Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:F5'

373762

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164151838-164220277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164192146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 730 (A730V)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

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

AlphaFold

O88783

Predicted Effect

probably damaging
Transcript: ENSMUST00000086040
AA Change: A730V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: A730V

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

Meta Mutation Damage Score

0.1470

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,208,037		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abl1	T	C	2: 31,779,010	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,785,284	R73Q	probably damaging	Het
Agl	C	T	3: 116,778,618		probably null	Het
Amotl1	G	A	9: 14,593,451	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,853,202	K349E	possibly damaging	Het
Arhgap10	G	A	8: 77,420,089	Q229*	probably null	Het
Aspm	C	T	1: 139,478,072	Q1566*	probably null	Het
B3gnt3	G	A	8: 71,692,873	R284C	probably damaging	Het
Brd4	A	G	17: 32,220,237	V423A	probably damaging	Het
Btbd9	A	T	17: 30,524,865	I221N	probably damaging	Het
Camp	A	G	9: 109,847,451	V168A	probably benign	Het
Cd1d2	T	A	3: 86,989,249		probably null	Het
Cdkn2d	A	T	9: 21,290,927	V8D	probably benign	Het
Clec4g	T	C	8: 3,716,534	N256D	probably damaging	Het
Clspn	A	G	4: 126,575,950	I771V	probably benign	Het
Cntn6	A	G	6: 104,859,475	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,898,751	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,706,729		probably benign	Het
Dubr	T	C	16: 50,732,523		noncoding transcript	Het
Dusp26	G	A	8: 31,094,137	V91M	probably damaging	Het
Edc4	A	T	8: 105,887,925		probably benign	Het
Foxf1	A	G	8: 121,086,814	T358A	probably benign	Het
Frem1	A	T	4: 82,916,758	N1810K	possibly damaging	Het
Galc	A	T	12: 98,256,877	F87I	probably damaging	Het
Gars	A	G	6: 55,046,418	D66G	probably damaging	Het
Gbp11	G	A	5: 105,325,508	L460F	probably damaging	Het
Gdf7	T	C	12: 8,298,014	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,354,413		probably benign	Het
Gm12239	T	C	11: 56,015,953		noncoding transcript	Het
Gm5592	A	C	7: 41,217,471		probably benign	Het
Gp2	A	T	7: 119,452,199	D264E	possibly damaging	Het
Gphn	G	A	12: 78,627,210	V526M	probably damaging	Het
Grid1	A	G	14: 35,321,641	I318V	probably benign	Het
Grm2	C	A	9: 106,654,132	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,719,205	S632P	probably benign	Het
H2-M1	A	G	17: 36,670,058	F329L	probably benign	Het
Hecw1	T	A	13: 14,316,892	D92V	probably benign	Het
Hgh1	T	C	15: 76,369,182	L76P	probably damaging	Het
Idi2	C	A	13: 8,957,843	N63K	probably benign	Het
Ift122	A	G	6: 115,862,746	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,426,117	C575*	probably null	Het
Jup	A	G	11: 100,383,041	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,588,306	C244S	probably damaging	Het
Klhl2	T	A	8: 64,834,459	M46L	possibly damaging	Het
Ksr1	A	T	11: 79,027,702	I460N	probably damaging	Het
Lama3	T	A	18: 12,411,542	F314Y	probably benign	Het
Lbp	T	C	2: 158,327,518	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,200,489	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,111,077	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,568,735	D107Y	unknown	Het
Ms4a14	C	T	19: 11,310,369	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,662,051	E155K	probably benign	Het
Nbeal2	T	G	9: 110,631,396	H1790P	probably damaging	Het
Nsg2	G	A	11: 32,031,806	G84R	probably benign	Het
Odf3	A	G	7: 140,849,462	Y168C	probably damaging	Het
Olfr1145	A	G	2: 87,810,590	T257A	probably damaging	Het
Olfr286	A	C	15: 98,227,544	F34V	possibly damaging	Het
P2rx2	T	C	5: 110,340,927	N224D	probably damaging	Het
P2rx5	A	T	11: 73,171,779	E438V	probably benign	Het
Paip1	C	A	13: 119,449,889		probably benign	Het
Pik3c2g	T	A	6: 139,768,779	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,873,951	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,525,373	S4G	probably benign	Het
Ppp5c	T	C	7: 17,009,022	S224G	probably benign	Het
Prr30	T	G	14: 101,198,443	I228L	probably benign	Het
Purg	A	G	8: 33,387,314	I327V	possibly damaging	Het
Ralb	T	C	1: 119,475,915	T161A	probably benign	Het
Ripor3	T	C	2: 167,992,813	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,617,832		noncoding transcript	Het
Setd5	G	T	6: 113,151,399	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,813,723	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 125,473,601	T662K	probably damaging	Het
Skint5	A	G	4: 113,580,528	L1021S	unknown	Het
Slc22a23	T	C	13: 34,203,941	S391G	probably benign	Het
Slc4a5	G	A	6: 83,271,017	V402I	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Spink5	A	T	18: 44,020,841	*1018C	probably null	Het
Stag3	T	A	5: 138,296,694		probably null	Het
Tmem117	T	C	15: 95,094,688	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,366,562		probably benign	Het
Traf4	G	A	11: 78,161,520	Q100*	probably null	Het
Trpc4	A	G	3: 54,302,218	Y668C	probably damaging	Het
Ttn	T	A	2: 76,767,583	N11335I	possibly damaging	Het
Uhrf1bp1l	T	G	10: 89,794,484	V382G	probably damaging	Het
Usp39	A	T	6: 72,325,682	V463E	probably benign	Het
Vmn1r6	A	C	6: 57,002,698	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,380,301	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,638,431	I52T	possibly damaging	Het

