Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:F7'

577809

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000031443

Gene Name

coagulation factor VII

Synonyms

FVII, Cf7

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13076034-13085809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13085215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 414 (H414Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033820 (fasta)

Gene Model

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

AlphaFold

P70375

Predicted Effect

probably benign
Transcript: ENSMUST00000033820
AA Change: H414Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: H414Y

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	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
R1587:F7	UTSW	8	13,084,783 (GRCm39)	missense	possibly damaging	0.95
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
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'- ACTCATGTCCATCGAGGTGC -3'
(R):5'- CAGGAAAGTCCATAGAACAGCTTC -3'

Sequencing Primer
(F):5'- TGATGACCCAGGACTGTCTG -3'
(R):5'- TAGAACAGCTTCACAGGCCGTAG -3'

Posted On

2019-10-07