Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01409:Fga'

79922

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL01409

Quality Score

Status

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83032752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 571 (F571S)

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: F571S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: F571S

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap26	C	T	18: 39,110,451		probably benign	Het
Asxl1	T	C	2: 153,392,940		probably benign	Het
Atm	A	T	9: 53,499,171	V1037E	probably benign	Het
Bmp6	A	G	13: 38,485,889	N383S	probably damaging	Het
Btbd11	C	T	10: 85,658,165	A1049V	possibly damaging	Het
Btf3l4	A	C	4: 108,819,197	S103R	probably damaging	Het
Cadps2	T	C	6: 23,587,441	D321G	probably damaging	Het
Ccdc144b	T	A	3: 36,025,928	M227L	possibly damaging	Het
Col24a1	G	A	3: 145,538,564	S1531N	probably benign	Het
Cpb1	T	A	3: 20,249,805	Y365F	possibly damaging	Het
Dpp6	T	C	5: 27,557,601	Y238H	probably damaging	Het
Epha6	G	A	16: 59,655,737	R1089*	probably null	Het
Fam46c	A	T	3: 100,473,169	D90E	probably damaging	Het
Focad	A	G	4: 88,342,305	T933A	unknown	Het
Gria2	A	G	3: 80,707,697		probably null	Het
Hnrnpul1	T	C	7: 25,724,652	N725S	unknown	Het
Ik	A	T	18: 36,756,921	K534N	probably damaging	Het
Itga8	T	C	2: 12,191,714	T631A	probably benign	Het
Kcnip1	G	T	11: 33,630,593	D214E	probably benign	Het
Kcnk10	A	T	12: 98,490,063	Y170N	probably damaging	Het
Lalba	A	G	15: 98,482,067		probably null	Het
Ly75	A	T	2: 60,321,692		probably null	Het
Myh10	T	C	11: 68,807,219	L1629P	probably damaging	Het
Myo15b	C	A	11: 115,869,504	C1127*	probably null	Het
Neurl4	T	G	11: 69,907,099	N728K	probably damaging	Het
Nrxn3	T	A	12: 89,510,358	F801Y	probably damaging	Het
Nup214	G	T	2: 32,026,931		probably null	Het
Obscn	G	A	11: 59,031,058	R6624C	probably damaging	Het
Olfr123	T	C	17: 37,795,522	F26S	probably damaging	Het
Pdk1	A	G	2: 71,895,779	T344A	probably benign	Het
Pitx2	C	A	3: 129,214,764	S63Y	probably damaging	Het
Ppara	A	C	15: 85,777,643	L28F	probably damaging	Het
Rad54l	G	A	4: 116,105,877	T308I	probably damaging	Het
Sbds	T	C	5: 130,254,066	E7G	probably damaging	Het
Slc22a19	T	C	19: 7,711,130	I22V	probably benign	Het
Slfn10-ps	T	C	11: 83,035,496		noncoding transcript	Het
Spag4	T	C	2: 156,069,332	S396P	possibly damaging	Het
Spef2	C	A	15: 9,716,413	L362F	probably damaging	Het
Srebf2	A	G	15: 82,171,218	T208A	probably damaging	Het
Ssc5d	A	G	7: 4,942,809	T947A	probably benign	Het
Tdp1	T	C	12: 99,909,681	I297T	possibly damaging	Het
Tsen2	T	C	6: 115,559,594	Y104H	possibly damaging	Het
Was	G	A	X: 8,087,816	R229C	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
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
R9609:Fga	UTSW	3	83032757	missense	probably damaging	1.00
X0062:Fga	UTSW	3	83030271	missense	probably benign	0.08

Posted On

2013-11-05