Other mutations in F5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:F5	APN	1	164179524	missense	probably benign	0.15
IGL00843:F5	APN	1	164211791	missense	probably benign	0.00
IGL00904:F5	APN	1	164194009	missense	probably benign
IGL00913:F5	APN	1	164204896	missense	probably damaging	1.00
IGL01099:F5	APN	1	164194334	missense	probably damaging	0.99
IGL01134:F5	APN	1	164191979	missense	possibly damaging	0.87
IGL01313:F5	APN	1	164193612	missense	probably benign	0.01
IGL01635:F5	APN	1	164207858	missense	probably benign	0.00
IGL01697:F5	APN	1	164194052	missense	probably benign	0.04
IGL01768:F5	APN	1	164176345	missense	probably benign	0.22
IGL01795:F5	APN	1	164194390	missense	probably benign	0.00
IGL01835:F5	APN	1	164194368	missense	probably benign	0.12
IGL01843:F5	APN	1	164211826	missense	probably benign	0.05
IGL01989:F5	APN	1	164176307	missense	probably benign	0.39
IGL02036:F5	APN	1	164183002	splice site	probably benign
IGL02065:F5	APN	1	164190126	missense	probably damaging	1.00
IGL02077:F5	APN	1	164198866	missense	probably damaging	1.00
IGL02139:F5	APN	1	164192674	missense	possibly damaging	0.89
IGL02210:F5	APN	1	164190141	missense	probably benign	0.00
IGL02415:F5	APN	1	164191929	missense	probably damaging	1.00
IGL02440:F5	APN	1	164207066	missense	possibly damaging	0.79
IGL02471:F5	APN	1	164174291	missense	probably damaging	1.00
IGL02535:F5	APN	1	164198733	missense	probably damaging	0.98
IGL02537:F5	APN	1	164193117	missense	probably benign	0.26
IGL02628:F5	APN	1	164194075	missense	probably damaging	0.99
IGL02638:F5	APN	1	164184608	critical splice donor site	probably null
IGL02824:F5	APN	1	164194347	missense	probably benign	0.00
IGL02977:F5	APN	1	164194021	missense	probably damaging	1.00
IGL03028:F5	APN	1	164193000	nonsense	probably null
IGL03064:F5	APN	1	164195594	missense	probably benign	0.04
IGL03127:F5	APN	1	164193538	missense	probably benign	0.45
IGL03131:F5	APN	1	164161819	missense	possibly damaging	0.62
IGL03348:F5	APN	1	164194152	missense	possibly damaging	0.49
IGL03387:F5	APN	1	164193232	missense	probably damaging	1.00
James_dean	UTSW	1	164204820	missense	probably benign	0.43
BB002:F5	UTSW	1	164176366	critical splice donor site	probably null
BB012:F5	UTSW	1	164176366	critical splice donor site	probably null
R0002:F5	UTSW	1	164201631	missense	probably damaging	1.00
R0095:F5	UTSW	1	164191968	nonsense	probably null
R0116:F5	UTSW	1	164184914	missense	probably benign	0.01
R0359:F5	UTSW	1	164179449	missense	probably damaging	1.00
R0426:F5	UTSW	1	164182840	missense	probably damaging	0.99
R0452:F5	UTSW	1	164185107	missense	probably damaging	0.99
R0457:F5	UTSW	1	164194200	missense	probably benign	0.00
R0520:F5	UTSW	1	164209587	missense	probably benign	0.15
R0522:F5	UTSW	1	164211763	missense	probably damaging	1.00
R0554:F5	UTSW	1	164179449	missense	probably damaging	1.00
R0575:F5	UTSW	1	164176244	missense	probably damaging	1.00
R0734:F5	UTSW	1	164198917	missense	probably damaging	1.00
R0739:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1062:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1063:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1149:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1149:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1150:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1151:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1152:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1221:F5	UTSW	1	164161799	missense	probably damaging	1.00
