Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Fgb'

572061

Institutional Source

Beutler Lab

Gene Symbol

Fgb

Ensembl Gene

ENSMUSG00000033831

Gene Name

fibrinogen beta chain

Synonyms

2510049G14Rik

MMRRC Submission

045454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82949553-82957170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82953359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 137 (Y137C)

Ref Sequence

ENSEMBL: ENSMUSP00000039472 (fasta)

Gene Model

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

AlphaFold

Q8K0E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048246
AA Change: Y137C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: Y137C

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,955,750 (GRCm39)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,725,683 (GRCm39)	S807G	probably benign	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Il2ra	T	A	2: 11,647,831 (GRCm39)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm39)	P1005T	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Urb2	C	A	8: 124,755,008 (GRCm39)	D238E	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	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
IGL02286:Fgb	APN	3	82,950,633 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CACCAAGGCTAACACTTGAGG -3'
(R):5'- TTTAACAACCACTCTAATGCCTGC -3'

Sequencing Primer
(F):5'- AAGGCTAACACTTGAGGAGTCTTGTC -3'
(R):5'- ATGCCTGCTATTTTCTTTGTTGACAG -3'

Posted On

2019-09-13