Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:F7'

104450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000031443

Gene Name

coagulation factor VII

Synonyms

FVII, Cf7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

13026034-13035809 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13028685 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 39 (Q39K)

Ref Sequence

ENSEMBL: ENSMUSP00000033820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033820]

Predicted Effect

probably benign
Transcript: ENSMUST00000033820
AA Change: Q39K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: Q39K

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
GLA	23	86	5.41e-30	SMART
EGF_CA	87	123	2.58e-8	SMART
EGF	131	169	1.99e0	SMART
Tryp_SPc	193	428	1.14e-87	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent serine protease that plays a critical role in the extrinsic pathway of blood coagulation. Upon contact with tissue factor III (TF III), the encoded protein forms an activated complex termed TF-FVIIa that initiates the coagulation cascade involving other coagulation factors, ultimately resulting in a fibrin clot. Complete lack of the encoded protein in mice results in in perinatal lethality due to bleeding from normal blood vessels. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation developed normally through embryogenesis, and exhibited no vascular defects; however, 70% of homozygous neonates suffered fatal intra-abdominal haemorrhaging and died within 24 hours after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in F7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:F7	APN	8	13028802	missense	probably benign	0.11
IGL01012:F7	APN	8	13033409	missense	probably damaging	0.99
IGL01461:F7	APN	8	13032245	missense	possibly damaging	0.94
IGL03105:F7	APN	8	13034001	missense	probably null	0.07
IGL03241:F7	APN	8	13028779	missense	probably damaging	1.00
BB008:F7	UTSW	8	13035209	missense	probably benign
BB018:F7	UTSW	8	13035209	missense	probably benign
R0746:F7	UTSW	8	13034740	missense	probably benign	0.02
R1587:F7	UTSW	8	13034783	missense	possibly damaging	0.95
R1661:F7	UTSW	8	13035209	missense	probably benign
R2065:F7	UTSW	8	13035183	missense	probably damaging	1.00
R2905:F7	UTSW	8	13034775	missense	probably benign	0.02
R4355:F7	UTSW	8	13034774	missense	probably benign
R5256:F7	UTSW	8	13030763	missense	probably damaging	1.00
R6115:F7	UTSW	8	13033958	missense	probably benign	0.01
R6330:F7	UTSW	8	13035140	missense	probably damaging	1.00
R7043:F7	UTSW	8	13033997	missense	probably benign
R7452:F7	UTSW	8	13035215	missense	probably benign	0.02
R7505:F7	UTSW	8	13028745	missense	possibly damaging	0.57
R7931:F7	UTSW	8	13035209	missense	probably benign
R8273:F7	UTSW	8	13033981	missense	probably benign

Posted On

2014-01-21