Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Fgb'

510576

Institutional Source

Beutler Lab

Gene Symbol

Fgb

Ensembl Gene

ENSMUSG00000033831

Gene Name

fibrinogen beta chain

Synonyms

2510049G14Rik

MMRRC Submission

044472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82949553-82957170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82952362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 169 (Q169L)

Ref Sequence

ENSEMBL: ENSMUSP00000039472 (fasta)

Gene Model

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

AlphaFold

Q8K0E8

Predicted Effect

probably benign
Transcript: ENSMUST00000048246
AA Change: Q169L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: Q169L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGGTTAGATCTTCAGGAAGTC -3'
(R):5'- AGTCACGATTGCTTAGTGGC -3'

Sequencing Primer
(F):5'- GATCTTCAGGAAGTCTATGGAAATG -3'
(R):5'- GATTGCTTAGTGGCACCCCAAAG -3'

Posted On

2018-04-02