Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Fga'

74138

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 #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83030211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 132 (S132P)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably damaging
Transcript: ENSMUST00000029630
AA Change: S132P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: S132P

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: S132P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: S132P

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
Arfgef2	A	G	2: 166,871,495	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,968,388	S108P	probably benign	Het
B3gat1	T	C	9: 26,755,910	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,915,546	S45N	probably benign	Het
Birc6	C	T	17: 74,622,925	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,609,260	D67G	possibly damaging	Het
Cand2	A	G	6: 115,785,125	T171A	probably benign	Het
Ccdc77	T	C	6: 120,334,796	Q247R	probably benign	Het
Cenpp	A	T	13: 49,647,642	V100D	probably damaging	Het
Cep135	A	G	5: 76,591,765	T3A	probably benign	Het
Eef2k	T	C	7: 120,884,815		probably benign	Het
Gm4070	A	G	7: 105,896,802	S2348P	possibly damaging	Het
Gpr6	T	A	10: 41,071,559	N9I	possibly damaging	Het
Hacd3	A	G	9: 64,998,305	F184L	probably damaging	Het
Heatr1	T	C	13: 12,398,938	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,352,037		probably benign	Het
Ighv8-6	T	C	12: 115,165,857	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,146,390		probably benign	Het
Jade2	T	C	11: 51,825,338	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,298,442	T419A	probably benign	Het
Krt34	A	G	11: 100,038,780	S267P	possibly damaging	Het
Krt4	T	G	15: 101,920,281	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,865,564	E42D	probably benign	Het
Morc2b	A	G	17: 33,137,319	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,541,447	S557R	probably damaging	Het
Nup43	T	A	10: 7,669,556	F83I	probably benign	Het
Olfr107	G	T	17: 37,406,140	M197I	probably benign	Het
Oosp2	A	G	19: 11,647,461	L155S	probably damaging	Het
Plxnd1	T	A	6: 115,966,799	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,042,724	F79I	possibly damaging	Het
Prph	G	A	15: 99,058,636	S465N	possibly damaging	Het
Purg	A	T	8: 33,386,603	I90L	probably damaging	Het
Pxdn	C	A	12: 29,987,137	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,216,543	S816N	probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tmem201	G	A	4: 149,719,588		probably benign	Het
Tnfrsf22	G	A	7: 143,643,374	P76L	probably damaging	Het
Triml1	T	C	8: 43,138,563		probably null	Het
Upp1	A	G	11: 9,136,100	*312W	probably null	Het
Wdfy3	G	T	5: 101,895,064	S1940R	probably damaging	Het
Xpc	T	C	6: 91,492,353	Y804C	probably damaging	Het
Xrn2	C	T	2: 147,034,847		probably benign	Het
Zfp106	A	T	2: 120,524,464	D1275E	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
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
R9609:Fga	UTSW	3	83032757	missense	probably damaging	1.00
X0062:Fga	UTSW	3	83030271	missense	probably benign	0.08

Posted On

2013-10-07