Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02286:Fgb'

289982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgb

Ensembl Gene

ENSMUSG00000033831

Gene Name

fibrinogen beta chain

Synonyms

2510049G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

IGL02286

Quality Score

Status

Chromosome

Chromosomal Location

82949553-82957170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82950633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 374 (M374L)

Ref Sequence

ENSEMBL: ENSMUSP00000039472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048246]

AlphaFold

Q8K0E8

Predicted Effect

probably benign
Transcript: ENSMUST00000048246
AA Change: M374L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: M374L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
Fib_alpha	80	225	1.28e-64	SMART
FBG	226	477	1.6e-140	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dab1	A	G	4: 104,537,267 (GRCm39)	T187A	probably damaging	Het
Eno2	C	T	6: 124,743,543 (GRCm39)	R132H	probably damaging	Het
Fgf21	T	C	7: 45,264,561 (GRCm39)	D57G	possibly damaging	Het
Gcgr	A	G	11: 120,428,757 (GRCm39)	T354A	probably damaging	Het
Gm12790	T	C	4: 101,824,918 (GRCm39)	T117A	probably benign	Het
Myo18a	C	T	11: 77,668,811 (GRCm39)	Q224*	probably null	Het
N4bp2	A	G	5: 65,960,895 (GRCm39)	Y522C	probably damaging	Het
Nt5dc3	G	A	10: 86,656,644 (GRCm39)		probably benign	Het
Or12e13	G	A	2: 87,663,592 (GRCm39)	A70T	probably damaging	Het
Ppp1r3b	C	T	8: 35,851,515 (GRCm39)	A118V	probably benign	Het
Slc37a2	C	T	9: 37,146,455 (GRCm39)	A351T	probably damaging	Het
Tlr11	T	C	14: 50,598,328 (GRCm39)	F105L	possibly damaging	Het
Vwa8	G	A	14: 79,184,713 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,563,434 (GRCm39)	I474F	possibly damaging	Het
Zfp790	A	G	7: 29,529,160 (GRCm39)	K615R	possibly damaging	Het

Other mutations in Fgb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Fgb	APN	3	82,950,598 (GRCm39)	missense	possibly damaging	0.95
IGL02129:Fgb	APN	3	82,950,725 (GRCm39)	missense	probably benign	0.05
IGL02148:Fgb	APN	3	82,950,594 (GRCm39)	missense	probably damaging	0.99
IGL02601:Fgb	APN	3	82,952,367 (GRCm39)	missense	probably benign	0.06
IGL02721:Fgb	APN	3	82,950,674 (GRCm39)	missense	possibly damaging	0.89
G1patch:Fgb	UTSW	3	82,951,098 (GRCm39)	missense	probably damaging	1.00
R1217:Fgb	UTSW	3	82,950,564 (GRCm39)	missense	probably damaging	0.99
R1424:Fgb	UTSW	3	82,954,070 (GRCm39)	missense	probably damaging	0.99
R1913:Fgb	UTSW	3	82,952,287 (GRCm39)	missense	probably benign	0.03
R1990:Fgb	UTSW	3	82,951,560 (GRCm39)	nonsense	probably null
R2063:Fgb	UTSW	3	82,956,996 (GRCm39)	missense	probably benign	0.09
R2065:Fgb	UTSW	3	82,956,996 (GRCm39)	missense	probably benign	0.09
R2066:Fgb	UTSW	3	82,956,996 (GRCm39)	missense	probably benign	0.09
R2067:Fgb	UTSW	3	82,956,996 (GRCm39)	missense	probably benign	0.09
R2251:Fgb	UTSW	3	82,950,591 (GRCm39)	missense	probably damaging	1.00
R4682:Fgb	UTSW	3	82,950,572 (GRCm39)	missense	probably benign	0.00
R5045:Fgb	UTSW	3	82,950,680 (GRCm39)	missense	probably damaging	1.00
R5573:Fgb	UTSW	3	82,956,984 (GRCm39)	splice site	probably null
R5766:Fgb	UTSW	3	82,953,483 (GRCm39)	missense	probably damaging	1.00
R6103:Fgb	UTSW	3	82,951,170 (GRCm39)	missense	probably benign	0.22
R6315:Fgb	UTSW	3	82,952,362 (GRCm39)	missense	probably benign	0.00
R6469:Fgb	UTSW	3	82,953,449 (GRCm39)	nonsense	probably null
R6664:Fgb	UTSW	3	82,954,066 (GRCm39)	missense	probably damaging	1.00
R6725:Fgb	UTSW	3	82,951,098 (GRCm39)	missense	probably damaging	1.00
R6727:Fgb	UTSW	3	82,954,094 (GRCm39)	missense	possibly damaging	0.62
R6830:Fgb	UTSW	3	82,952,332 (GRCm39)	missense	probably benign	0.07
R7016:Fgb	UTSW	3	82,953,371 (GRCm39)	missense	probably benign	0.01
R7132:Fgb	UTSW	3	82,954,053 (GRCm39)	nonsense	probably null
R7371:Fgb	UTSW	3	82,953,359 (GRCm39)	missense	probably damaging	0.99
R7430:Fgb	UTSW	3	82,954,014 (GRCm39)	missense	probably benign	0.26
R7681:Fgb	UTSW	3	82,957,139 (GRCm39)	start gained	probably benign
R7811:Fgb	UTSW	3	82,957,004 (GRCm39)	missense	probably benign
R8171:Fgb	UTSW	3	82,949,822 (GRCm39)	missense	probably damaging	0.99
R8787:Fgb	UTSW	3	82,953,969 (GRCm39)	missense	probably benign	0.00
R9526:Fgb	UTSW	3	82,957,122 (GRCm39)	start gained	probably benign
R9562:Fgb	UTSW	3	82,952,409 (GRCm39)	critical splice acceptor site	probably null
Z1177:Fgb	UTSW	3	82,952,363 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16