Mutagenetix > Incidental Mutation

Incidental Mutation 'R9130:F7'

693546

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000031443

Gene Name

coagulation factor VII

Synonyms

FVII, Cf7

MMRRC Submission

068928-MU

Accession Numbers

Essential gene?

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

Stock #

R9130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13076034-13085809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13085059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 362 (P362T)

Ref Sequence

ENSEMBL: ENSMUSP00000033820 (fasta)

Gene Model

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

AlphaFold

P70375

Predicted Effect

probably damaging
Transcript: ENSMUST00000033820
AA Change: P362T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443
AA Change: P362T

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

Meta Mutation Damage Score

0.1630

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (87/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,342,753 (GRCm39)	C585R	possibly damaging	Het
Acaca	T	C	11: 84,202,145 (GRCm39)	L1380S	probably damaging	Het
Aifm2	A	C	10: 61,563,505 (GRCm39)	Q125P	probably null	Het
Ak5	A	T	3: 152,178,569 (GRCm39)	L482*	probably null	Het
Aldh3a2	T	C	11: 61,139,758 (GRCm39)	Q458R	probably benign	Het
Ank2	G	A	3: 126,810,565 (GRCm39)	T524I		Het
Apoc3	A	T	9: 46,146,481 (GRCm39)	S25T	unknown	Het
Ash1l	A	T	3: 88,965,848 (GRCm39)	R2417*	probably null	Het
Bbs12	A	G	3: 37,373,205 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,919,146 (GRCm39)	I1992N		Het
Brd9	G	A	13: 74,092,906 (GRCm39)	V299M	probably damaging	Het
Brwd1	A	T	16: 95,866,130 (GRCm39)	N217K	probably damaging	Het
C3	T	C	17: 57,518,678 (GRCm39)	Y1235C	probably damaging	Het
Cacna1c	T	C	6: 118,590,907 (GRCm39)	Y1538C		Het
Ccdc172	T	A	19: 58,525,779 (GRCm39)	H212Q	possibly damaging	Het
Cdc6	A	G	11: 98,802,999 (GRCm39)	D313G	probably damaging	Het
Cyp2e1	T	C	7: 140,353,022 (GRCm39)	V353A	probably damaging	Het
Dlg2	G	T	7: 92,080,258 (GRCm39)	V711F	probably damaging	Het
Dmac2	T	C	7: 25,320,448 (GRCm39)	F49S	probably damaging	Het
Dnah7b	A	G	1: 46,173,674 (GRCm39)	K660E	probably benign	Het
Dusp8	A	T	7: 141,642,155 (GRCm39)	S106T	probably benign	Het
Dynll1	T	A	5: 115,438,604 (GRCm39)	I34F	probably benign	Het
Epb41l4b	A	G	4: 57,103,447 (GRCm39)	F130L	possibly damaging	Het
Erc2	T	C	14: 27,751,418 (GRCm39)	Y705H	probably benign	Het
Exosc8	T	A	3: 54,638,503 (GRCm39)	L160F	probably damaging	Het
F5	A	G	1: 164,001,830 (GRCm39)	T178A	probably benign	Het
Fkbp3	T	C	12: 65,112,567 (GRCm39)	K156E	possibly damaging	Het
Folh1	G	A	7: 86,368,913 (GRCm39)	T738I	probably benign	Het
Gatad2b	C	T	3: 90,255,936 (GRCm39)	A134V	probably benign	Het
Glud1	T	A	14: 34,057,349 (GRCm39)	W338R		Het
Gm21149	T	C	5: 15,680,261 (GRCm39)	K62E	possibly damaging	Het
Gm32742	A	G	9: 51,050,049 (GRCm39)	Y1517H	probably damaging	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Gse1	A	T	8: 121,295,052 (GRCm39)	E391V	unknown	Het
Gxylt2	C	T	6: 100,710,329 (GRCm39)	Q157*	probably null	Het
Hbq1b	C	T	11: 32,237,092 (GRCm39)	T27I	probably damaging	Het
Hoxd13	T	A	2: 74,499,382 (GRCm39)	D243E	probably benign	Het
Hsd3b3	T	A	3: 98,651,211 (GRCm39)	I80F	possibly damaging	Het
Hsf2bp	A	T	17: 32,230,082 (GRCm39)		probably benign	Het
