Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Fgb'

226736

Institutional Source

Beutler Lab

Gene Symbol

Fgb

Ensembl Gene

ENSMUSG00000033831

Gene Name

fibrinogen beta chain

Synonyms

2510049G14Rik

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82949553-82957170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82956996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 25 (D25Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039472 (fasta)

Gene Model

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

AlphaFold

Q8K0E8

Predicted Effect

probably benign
Transcript: ENSMUST00000048246
AA Change: D25Y

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: D25Y

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,902,711 (GRCm39)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,971,755 (GRCm39)	D72V	probably benign	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Alpl	T	C	4: 137,476,856 (GRCm39)		probably benign	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bod1l	G	A	5: 41,974,429 (GRCm39)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,012,475 (GRCm39)		probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Csmd1	A	G	8: 15,950,782 (GRCm39)	S3476P	probably benign	Het
Ddias	A	T	7: 92,508,907 (GRCm39)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Espl1	T	C	15: 102,207,525 (GRCm39)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Gc	T	A	5: 89,594,376 (GRCm39)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,034,736 (GRCm39)	I178T	probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt4	C	A	15: 101,833,099 (GRCm39)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm39)		probably benign	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,541,347 (GRCm39)	N43D	probably benign	Het
Napa	A	T	7: 15,849,203 (GRCm39)		probably benign	Het
Ndufa12	A	G	10: 94,056,569 (GRCm39)	D99G	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	C	8: 61,460,196 (GRCm39)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,072,046 (GRCm39)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,403,926 (GRCm39)	Y301D	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Osmr	T	C	15: 6,844,896 (GRCm39)	N957D	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,027,349 (GRCm39)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,274,926 (GRCm39)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Ripor1	T	A	8: 106,344,340 (GRCm39)	S491R	probably benign	Het
Rnf141	A	G	7: 110,420,572 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,777,302 (GRCm39)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,598,465 (GRCm39)	N125S	probably benign	Het
Schip1	A	G	3: 68,525,119 (GRCm39)	K360R	probably damaging	Het
Senp6	T	A	9: 79,997,151 (GRCm39)	V55E	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,768,530 (GRCm39)	H130Q	probably benign	Het
Styx	T	C	14: 45,611,020 (GRCm39)	V217A	probably benign	Het
Syne2	G	A	12: 75,935,116 (GRCm39)		probably null	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,416,385 (GRCm39)	L135P	probably damaging	Het
Tmc1	A	G	19: 20,801,673 (GRCm39)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,639,647 (GRCm39)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,719,541 (GRCm39)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 88,988,692 (GRCm39)	E803G	probably benign	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,149,412 (GRCm39)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,368,264 (GRCm39)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,552,935 (GRCm39)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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

Predicted Primers

PCR Primer
(F):5'- CATTCTCACCCTGGAGAAACG -3'
(R):5'- GTTCAGCCAACAAGTGAACC -3'

Sequencing Primer
(F):5'- CTCACCCTGGAGAAACGAAGGTG -3'
(R):5'- GAGGTAACCATTCCTGAAGTCATGC -3'

Posted On

2014-09-17