Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Fga'

655553

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83033316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 759 (E759G)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]

AlphaFold

E9PV24

Predicted Effect

probably benign
Transcript: ENSMUST00000029630

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
Fib_alpha	49	193	1.29e-69	SMART
low complexity region	264	286	N/A	INTRINSIC
low complexity region	311	340	N/A	INTRINSIC
Pfam:Fibrinogen_aC	392	458	1.6e-33	PFAM
low complexity region	500	522	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166581
AA Change: E759G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: E759G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
Fib_alpha	49	193	1.29e-69	SMART
low complexity region	264	286	N/A	INTRINSIC
low complexity region	311	340	N/A	INTRINSIC
Pfam:Fibrinogen_aC	392	457	9.3e-34	PFAM
low complexity region	500	522	N/A	INTRINSIC
FBG	550	786	1.43e-128	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded protein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mice lacking the encoded protein display bleeding in the peritoneal cavity, skin and soft tissues around joints immediately after birth, and are predisposed to spontaneous fatal abdominal hemorrhage as they grow. Pregnant mice lacking the encoded protein succumb to uterine bleeding during gestation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,942,972	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616		probably benign	Het
Ank1	G	A	8: 23,096,835	A498T	probably damaging	Het
Antxr1	T	A	6: 87,188,173	E427D	possibly damaging	Het
App	A	C	16: 85,082,816	V143G	unknown	Het
Bod1l	C	A	5: 41,819,055	E1639*	probably null	Het
C2cd2	T	C	16: 97,875,421	D122G		Het
Ccdc88b	G	T	19: 6,847,322	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,714,662	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,891,752	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,852,270	A106S	unknown	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chpf2	T	C	5: 24,588,297	L87P	probably damaging	Het
Col5a2	A	T	1: 45,442,784	I60N	unknown	Het
Cux1	T	A	5: 136,308,504	E718V	probably damaging	Het
Dchs2	A	T	3: 83,301,174	I1845L	probably benign	Het
Disp3	C	T	4: 148,241,570	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,721,134	S1685P	probably benign	Het
Etnppl	G	A	3: 130,629,473	V274I	possibly damaging	Het
Evc2	T	C	5: 37,383,142	S561P	probably damaging	Het
Gdpd5	T	C	7: 99,453,950	F372S	probably benign	Het
Gpr155	T	C	2: 73,343,462	T868A	probably damaging	Het
Herc1	A	G	9: 66,473,581	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,341,624		probably null	Het
Ibsp	A	T	5: 104,310,081	E161D	probably damaging	Het
Ighv8-4	A	G	12: 115,024,108	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,418,416		probably null	Het
Kcnc2	T	A	10: 112,455,632	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,322,332	I229T	probably damaging	Het
Lamb1	A	T	12: 31,329,361	L1791F	probably damaging	Het
Med6	A	T	12: 81,594,960	M1K	probably null	Het
Mei4	A	G	9: 81,979,238	D294G	probably benign	Het
Nat10	T	C	2: 103,732,237	I585V	probably benign	Het
Nid1	T	C	13: 13,476,174	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,100,776	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,257	A416T	probably benign	Het
Nsl1	G	C	1: 191,076,635	C173S	unknown	Het
Obsl1	G	A	1: 75,505,656	A190V	probably benign	Het
Olfr1047	A	G	2: 86,228,578	L131P	possibly damaging	Het
Olfr1085	T	C	2: 86,658,401	D19G	probably benign	Het
Olfr1151	A	T	2: 87,857,837	I221F	probably damaging	Het
Olfr1469	A	G	19: 13,411,240	T224A	possibly damaging	Het
Olfr535	G	A	7: 140,493,423	V262I	probably benign	Het
Olfr583	T	A	7: 103,051,502	M68K	probably damaging	Het
Osbpl1a	G	A	18: 12,768,586	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,446,397	R271*	probably null	Het
Paics	A	T	5: 76,964,590	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,738,684	D522G	probably damaging	Het
