Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:F5'

189544

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	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
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
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'- TATACTGGGGATGGCAGCCCTTTC -3'

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

Posted On

2014-05-14