Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00478:Fga'

332185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

Fib, ENSMUSG00000059807

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

IGL00478

Quality Score

Status

Chromosome

Chromosomal Location

82933460-82940934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82935951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 59 (D59E)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably benign
Transcript: ENSMUST00000029630
AA Change: D59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: D59E

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 benign
Transcript: ENSMUST00000166581
AA Change: D59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: D59E

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,774,604 (GRCm39)	T578A	possibly damaging	Het
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Akap9	G	A	5: 4,096,639 (GRCm39)	V2505M	probably damaging	Het
Alpk2	A	T	18: 65,440,297 (GRCm39)	C365*	probably null	Het
C920021L13Rik	A	T	3: 95,794,797 (GRCm39)		probably benign	Het
Chd3	A	T	11: 69,247,888 (GRCm39)	V905E	probably damaging	Het
Cntrl	T	C	2: 35,050,613 (GRCm39)	V1529A	probably damaging	Het
Coro2a	T	C	4: 46,540,455 (GRCm39)	D488G	probably benign	Het
Dpf1	G	T	7: 29,015,981 (GRCm39)		probably benign	Het
Ggh	T	A	4: 20,057,965 (GRCm39)	H175Q	probably benign	Het
Glyat	T	C	19: 12,625,497 (GRCm39)		probably benign	Het
Gpr137c	T	C	14: 45,516,202 (GRCm39)	V312A	probably damaging	Het
Myt1	T	C	2: 181,442,908 (GRCm39)	S466P	probably damaging	Het
Nlrp5	A	T	7: 23,141,213 (GRCm39)	D1078V	probably damaging	Het
Rad17	T	C	13: 100,769,782 (GRCm39)	D259G	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Uspl1	A	T	5: 149,152,024 (GRCm39)	T1075S	possibly damaging	Het
Vash1	T	A	12: 86,727,042 (GRCm39)	I94N	possibly damaging	Het
Zfp770	T	C	2: 114,027,946 (GRCm39)	E41G	probably damaging	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	82,938,981 (GRCm39)	missense	probably damaging	1.00
IGL00587:Fga	APN	3	82,937,596 (GRCm39)	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	82,938,552 (GRCm39)	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	82,937,518 (GRCm39)	missense	probably damaging	0.99
IGL01369:Fga	APN	3	82,937,507 (GRCm39)	missense	probably benign	0.00
IGL01409:Fga	APN	3	82,940,059 (GRCm39)	missense	probably damaging	1.00
IGL01541:Fga	APN	3	82,940,014 (GRCm39)	missense	probably damaging	1.00
IGL01633:Fga	APN	3	82,937,606 (GRCm39)	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	82,936,461 (GRCm39)	missense	probably damaging	0.97
IGL02651:Fga	APN	3	82,935,841 (GRCm39)	missense	probably benign	0.00
IGL02822:Fga	APN	3	82,938,789 (GRCm39)	missense	probably damaging	1.00
IGL03003:Fga	APN	3	82,940,037 (GRCm39)	missense	probably damaging	1.00
R0336:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R0540:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R0607:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R1471:Fga	UTSW	3	82,935,925 (GRCm39)	missense	probably benign	0.16
R1517:Fga	UTSW	3	82,939,145 (GRCm39)	missense	probably benign	0.00
R1817:Fga	UTSW	3	82,939,082 (GRCm39)	missense	probably benign	0.00
R1874:Fga	UTSW	3	82,940,028 (GRCm39)	missense	probably damaging	1.00
R2014:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	0.99
R2267:Fga	UTSW	3	82,940,257 (GRCm39)	missense	probably damaging	1.00
R2332:Fga	UTSW	3	82,938,704 (GRCm39)	missense	probably damaging	1.00
R2420:Fga	UTSW	3	82,940,461 (GRCm39)	missense	possibly damaging	0.53
R2443:Fga	UTSW	3	82,935,848 (GRCm39)	missense	probably benign	0.03
R3978:Fga	UTSW	3	82,937,490 (GRCm39)	critical splice acceptor site	probably null
R4597:Fga	UTSW	3	82,938,542 (GRCm39)	nonsense	probably null
R4644:Fga	UTSW	3	82,937,573 (GRCm39)	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	82,938,821 (GRCm39)	missense	probably benign
R4867:Fga	UTSW	3	82,935,951 (GRCm39)	missense	probably benign	0.00
R5449:Fga	UTSW	3	82,938,169 (GRCm39)	frame shift	probably null
R5507:Fga	UTSW	3	82,940,643 (GRCm39)	missense	probably damaging	1.00
R5712:Fga	UTSW	3	82,940,440 (GRCm39)	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	82,938,219 (GRCm39)	missense	probably damaging	1.00
R6865:Fga	UTSW	3	82,938,848 (GRCm39)	missense	probably damaging	1.00
R7163:Fga	UTSW	3	82,933,571 (GRCm39)	missense	probably benign	0.04
R7724:Fga	UTSW	3	82,936,432 (GRCm39)	missense	probably damaging	0.99
R8153:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R8506:Fga	UTSW	3	82,940,623 (GRCm39)	missense	probably damaging	1.00
R8511:Fga	UTSW	3	82,939,064 (GRCm39)	nonsense	probably null
R8523:Fga	UTSW	3	82,938,158 (GRCm39)	missense	probably damaging	1.00
R8801:Fga	UTSW	3	82,938,188 (GRCm39)	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	82,939,111 (GRCm39)	missense	probably benign	0.12
R9390:Fga	UTSW	3	82,940,610 (GRCm39)	missense	probably damaging	1.00
R9609:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	1.00
X0062:Fga	UTSW	3	82,937,578 (GRCm39)	missense	probably benign	0.08

Posted On

2015-08-05