R1284:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1286:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1358:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1360:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1362:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1383:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1465:F5	UTSW	1	164198833	missense	probably benign	0.02
R1465:F5	UTSW	1	164198833	missense	probably benign	0.02
R1545:F5	UTSW	1	164208960	nonsense	probably null
R1561:F5	UTSW	1	164186903	nonsense	probably null
R1623:F5	UTSW	1	164195622	missense	probably damaging	1.00
R1662:F5	UTSW	1	164207888	missense	probably damaging	1.00
R1673:F5	UTSW	1	164179520	missense	probably damaging	1.00
R1689:F5	UTSW	1	164198917	missense	probably damaging	1.00
R1705:F5	UTSW	1	164217490	missense	possibly damaging	0.92
R1732:F5	UTSW	1	164174150	missense	probably damaging	1.00
R1763:F5	UTSW	1	164192535	missense	probably benign	0.04
R1774:F5	UTSW	1	164192535	missense	probably benign	0.04
R1799:F5	UTSW	1	164193531	missense	possibly damaging	0.58
R1800:F5	UTSW	1	164182834	missense	probably damaging	1.00
R1842:F5	UTSW	1	164184560	missense	probably damaging	0.99
R1915:F5	UTSW	1	164182917	missense	probably damaging	0.97
R1926:F5	UTSW	1	164179508	missense	probably damaging	1.00
R2025:F5	UTSW	1	164209475	missense	probably benign	0.05
R2198:F5	UTSW	1	164207034	missense	probably damaging	1.00
R2258:F5	UTSW	1	164192181	missense	probably damaging	1.00
R2264:F5	UTSW	1	164194402	missense	probably benign	0.32
R2281:F5	UTSW	1	164195720	missense	possibly damaging	0.80
R2407:F5	UTSW	1	164211872	missense	probably damaging	1.00
R2445:F5	UTSW	1	164190226	missense	probably damaging	1.00
R2860:F5	UTSW	1	164184964	missense	probably damaging	1.00
R2861:F5	UTSW	1	164184964	missense	probably damaging	1.00
R2862:F5	UTSW	1	164184964	missense	probably damaging	1.00
R2899:F5	UTSW	1	164186900	missense	possibly damaging	0.88
R2910:F5	UTSW	1	164204820	missense	probably benign	0.43
R2912:F5	UTSW	1	164193919	missense	probably damaging	0.98
R2996:F5	UTSW	1	164182917	missense	probably damaging	0.97
R3745:F5	UTSW	1	164186779	missense	possibly damaging	0.79
R3901:F5	UTSW	1	164176229	missense	probably benign	0.08
R3902:F5	UTSW	1	164176229	missense	probably benign	0.08
R4365:F5	UTSW	1	164184950	missense	probably damaging	0.98
R4448:F5	UTSW	1	164198899	missense	possibly damaging	0.52
R4490:F5	UTSW	1	164217395	missense	probably benign	0.40
R4514:F5	UTSW	1	164151997	unclassified	probably benign
R4598:F5	UTSW	1	164204797	missense	probably benign	0.05
R4608:F5	UTSW	1	164209029	missense	probably benign	0.12
R4661:F5	UTSW	1	164184920	missense	probably damaging	1.00
R4667:F5	UTSW	1	164174186	missense	probably benign	0.00
R4689:F5	UTSW	1	164151973	unclassified	probably benign
R4716:F5	UTSW	1	164193919	missense	probably damaging	0.98
R4732:F5	UTSW	1	164181657	missense	probably damaging	1.00
R4733:F5	UTSW	1	164181657	missense	probably damaging	1.00
R4908:F5	UTSW	1	164211820	missense	probably damaging	1.00
R4971:F5	UTSW	1	164194186	missense	probably benign
R5001:F5	UTSW	1	164195570	missense	probably benign	0.00
R5042:F5	UTSW	1	164219451	missense	probably damaging	1.00