Itch	G	A	2: 155,052,045 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,215,742 (GRCm39)	F76L	probably benign	Het
Kdm6b	T	C	11: 69,295,424 (GRCm39)	T948A	unknown	Het
Kmt2c	A	T	5: 25,516,102 (GRCm39)	H2580Q	probably benign	Het
Lrp1	T	C	10: 127,382,281 (GRCm39)	T3727A	probably benign	Het
Lrrc8a	A	G	2: 30,147,042 (GRCm39)	I619V	possibly damaging	Het
Mansc1	C	A	6: 134,586,951 (GRCm39)	G409W	probably damaging	Het
Map3k11	C	A	19: 5,746,038 (GRCm39)	L418I	possibly damaging	Het
Mettl4	T	A	17: 95,042,913 (GRCm39)	I308L	possibly damaging	Het
Myo9a	A	G	9: 59,739,514 (GRCm39)	D742G	probably damaging	Het
Mypn	T	C	10: 63,028,652 (GRCm39)	Q137R	probably benign	Het
Neurod4	A	T	10: 130,106,427 (GRCm39)	Y282*	probably null	Het
Nup210	A	G	6: 91,020,799 (GRCm39)	F965S	probably benign	Het
Oplah	T	C	15: 76,185,098 (GRCm39)	T872A	possibly damaging	Het
Or1ab2	G	T	8: 72,863,697 (GRCm39)	G96C	probably damaging	Het
Or4b12	A	G	2: 90,096,358 (GRCm39)	C139R	probably damaging	Het
Or5m8	T	G	2: 85,822,819 (GRCm39)	Y219*	probably null	Het
Or6c68	A	G	10: 129,157,897 (GRCm39)	N135S	probably benign	Het
Pkn2	A	T	3: 142,515,245 (GRCm39)	D696E	possibly damaging	Het
Pla2r1	A	T	2: 60,325,729 (GRCm39)		probably benign	Het
Plpp1	A	T	13: 112,988,038 (GRCm39)	I54L		Het
Ppp4r2	T	G	6: 100,842,113 (GRCm39)	N191K	probably damaging	Het
Ptpdc1	G	T	13: 48,739,655 (GRCm39)	P592Q	probably benign	Het
Qrich2	A	T	11: 116,347,692 (GRCm39)	L1044*	probably null	Het
Rb1cc1	A	G	1: 6,315,109 (GRCm39)	I421V	probably damaging	Het
Ripor3	A	T	2: 167,823,267 (GRCm39)	C881*	probably null	Het
Rreb1	T	C	13: 38,114,282 (GRCm39)	F547S	probably benign	Het
Scel	T	C	14: 103,770,746 (GRCm39)	V60A	probably benign	Het
Shank3	G	A	15: 89,442,419 (GRCm39)	A1771T	probably benign	Het
Slc6a20a	A	G	9: 123,469,631 (GRCm39)		probably null	Het
Slfn5	C	T	11: 82,851,446 (GRCm39)	T581I	probably damaging	Het
Ssh3	A	C	19: 4,314,113 (GRCm39)	V412G	probably damaging	Het
Stx17	T	G	4: 48,159,071 (GRCm39)		probably benign	Het
Sun3	T	G	11: 8,968,170 (GRCm39)	T274P	probably benign	Het
Tm9sf1	T	C	14: 55,875,464 (GRCm39)	T427A	probably damaging	Het
Tmem114	T	A	16: 8,229,983 (GRCm39)	I140F		Het
Tmem40	T	C	6: 115,710,980 (GRCm39)	R167G	possibly damaging	Het
Top3a	C	A	11: 60,641,401 (GRCm39)		probably null	Het
Trafd1	A	G	5: 121,516,573 (GRCm39)	V210A	probably benign	Het
Trim66	T	C	7: 109,076,896 (GRCm39)	I348V	possibly damaging	Het
Ttn	G	A	2: 76,679,172 (GRCm39)	A10850V	unknown	Het
Unc80	G	A	1: 66,677,244 (GRCm39)	A2058T	possibly damaging	Het
Upp2	T	C	2: 58,668,020 (GRCm39)	Y238H	probably damaging	Het
Vmn1r224	T	A	17: 20,640,242 (GRCm39)	I273N	probably damaging	Het
Vps13c	T	C	9: 67,836,805 (GRCm39)	S1768P	probably damaging	Het
Zfp26	G	A	9: 20,348,723 (GRCm39)	H614Y	probably damaging	Het
Zfp263	C	T	16: 3,567,701 (GRCm39)	T672I	probably benign	Het
Zfp641	T	A	15: 98,186,732 (GRCm39)	Q297L	probably benign	Het
Zfp944	T	C	17: 22,560,031 (GRCm39)	E25G	probably damaging	Het
Zfp994	T	C	17: 22,418,981 (GRCm39)	E656G	unknown	Het
Zfyve19	A	G	2: 119,045,330 (GRCm39)	D206G	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
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
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'- TGTGTCTGCCTGAAAAGTCC -3'
(R):5'- TTGGAGTCCATGTGTCTGAC -3'

Sequencing Primer
(F):5'- GCCTGAAAAGTCCTTCTCCGAG -3'
(R):5'- GACCAGCCAGTCTATGTACTG -3'

Posted On

2022-01-20