	UTSW	1	164,207,888 (GRCm38)	missense	probably damaging	1.00
R1673:F5	UTSW	1	164,179,520 (GRCm38)	missense	probably damaging	1.00
R1689:F5	UTSW	1	164,198,917 (GRCm38)	missense	probably damaging	1.00
R1705:F5	UTSW	1	164,217,490 (GRCm38)	missense	possibly damaging	0.92
R1732:F5	UTSW	1	164,174,150 (GRCm38)	missense	probably damaging	1.00
R1763:F5	UTSW	1	164,192,535 (GRCm38)	missense	probably benign	0.04
R1774:F5	UTSW	1	164,192,535 (GRCm38)	missense	probably benign	0.04
R1799:F5	UTSW	1	164,193,531 (GRCm38)	missense	possibly damaging	0.58
R1800:F5	UTSW	1	164,182,834 (GRCm38)	missense	probably damaging	1.00
R1842:F5	UTSW	1	164,184,560 (GRCm38)	missense	probably damaging	0.99
R1915:F5	UTSW	1	164,182,917 (GRCm38)	missense	probably damaging	0.97
R1926:F5	UTSW	1	164,179,508 (GRCm38)	missense	probably damaging	1.00
R2025:F5	UTSW	1	164,209,475 (GRCm38)	missense	probably benign	0.05
R2198:F5	UTSW	1	164,207,034 (GRCm38)	missense	probably damaging	1.00
R2258:F5	UTSW	1	164,192,181 (GRCm38)	missense	probably damaging	1.00
R2264:F5	UTSW	1	164,194,402 (GRCm38)	missense	probably benign	0.32
R2281:F5	UTSW	1	164,195,720 (GRCm38)	missense	possibly damaging	0.80
R2407:F5	UTSW	1	164,211,872 (GRCm38)	missense	probably damaging	1.00
R2445:F5	UTSW	1	164,190,226 (GRCm38)	missense	probably damaging	1.00
R2860:F5	UTSW	1	164,184,964 (GRCm38)	missense	probably damaging	1.00
R2861:F5	UTSW	1	164,184,964 (GRCm38)	missense	probably damaging	1.00
R2862:F5	UTSW	1	164,184,964 (GRCm38)	missense	probably damaging	1.00
R2899:F5	UTSW	1	164,186,900 (GRCm38)	missense	possibly damaging	0.88
R2910:F5	UTSW	1	164,204,820 (GRCm38)	missense	probably benign	0.43
R2912:F5	UTSW	1	164,193,919 (GRCm38)	missense	probably damaging	0.98
R2996:F5	UTSW	1	164,182,917 (GRCm38)	missense	probably damaging	0.97
R3745:F5	UTSW	1	164,186,779 (GRCm38)	missense	possibly damaging	0.79
R3901:F5	UTSW	1	164,176,229 (GRCm38)	missense	probably benign	0.08
R3902:F5	UTSW	1	164,176,229 (GRCm38)	missense	probably benign	0.08
R4365:F5	UTSW	1	164,184,950 (GRCm38)	missense	probably damaging	0.98
R4448:F5	UTSW	1	164,198,899 (GRCm38)	missense	possibly damaging	0.52
R4490:F5	UTSW	1	164,217,395 (GRCm38)	missense	probably benign	0.40
R4514:F5	UTSW	1	164,151,997 (GRCm38)	unclassified	probably benign
R4598:F5	UTSW	1	164,204,797 (GRCm38)	missense	probably benign	0.05
R4608:F5	UTSW	1	164,209,029 (GRCm38)	missense	probably benign	0.12
R4661:F5	UTSW	1	164,184,920 (GRCm38)	missense	probably damaging	1.00
R4667:F5	UTSW	1	164,174,186 (GRCm38)	missense	probably benign	0.00
R4689:F5	UTSW	1	164,151,973 (GRCm38)	unclassified	probably benign
R4716:F5	UTSW	1	164,193,919 (GRCm38)	missense	probably damaging	0.98
R4732:F5	UTSW	1	164,181,657 (GRCm38)	missense	probably damaging	1.00
R4733:F5	UTSW	1	164,181,657 (GRCm38)	missense	probably damaging	1.00
R4854:F5	UTSW	1	164,192,146 (GRCm38)	missense	probably damaging	1.00
R4908:F5	UTSW	1	164,211,820 (GRCm38)	missense	probably damaging	1.00
R4971:F5	UTSW	1	164,194,186 (GRCm38)	missense	probably benign
R5001:F5	UTSW	1	164,195,570 (GRCm38)	missense	probably benign	0.00
R5042:F5	UTSW	1	164,219,451 (GRCm38)	missense	probably damaging	1.00
R5056:F5	UTSW	1	164,192,032 (GRCm38)	missense	possibly damaging	0.60
R5061:F5	UTSW	1	164,194,180 (GRCm38)	missense	probably benign	0.00
R5143:F5	UTSW	1	164,211,828 (GRCm38)	missense	probably damaging	0.98
R5622:F5	UTSW	1	164,192,565 (GRCm38)	missense	probably benign	0.09
R5626:F5	UTSW	1	164,209,035 (GRCm38)	missense	probably damaging	0.98
