Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:F7'

177574

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000031443

Gene Name

coagulation factor VII

Synonyms

FVII, Cf7

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1587 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

13076034-13085809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13084783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 270 (I270F)

Ref Sequence

ENSEMBL: ENSMUSP00000033820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033820] [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]

AlphaFold

P70375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033820
AA Change: I270F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: I270F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033821

SMART Domains

Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
GLA	34	97	5.98e-32	SMART
EGF_CA	98	134	4.56e-9	SMART
EGF	140	177	2.66e-1	SMART
low complexity region	201	218	N/A	INTRINSIC
Tryp_SPc	243	471	9.03e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063820

SMART Domains

Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Tryp_SPc	231	459	9.03e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123768

SMART Domains

Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF	89	119	2.25e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128418

SMART Domains

Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Pfam:Trypsin	232	298	4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152034

SMART Domains

Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Pfam:Trypsin	232	297	1.1e-15	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,473,585 (GRCm39)	S111T	probably benign	Het
Abhd2	A	T	7: 79,003,758 (GRCm39)	H279L	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Agrn	T	C	4: 156,263,897 (GRCm39)	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,230,184 (GRCm39)	F1218I	probably damaging	Het
Bud13	C	T	9: 46,201,513 (GRCm39)	P395S	probably damaging	Het
Ccdc110	G	A	8: 46,394,783 (GRCm39)	V225M	probably benign	Het
Ccdc30	A	T	4: 119,210,373 (GRCm39)	S248T	probably damaging	Het
Cdh20	C	A	1: 110,027,757 (GRCm39)	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,929,145 (GRCm39)	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,645,334 (GRCm39)		probably null	Het
Cyp4a32	T	G	4: 115,467,731 (GRCm39)	N238K	probably benign	Het
Ddx11	T	C	17: 66,456,251 (GRCm39)	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,098,155 (GRCm39)	G412E	probably damaging	Het
Disp2	C	A	2: 118,622,064 (GRCm39)	A932D	probably damaging	Het
Dlg4	T	A	11: 69,922,572 (GRCm39)	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,492,556 (GRCm39)	I39T	probably damaging	Het
Elp1	G	A	4: 56,786,666 (GRCm39)	Q426*	probably null	Het
Eno3	T	C	11: 70,552,296 (GRCm39)	V316A	probably damaging	Het
Ep400	G	A	5: 110,874,768 (GRCm39)	T944I	probably benign	Het
Ezh2	T	G	6: 47,529,424 (GRCm39)		probably null	Het
Fancc	A	G	13: 63,488,246 (GRCm39)	F245L	probably benign	Het
Fzd7	G	A	1: 59,522,165 (GRCm39)	C16Y	possibly damaging	Het
Gm29394	A	G	15: 57,892,008 (GRCm39)	*200Q	probably null	Het
Ints8	A	G	4: 11,245,722 (GRCm39)		probably null	Het
Krt36	A	T	11: 99,993,128 (GRCm39)	I449N	probably damaging	Het
Ldlr	A	T	9: 21,649,209 (GRCm39)	H328L	probably damaging	Het
Limk2	T	C	11: 3,303,455 (GRCm39)	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,306,650 (GRCm39)	N321S	probably benign	Het
Mafk	T	C	5: 139,785,900 (GRCm39)	S33P	probably damaging	Het
Mbtps1	T	C	8: 120,244,958 (GRCm39)	Y831C	probably damaging	Het
Mfge8	T	A	7: 78,784,513 (GRCm39)	I344F	probably damaging	Het
Myo5b	T	C	18: 74,867,061 (GRCm39)	V1430A	probably benign	Het
Nbas	G	A	12: 13,608,686 (GRCm39)	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,502,959 (GRCm39)	R355H	probably damaging	Het
Noc4l	T	C	5: 110,800,889 (GRCm39)	T76A	probably benign	Het
Nrp1	T	A	8: 129,202,763 (GRCm39)	C583S	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or5d35	T	A	2: 87,855,477 (GRCm39)	M137K	probably damaging	Het
Pgm5	T	A	19: 24,793,113 (GRCm39)	I318F	probably damaging	Het
Phf1	T	A	17: 27,156,466 (GRCm39)	V536D	probably damaging	Het
Prpf4b	C	A	13: 35,076,133 (GRCm39)	A641D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,182,334 (GRCm39)	I433T	probably benign	Het
Resf1	G	T	6: 149,228,018 (GRCm39)	V355F	probably damaging	Het
S100a3	G	A	3: 90,509,618 (GRCm39)	E88K	probably benign	Het
Sesn1	A	G	10: 41,687,108 (GRCm39)	I31V	probably benign	Het
Son	T	A	16: 91,456,606 (GRCm39)	S1784R	probably damaging	Het
Srbd1	G	T	17: 86,292,865 (GRCm39)	D901E	probably damaging	Het
St8sia6	C	T	2: 13,677,416 (GRCm39)	D134N	possibly damaging	Het
Synpo2	T	A	3: 122,908,047 (GRCm39)	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,692,383 (GRCm39)	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,761,002 (GRCm39)	V785E	probably damaging	Het
Zfp143	A	G	7: 109,673,275 (GRCm39)	D124G	probably benign	Het
Zfp251	A	G	15: 76,754,484 (GRCm39)	L54P	probably damaging	Het
Zfp324	G	T	7: 12,704,570 (GRCm39)	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,553,559 (GRCm39)	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,195,437 (GRCm39)	Q261K	probably benign	Het
Zhx3	T	C	2: 160,623,613 (GRCm39)		probably null	Het

