Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02139:F5'

281456

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 #

IGL02139

Quality Score

Status

Chromosome

Chromosomal Location

163979407-164047846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164020243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 906 (D906G)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

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

AlphaFold

O88783

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086040
AA Change: D906G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: D906G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	A	4: 124,504,369 (GRCm39)	T61M	unknown	Het
Adam34l	T	A	8: 44,078,615 (GRCm39)	R536S	probably benign	Het
Ambn	T	C	5: 88,613,149 (GRCm39)	F217L	probably benign	Het
Cast	T	C	13: 74,876,484 (GRCm39)	D121G	possibly damaging	Het
Clmn	T	C	12: 104,747,358 (GRCm39)	I730V	probably benign	Het
Cryzl1	T	C	16: 91,509,139 (GRCm39)	K54R	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,290 (GRCm39)	S222P	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Fam193a	A	G	5: 34,602,081 (GRCm39)	T428A	probably benign	Het
Fbxw16	T	G	9: 109,265,754 (GRCm39)	D355A	probably benign	Het
Focad	T	C	4: 88,047,291 (GRCm39)		probably null	Het
Ftsj3	G	A	11: 106,145,489 (GRCm39)	P82S	possibly damaging	Het
Grwd1	A	T	7: 45,476,667 (GRCm39)	H307Q	probably damaging	Het
Hip1r	T	C	5: 124,134,307 (GRCm39)	F289S	probably damaging	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Lcn3	T	C	2: 25,656,646 (GRCm39)	F100S	possibly damaging	Het
Lmnb1	T	C	18: 56,882,871 (GRCm39)	F572S	probably benign	Het
Mrps17	T	A	5: 129,793,860 (GRCm39)	I18N	probably damaging	Het
Myo9a	G	A	9: 59,687,275 (GRCm39)	V127I	probably benign	Het
Or2l13b	T	C	16: 19,349,640 (GRCm39)	D10G	probably benign	Het
Or4c35	T	C	2: 89,808,773 (GRCm39)	V217A	possibly damaging	Het
Or5g23	T	A	2: 85,438,574 (GRCm39)	K227*	probably null	Het
Pcdhb21	A	G	18: 37,648,299 (GRCm39)	D476G	probably damaging	Het
Pkd2l2	T	A	18: 34,545,768 (GRCm39)	Y56*	probably null	Het
Pld1	C	A	3: 28,174,961 (GRCm39)	D86E	probably damaging	Het
Plpp1	A	G	13: 112,993,433 (GRCm39)	T122A	probably benign	Het
Prkag3	A	G	1: 74,779,883 (GRCm39)	I484T	probably benign	Het
Prl7d1	T	A	13: 27,896,066 (GRCm39)	I104F	probably damaging	Het
Prr14l	A	G	5: 32,984,876 (GRCm39)	S1540P	probably damaging	Het
Pyroxd1	T	G	6: 142,300,457 (GRCm39)	S196A	probably benign	Het
Rbm42	G	A	7: 30,345,130 (GRCm39)	P185S	unknown	Het
Ror2	T	A	13: 53,265,200 (GRCm39)	I619F	probably damaging	Het
Slitrk4	T	G	X: 63,314,555 (GRCm39)	E704A	probably benign	Het
Sycp1	A	G	3: 102,772,430 (GRCm39)	V626A	probably benign	Het
Trmt44	T	A	5: 35,726,143 (GRCm39)	K345*	probably null	Het
Ugt1a6b	T	A	1: 88,035,527 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,970,897 (GRCm39)		probably null	Het
Zfp618	G	T	4: 63,051,773 (GRCm39)	K758N	probably damaging	Het
Zfp819	G	T	7: 43,261,534 (GRCm39)		probably null	Het

Other mutations in F5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4365:F5	UTSW	1	164,012,519 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16