R5658:F5	UTSW	1	164,192,338 (GRCm38)	missense	probably damaging	0.96
R5702:F5	UTSW	1	164,194,547 (GRCm38)	nonsense	probably null
R5795:F5	UTSW	1	164,152,009 (GRCm38)	missense	probably benign	0.09
R5884:F5	UTSW	1	164,195,646 (GRCm38)	missense	probably benign	0.01
R6036:F5	UTSW	1	164,184,996 (GRCm38)	missense	probably damaging	0.99
R6036:F5	UTSW	1	164,184,996 (GRCm38)	missense	probably damaging	0.99
R6151:F5	UTSW	1	164,190,187 (GRCm38)	missense	probably damaging	1.00
R6151:F5	UTSW	1	164,181,635 (GRCm38)	missense	probably damaging	1.00
R6345:F5	UTSW	1	164,191,951 (GRCm38)	missense	probably benign	0.13
R6391:F5	UTSW	1	164,193,493 (GRCm38)	missense	probably damaging	0.99
R6542:F5	UTSW	1	164,194,468 (GRCm38)	missense	probably benign	0.32
R6620:F5	UTSW	1	164,186,806 (GRCm38)	missense	probably damaging	1.00
R6750:F5	UTSW	1	164,193,507 (GRCm38)	missense	possibly damaging	0.58
R6754:F5	UTSW	1	164,193,763 (GRCm38)	missense	probably damaging	1.00
R6774:F5	UTSW	1	164,186,878 (GRCm38)	missense	probably damaging	1.00
R6802:F5	UTSW	1	164,179,356 (GRCm38)	missense	probably damaging	0.98
R6810:F5	UTSW	1	164,186,902 (GRCm38)	missense	probably damaging	1.00
R6983:F5	UTSW	1	164,194,129 (GRCm38)	missense	probably damaging	1.00
R7000:F5	UTSW	1	164,179,506 (GRCm38)	missense	probably damaging	1.00
R7151:F5	UTSW	1	164,201,661 (GRCm38)	missense	probably damaging	1.00
R7193:F5	UTSW	1	164,219,397 (GRCm38)	missense	probably damaging	1.00
R7230:F5	UTSW	1	164,184,953 (GRCm38)	missense	probably benign
R7324:F5	UTSW	1	164,193,581 (GRCm38)	small deletion	probably benign
R7350:F5	UTSW	1	164,192,708 (GRCm38)	missense	probably benign	0.08
R7466:F5	UTSW	1	164,193,328 (GRCm38)	missense	possibly damaging	0.61
R7503:F5	UTSW	1	164,192,210 (GRCm38)	missense	probably damaging	1.00
R7626:F5	UTSW	1	164,186,912 (GRCm38)	missense	possibly damaging	0.95
R7742:F5	UTSW	1	164,207,884 (GRCm38)	missense	possibly damaging	0.51
R7837:F5	UTSW	1	164,186,794 (GRCm38)	missense	probably damaging	1.00
R7848:F5	UTSW	1	164,161,877 (GRCm38)	missense	possibly damaging	0.94
R7925:F5	UTSW	1	164,176,366 (GRCm38)	critical splice donor site	probably null
R8053:F5	UTSW	1	164,192,769 (GRCm38)	missense	probably benign	0.26
R8094:F5	UTSW	1	164,208,940 (GRCm38)	missense	probably benign	0.06
R8175:F5	UTSW	1	164,192,265 (GRCm38)	nonsense	probably null
R8209:F5	UTSW	1	164,194,390 (GRCm38)	missense	probably benign	0.00
R8226:F5	UTSW	1	164,194,390 (GRCm38)	missense	probably benign	0.00
R8266:F5	UTSW	1	164,185,124 (GRCm38)	critical splice donor site	probably null
R8517:F5	UTSW	1	164,176,253 (GRCm38)	missense	probably damaging	0.99
R8684:F5	UTSW	1	164,217,542 (GRCm38)	missense	probably benign	0.01
R8941:F5	UTSW	1	164,198,871 (GRCm38)	missense	probably benign	0.19
R9130:F5	UTSW	1	164,174,261 (GRCm38)	missense	probably benign	0.37
R9181:F5	UTSW	1	164,192,326 (GRCm38)	missense	probably benign	0.00
R9186:F5	UTSW	1	164,193,901 (GRCm38)	missense	probably benign
R9233:F5	UTSW	1	164,219,451 (GRCm38)	missense	probably damaging	1.00
R9314:F5	UTSW	1	164,201,577 (GRCm38)	missense	probably benign	0.01
R9631:F5	UTSW	1	164,186,854 (GRCm38)	missense	probably damaging	1.00
R9655:F5	UTSW	1	164,194,161 (GRCm38)	missense	probably benign	0.15
X0024:F5	UTSW	1	164,192,988 (GRCm38)	missense	probably damaging	1.00
Z1088:F5	UTSW	1	164,154,385 (GRCm38)	missense	probably benign	0.04
Z1176:F5	UTSW	1	164,184,516 (GRCm38)	missense	probably damaging	0.97

Posted On

2014-01-21