Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:F5'

68125

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0734 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

164151838-164220277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 164198917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 1686 (R1686P)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

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

AlphaFold

O88783

Predicted Effect

probably damaging
Transcript: ENSMUST00000086040
AA Change: R1686P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: R1686P

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

0.3930

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,850,334	S530T	probably benign	Het
Acer2	G	T	4: 86,917,559	K223N	probably benign	Het
Adam19	T	G	11: 46,127,403	C431G	probably damaging	Het
Adamts16	T	G	13: 70,738,481		probably benign	Het
Aox2	A	T	1: 58,305,341	E531V	probably benign	Het
Apaf1	A	T	10: 91,037,021	N720K	probably benign	Het
Atrnl1	T	A	19: 57,654,861	W394R	probably damaging	Het
Bcl6	T	C	16: 23,968,139	E634G	probably damaging	Het
Cfap65	T	A	1: 74,918,887	Y954F	probably damaging	Het
Cobl	A	G	11: 12,375,971	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,041	P210S	probably damaging	Het
Crb1	C	T	1: 139,337,084	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,523,844		probably benign	Het
Dhrs3	C	G	4: 144,927,176	S289W	probably damaging	Het
Dido1	T	G	2: 180,660,042	Q2023P	probably benign	Het
Dlg4	G	A	11: 70,042,705	G550R	probably damaging	Het
Dnah12	C	A	14: 26,800,013	H1928N	probably benign	Het
Dthd1	A	C	5: 62,839,410		probably benign	Het
Erg	C	A	16: 95,370,025	G269C	possibly damaging	Het
Erich6	G	A	3: 58,629,388		probably benign	Het
Fancc	T	C	13: 63,331,842	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,231,179	K47*	probably null	Het
Flt4	A	G	11: 49,626,717	T289A	possibly damaging	Het
Gcnt2	T	A	13: 40,860,521	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,481,400	S437R	unknown	Het
Grin2a	T	A	16: 9,579,611	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,170,777	V439A	possibly damaging	Het
Hykk	A	T	9: 54,946,432	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,683,335	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,758,195	V110A	probably damaging	Het
Irak3	A	T	10: 120,145,637		probably benign	Het
Lamp5	T	A	2: 136,059,030	V50E	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrch3	C	T	16: 32,997,483	R570*	probably null	Het
Map1lc3a	T	C	2: 155,276,976	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,227,000	K655N	probably benign	Het
Mark2	A	G	19: 7,285,981		probably benign	Het
Mbtd1	G	A	11: 93,923,146	G205D	probably damaging	Het
Med13	T	C	11: 86,301,237	T861A	probably benign	Het
Meltf	T	A	16: 31,881,958	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,381,532	T617I	possibly damaging	Het
Muc13	G	A	16: 33,803,082	V249I	probably damaging	Het
Myo18a	C	A	11: 77,847,404	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,112,874		probably null	Het
Ncoa3	T	A	2: 166,069,191		probably benign	Het
Nf2	T	C	11: 4,820,409	T67A	probably benign	Het
Nin	A	G	12: 70,030,113	V1056A	probably benign	Het
Olfr1426	T	A	19: 12,088,119	R224S	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr59	A	T	11: 74,288,946	Q100L	probably damaging	Het
P3h1	T	C	4: 119,238,688	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,446,973	K79E	possibly damaging	Het
Pam	T	A	1: 97,864,362	R445*	probably null	Het
Pcdhb6	T	C	18: 37,335,334	I436T	probably damaging	Het
Piezo2	A	G	18: 63,041,723	Y1987H	probably damaging	Het
Plch2	G	A	4: 154,996,283	T477I	probably damaging	Het
Postn	G	A	3: 54,362,715	G72R	probably damaging	Het
Proca1	G	A	11: 78,201,802		probably benign	Het
Psip1	T	A	4: 83,463,588		probably benign	Het
Ptprd	G	A	4: 76,140,597	P153L	probably damaging	Het
Rgl1	T	C	1: 152,554,300	D242G	probably damaging	Het
Ric1	T	A	19: 29,594,818	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,627,444	C199S	probably damaging	Het
Sec24c	A	C	14: 20,693,745	D1006A	probably damaging	Het
Sec63	A	G	10: 42,796,208	T173A	probably benign	Het
Sfxn5	T	C	6: 85,267,865		probably benign	Het
Spam1	A	G	6: 24,796,949	I300V	probably benign	Het
Spem1	A	G	11: 69,821,271	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,748,123	R1959*	probably null	Het
Timeless	C	T	10: 128,250,060	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trim24	T	C	6: 37,919,465	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,710,193		probably benign	Het
Zbtb21	C	T	16: 97,952,627	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,064,899	T298A	probably 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
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
R4854:F5	UTSW	1	164192146	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'- TGCCTATCACAGCCTGTAGCATTG -3'
(R):5'- GGATGAACACTTTTCTCTGCGCCC -3'

Sequencing Primer
(F):5'- AATTTGGCATCCAGACCGTATTC -3'
(R):5'- acctggctgacctcaaac -3'

Posted On

2013-09-03