Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:F2'

348760

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000027249

Gene Name

coagulation factor II

Synonyms

Cf-2, FII, prothrombin, Cf2, thrombin

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91455665-91466759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91461015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 239 (N239I)

Ref Sequence

ENSEMBL: ENSMUSP00000106967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028681] [ENSMUST00000111335]

AlphaFold

P19221

Predicted Effect

probably benign
Transcript: ENSMUST00000028681
AA Change: N240I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: N240I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GLA	25	89	1.91e-30	SMART
KR	107	189	7.47e-37	SMART
KR	213	295	5.09e-30	SMART
Tryp_SPc	360	610	9.99e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111335
AA Change: N239I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: N239I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GLA	25	89	1.91e-30	SMART
KR	107	189	8.01e-37	SMART
KR	212	294	5.09e-30	SMART
Tryp_SPc	359	609	9.99e-84	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153182

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent glycoprotein coagulation factor that plays an important role in the process of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that undergoes enzymatic cleavage by the coagulation factor Xa to form an active serine protease that converts soluble fibrinogen to insoluble fibrin clot. Most of the mice lacking the encoded protein die at an embryonic stage due to defects in yolk sac vasculature, while the rare nenonates succumb to hemorrhage on the first postnatal day. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	Het

Other mutations in F2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02334:F2	APN	2	91,463,439 (GRCm39)	missense	probably benign	0.16
IGL02390:F2	APN	2	91,463,332 (GRCm39)	missense	possibly damaging	0.81
IGL02859:F2	APN	2	91,456,087 (GRCm39)	missense	probably damaging	1.00
IGL02970:F2	APN	2	91,455,896 (GRCm39)	missense	possibly damaging	0.95
IGL03278:F2	APN	2	91,465,527 (GRCm39)	missense	probably benign	0.01
Sarode	UTSW	2	91,465,539 (GRCm39)	missense	probably benign	0.35
R0007:F2	UTSW	2	91,460,952 (GRCm39)	missense	probably benign	0.00
R0015:F2	UTSW	2	91,460,952 (GRCm39)	missense	probably benign	0.00
R0137:F2	UTSW	2	91,456,075 (GRCm39)	missense	probably damaging	1.00
R0211:F2	UTSW	2	91,460,503 (GRCm39)	missense	probably damaging	1.00
R0304:F2	UTSW	2	91,463,578 (GRCm39)	missense	probably damaging	0.99
R0601:F2	UTSW	2	91,463,656 (GRCm39)	splice site	probably null
R0830:F2	UTSW	2	91,460,545 (GRCm39)	missense	probably benign	0.34
R1693:F2	UTSW	2	91,459,524 (GRCm39)	missense	probably damaging	1.00
R1720:F2	UTSW	2	91,459,175 (GRCm39)	nonsense	probably null
R1763:F2	UTSW	2	91,465,251 (GRCm39)	missense	probably damaging	1.00
R1865:F2	UTSW	2	91,465,539 (GRCm39)	missense	probably benign	0.35
R1955:F2	UTSW	2	91,463,440 (GRCm39)	missense	probably benign	0.01
R2055:F2	UTSW	2	91,458,787 (GRCm39)	missense	probably benign	0.00
R2168:F2	UTSW	2	91,458,693 (GRCm39)	missense	probably damaging	0.98
R2230:F2	UTSW	2	91,456,102 (GRCm39)	missense	probably benign	0.01
R3916:F2	UTSW	2	91,455,833 (GRCm39)	missense	probably damaging	1.00
R4004:F2	UTSW	2	91,458,741 (GRCm39)	missense	possibly damaging	0.88
R4134:F2	UTSW	2	91,459,553 (GRCm39)	missense	possibly damaging	0.93
R4298:F2	UTSW	2	91,459,665 (GRCm39)	critical splice acceptor site	probably null
R4902:F2	UTSW	2	91,465,316 (GRCm39)	intron	probably benign
R5093:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5095:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5140:F2	UTSW	2	91,465,302 (GRCm39)	splice site	probably benign
R5229:F2	UTSW	2	91,460,586 (GRCm39)	nonsense	probably null
R5271:F2	UTSW	2	91,465,466 (GRCm39)	intron	probably benign
R5335:F2	UTSW	2	91,465,277 (GRCm39)	missense	possibly damaging	0.68
R7650:F2	UTSW	2	91,458,741 (GRCm39)	missense	possibly damaging	0.88
R7762:F2	UTSW	2	91,459,041 (GRCm39)	missense	possibly damaging	0.61
R8178:F2	UTSW	2	91,460,618 (GRCm39)	splice site	probably null
R8976:F2	UTSW	2	91,466,738 (GRCm39)	missense	probably benign
R9458:F2	UTSW	2	91,461,113 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTTAAGAGTCTAGGCACACC -3'
(R):5'- ATCCTTCTTCACCAGGCCAG -3'

Sequencing Primer
(F):5'- AGGCTGTAATGAACCCACTTG -3'
(R):5'- AGGAGGGCCGTACCACTG -3'

Posted On

2015-10-08