Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Fga'

724079

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: 0.322) question?

Stock #

R9609 (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 T at 83032757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 573 (I573F)

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: I573F

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

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: I573F

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,258,549	S241P	probably damaging	Het
Adam23	A	T	1: 63,536,943	M295L	probably benign	Het
Ano8	T	A	8: 71,481,082	D522V	unknown	Het
Asgr2	T	C	11: 70,097,841	L120P	probably damaging	Het
Atp5g2	A	G	15: 102,665,145	F79L	probably damaging	Het
Baiap2	C	T	11: 119,957,132	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,665,539	E145G		Het
Cad	T	C	5: 31,070,674		probably null	Het
Dhrs7b	A	G	11: 60,844,295	R51G	possibly damaging	Het
Dnah3	A	T	7: 120,071,013	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,709,360	G216S	probably null	Het
Dync1h1	T	C	12: 110,640,928	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,338,447	T81A	probably benign	Het
Fgd6	T	A	10: 94,043,812	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653	C41*	probably null	Het
Fibcd1	A	G	2: 31,838,641	V68A	probably benign	Het
Fign	T	C	2: 63,979,942	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,557,396	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,679,595	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,241,471	S36P	probably damaging	Het
Igsf10	G	T	3: 59,319,448	T2268N	probably damaging	Het
Krt75	A	G	15: 101,566,242	I473T	probably benign	Het
Lcn3	A	G	2: 25,767,584	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,570,954	V17A	probably damaging	Het
Malrd1	A	G	2: 15,695,270	S643G	unknown	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mlip	T	A	9: 77,138,515	L894F	possibly damaging	Het
Muc4	A	T	16: 32,756,860	T175S		Het
Nkpd1	A	C	7: 19,523,537	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,490,173	N834K	probably damaging	Het
Oacyl	A	G	18: 65,710,528	T99A	probably benign	Het
Patj	T	G	4: 98,688,236	F570L	probably benign	Het
Piwil4	T	C	9: 14,703,147	T107A		Het
Ppp1r12b	G	A	1: 134,896,346	Q180*	probably null	Het
Prpf4b	A	G	13: 34,884,049	D287G	unknown	Het
Rab17	T	C	1: 90,964,185	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,202,584	I125F	probably damaging	Het
Rnf207	C	A	4: 152,317,765	G74C	probably damaging	Het
Rrs1	T	C	1: 9,546,293	L257P	probably benign	Het
Ryr2	T	C	13: 11,668,962	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,936,526	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,688,115	T248S	possibly damaging	Het
Spen	A	G	4: 141,488,108	I471T	unknown	Het
Tbpl2	C	T	2: 24,087,185	D274N	probably damaging	Het
Timm23	A	G	14: 32,180,586	M200T	probably benign	Het
Tlr3	T	C	8: 45,397,080	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,028,751	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,430,161	N41S	possibly damaging	Het
Trim17	C	A	11: 58,965,138	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,447,222	T829A	probably damaging	Het
Ugt3a2	A	C	15: 9,361,819	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,136,669	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,523,470	L465P	probably damaging	Het
Vps13c	A	T	9: 67,934,549	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,850,258	D38G	probably damaging	Het
Xdh	T	A	17: 73,924,995	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,416,826	V23D	unknown	Het
Zkscan8	C	A	13: 21,525,264	V155F	possibly 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
R8506:Fga	UTSW	3	83033316	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
X0062:Fga	UTSW	3	83030271	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TACATCTCATTGTAGGTGCATCC -3'
(R):5'- CATTGCCTAGCCAGAATTCTCC -3'

Sequencing Primer
(F):5'- CATTGTAGGTGCATCCTTTTCG -3'
(R):5'- GCCTAGCCAGAATTCTCCTTCCC -3'

Posted On

2022-09-12