R5056:F5	UTSW	1	164192032	missense	possibly damaging	0.60
R5061:F5	UTSW	1	164194180	missense	probably benign	0.00
R5143:F5	UTSW	1	164211828	missense	probably damaging	0.98
R5622:F5	UTSW	1	164192565	missense	probably benign	0.09
R5626:F5	UTSW	1	164209035	missense	probably damaging	0.98
R5658:F5	UTSW	1	164192338	missense	probably damaging	0.96
R5702:F5	UTSW	1	164194547	nonsense	probably null
R5795:F5	UTSW	1	164152009	missense	probably benign	0.09
R5884:F5	UTSW	1	164195646	missense	probably benign	0.01
R6036:F5	UTSW	1	164184996	missense	probably damaging	0.99
R6036:F5	UTSW	1	164184996	missense	probably damaging	0.99
R6151:F5	UTSW	1	164181635	missense	probably damaging	1.00
R6151:F5	UTSW	1	164190187	missense	probably damaging	1.00
R6345:F5	UTSW	1	164191951	missense	probably benign	0.13
R6391:F5	UTSW	1	164193493	missense	probably damaging	0.99
R6542:F5	UTSW	1	164194468	missense	probably benign	0.32
R6620:F5	UTSW	1	164186806	missense	probably damaging	1.00
R6750:F5	UTSW	1	164193507	missense	possibly damaging	0.58
R6754:F5	UTSW	1	164193763	missense	probably damaging	1.00
R6774:F5	UTSW	1	164186878	missense	probably damaging	1.00
R6802:F5	UTSW	1	164179356	missense	probably damaging	0.98
R6810:F5	UTSW	1	164186902	missense	probably damaging	1.00
R6983:F5	UTSW	1	164194129	missense	probably damaging	1.00
R7000:F5	UTSW	1	164179506	missense	probably damaging	1.00
R7151:F5	UTSW	1	164201661	missense	probably damaging	1.00
R7193:F5	UTSW	1	164219397	missense	probably damaging	1.00
R7230:F5	UTSW	1	164184953	missense	probably benign
R7324:F5	UTSW	1	164193581	small deletion	probably benign
R7350:F5	UTSW	1	164192708	missense	probably benign	0.08
R7466:F5	UTSW	1	164193328	missense	possibly damaging	0.61
R7503:F5	UTSW	1	164192210	missense	probably damaging	1.00
R7626:F5	UTSW	1	164186912	missense	possibly damaging	0.95
R7742:F5	UTSW	1	164207884	missense	possibly damaging	0.51
R7837:F5	UTSW	1	164186794	missense	probably damaging	1.00
R7848:F5	UTSW	1	164161877	missense	possibly damaging	0.94
R7925:F5	UTSW	1	164176366	critical splice donor site	probably null
R8053:F5	UTSW	1	164192769	missense	probably benign	0.26
R8094:F5	UTSW	1	164208940	missense	probably benign	0.06
R8175:F5	UTSW	1	164192265	nonsense	probably null
R8209:F5	UTSW	1	164194390	missense	probably benign	0.00
R8226:F5	UTSW	1	164194390	missense	probably benign	0.00
R8266:F5	UTSW	1	164185124	critical splice donor site	probably null
R8517:F5	UTSW	1	164176253	missense	probably damaging	0.99
R8684:F5	UTSW	1	164217542	missense	probably benign	0.01
R8941:F5	UTSW	1	164198871	missense	probably benign	0.19
R9130:F5	UTSW	1	164174261	missense	probably benign	0.37
R9181:F5	UTSW	1	164192326	missense	probably benign	0.00
R9186:F5	UTSW	1	164193901	missense	probably benign
R9233:F5	UTSW	1	164219451	missense	probably damaging	1.00
R9314:F5	UTSW	1	164201577	missense	probably benign	0.01
R9631:F5	UTSW	1	164186854	missense	probably damaging	1.00
R9655:F5	UTSW	1	164194161	missense	probably benign	0.15
X0024:F5	UTSW	1	164192988	missense	probably damaging	1.00
Z1088:F5	UTSW	1	164154385	missense	probably benign	0.04
Z1176:F5	UTSW	1	164184516	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTTGACCACCATGAATTCCAATC -3'
(R):5'- GCCAGGAAGTGTTCTTTGAAAGTC -3'

Sequencing Primer
(F):5'- CGCAGAAACCTAAGACTGAGATTC -3'
(R):5'- AAGTGTTCTTTGAAAGTCTTTGAGG -3'

Posted On

2016-03-01