Other mutations in F7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:F7	APN	8	13,078,802 (GRCm39)	missense	probably benign	0.11
IGL01012:F7	APN	8	13,083,409 (GRCm39)	missense	probably damaging	0.99
IGL01461:F7	APN	8	13,082,245 (GRCm39)	missense	possibly damaging	0.94
IGL01700:F7	APN	8	13,078,685 (GRCm39)	missense	probably benign	0.02
IGL03105:F7	APN	8	13,084,001 (GRCm39)	missense	probably null	0.07
IGL03241:F7	APN	8	13,078,779 (GRCm39)	missense	probably damaging	1.00
BB008:F7	UTSW	8	13,085,209 (GRCm39)	missense	probably benign
BB018:F7	UTSW	8	13,085,209 (GRCm39)	missense	probably benign
R0746:F7	UTSW	8	13,084,740 (GRCm39)	missense	probably benign	0.02
R1661:F7	UTSW	8	13,085,209 (GRCm39)	missense	probably benign
R2065:F7	UTSW	8	13,085,183 (GRCm39)	missense	probably damaging	1.00
R2905:F7	UTSW	8	13,084,775 (GRCm39)	missense	probably benign	0.02
R4355:F7	UTSW	8	13,084,774 (GRCm39)	missense	probably benign
R5256:F7	UTSW	8	13,080,763 (GRCm39)	missense	probably damaging	1.00
R6115:F7	UTSW	8	13,083,958 (GRCm39)	missense	probably benign	0.01
R6330:F7	UTSW	8	13,085,140 (GRCm39)	missense	probably damaging	1.00
R7043:F7	UTSW	8	13,083,997 (GRCm39)	missense	probably benign
R7452:F7	UTSW	8	13,085,215 (GRCm39)	missense	probably benign	0.02
R7505:F7	UTSW	8	13,078,745 (GRCm39)	missense	possibly damaging	0.57
R7931:F7	UTSW	8	13,085,209 (GRCm39)	missense	probably benign
R8273:F7	UTSW	8	13,083,981 (GRCm39)	missense	probably benign
R8939:F7	UTSW	8	13,078,724 (GRCm39)	missense	probably damaging	1.00
R9028:F7	UTSW	8	13,076,087 (GRCm39)	missense	possibly damaging	0.96
R9130:F7	UTSW	8	13,085,059 (GRCm39)	missense	probably damaging	1.00
R9240:F7	UTSW	8	13,085,173 (GRCm39)	missense	probably damaging	1.00
R9325:F7	UTSW	8	13,083,430 (GRCm39)	missense	probably benign	0.00
R9572:F7	UTSW	8	13,083,953 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGACACCAGAGGCTGAACTGAC -3'
(R):5'- ACCTCGATGGACATGAGTTCCAGG -3'

Sequencing Primer
(F):5'- TCCACATACTCTAGGTTAGAGAAGC -3'
(R):5'- ACATGAGTTCCAGGGCTGTG -3'

Posted On

2014-04-24