Pclo	T	A	5: 14,540,745	C1020S	unknown	Het
Pfkfb4	T	G	9: 109,005,599	D113E	possibly damaging	Het
Plod3	A	G	5: 136,988,976	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,158,264	M111K	probably damaging	Het
Pole2	A	C	12: 69,208,960	S344A	probably benign	Het
Pom121l2	A	G	13: 21,983,619	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181	S313P	probably damaging	Het
Rd3	T	G	1: 191,983,267	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,928,356	V235I	probably benign	Het
Senp5	T	C	16: 31,968,901	I635V	probably damaging	Het
Stox2	T	C	8: 47,192,073	E784G	possibly damaging	Het
Syce2	A	T	8: 84,887,166	D168V	probably benign	Het
Taar6	A	G	10: 23,985,631	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,148,958	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,545,401	I371N	probably damaging	Het
Trim31	A	T	17: 36,907,258		probably null	Het
Usp48	A	G	4: 137,610,718	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,059,404	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,584,365	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,745	D515E	probably benign	Het
Yeats2	T	G	16: 20,152,934	I42M	probably damaging	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	83031674	missense	probably damaging	1.00
IGL00478:Fga	APN	3	83028644	missense	probably benign	0.00
IGL00587:Fga	APN	3	83030289	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	83031245	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	83030211	missense	probably damaging	0.99
IGL01369:Fga	APN	3	83030200	missense	probably benign	0.00
IGL01409:Fga	APN	3	83032752	missense	probably damaging	1.00
IGL01541:Fga	APN	3	83032707	missense	probably damaging	1.00
IGL01633:Fga	APN	3	83030299	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	83029154	missense	probably damaging	0.97
IGL02651:Fga	APN	3	83028534	missense	probably benign	0.00
IGL02822:Fga	APN	3	83031482	missense	probably damaging	1.00
IGL03003:Fga	APN	3	83032730	missense	probably damaging	1.00
R0336:Fga	UTSW	3	83030857	missense	probably damaging	1.00
R0540:Fga	UTSW	3	83028562	missense	probably damaging	1.00
R0607:Fga	UTSW	3	83028562	missense	probably damaging	1.00
R1471:Fga	UTSW	3	83028618	missense	probably benign	0.16
R1517:Fga	UTSW	3	83031838	missense	probably benign	0.00
R1817:Fga	UTSW	3	83031775	missense	probably benign	0.00
R1874:Fga	UTSW	3	83032721	missense	probably damaging	1.00
R2014:Fga	UTSW	3	83032757	missense	probably damaging	0.99
R2267:Fga	UTSW	3	83032950	missense	probably damaging	1.00
R2332:Fga	UTSW	3	83031397	missense	probably damaging	1.00
R2420:Fga	UTSW	3	83033154	missense	possibly damaging	0.53
R2443:Fga	UTSW	3	83028541	missense	probably benign	0.03
R3978:Fga	UTSW	3	83030183	critical splice acceptor site	probably null
R4597:Fga	UTSW	3	83031235	nonsense	probably null
R4644:Fga	UTSW	3	83030266	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	83031514	missense	probably benign
R4867:Fga	UTSW	3	83028644	missense	probably benign	0.00
R5449:Fga	UTSW	3	83030862	frame shift	probably null
R5507:Fga	UTSW	3	83033336	missense	probably damaging	1.00
R5712:Fga	UTSW	3	83033133	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	83030912	missense	probably damaging	1.00
R6865:Fga	UTSW	3	83031541	missense	probably damaging	1.00
R7163:Fga	UTSW	3	83026264	missense	probably benign	0.04
R7724:Fga	UTSW	3	83029125	missense	probably damaging	0.99
R8153:Fga	UTSW	3	83030857	missense	probably damaging	1.00
R8511:Fga	UTSW	3	83031757	nonsense	probably null
R8523:Fga	UTSW	3	83030851	missense	probably damaging	1.00
R8801:Fga	UTSW	3	83030881	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	83031804	missense	probably benign	0.12
R9390:Fga	UTSW	3	83033303	missense	probably damaging	1.00
R9609:Fga	UTSW	3	83032757	missense	probably damaging	1.00
X0062:Fga	UTSW	3	83030271	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCTTATGCGGAGTACCACTTC -3'
(R):5'- AGATCCGTGACACCTTCATC -3'

Sequencing Primer
(F):5'- CACTGCTGGAGATGCTCTG -3'
(R):5'- ATCCGTGACACCTTCATCTTCCG -3'

Posted On

2020-10-20