Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Fga'

535852

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83031541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 408 (C408S)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably damaging
Transcript: ENSMUST00000029630
AA Change: C408S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: C408S

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 damaging
Transcript: ENSMUST00000166581
AA Change: C408S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: C408S

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,270,213	M293L	possibly damaging	Het
Ankrd11	T	C	8: 122,894,944	D723G	probably benign	Het
Ankrd26	T	C	6: 118,523,481	R1010G	possibly damaging	Het
Apob	G	A	12: 8,008,847	R2410H	probably benign	Het
Auh	T	C	13: 52,838,129	D275G	probably damaging	Het
Card10	G	T	15: 78,802,622	D47E	possibly damaging	Het
Ccdc141	C	T	2: 77,029,235		probably null	Het
Cfap206	T	C	4: 34,714,448	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,086,915	Y500*	probably null	Het
Cop1	T	A	1: 159,308,954	D536E	probably damaging	Het
Crh	G	C	3: 19,694,140	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,621,827		probably null	Het
Efcab7	T	C	4: 99,912,596	S127P	probably damaging	Het
Efhc1	A	G	1: 20,960,218	Y125C	probably damaging	Het
Flot2	T	C	11: 78,049,492	S22P	probably benign	Het
Fndc1	T	A	17: 7,772,840	T675S	unknown	Het
Foxc1	A	G	13: 31,808,853	D549G	unknown	Het
Gldc	T	C	19: 30,133,762	N538S	possibly damaging	Het
Grk4	T	G	5: 34,731,550	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,770,129	R111G	probably benign	Het
Heatr6	C	T	11: 83,769,140	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,620,013		probably null	Het
Msrb1	T	C	17: 24,736,711	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo3a	A	G	2: 22,574,301	I185V	probably benign	Het
Myo5c	T	C	9: 75,269,596	S608P	probably benign	Het
Nek6	A	G	2: 38,569,666	I174V	probably benign	Het
Nmt2	T	C	2: 3,314,729	V252A	probably damaging	Het
Nudt9	G	T	5: 104,059,679	R179M	probably damaging	Het
Nwd1	T	C	8: 72,657,062	V29A	possibly damaging	Het
Olah	T	C	2: 3,342,927	D216G	possibly damaging	Het
Olfr156	T	C	4: 43,821,346	N5S	probably benign	Het
Olfr666	T	C	7: 104,893,512	I39V	probably benign	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Pkd1	T	C	17: 24,576,487	V2318A	probably benign	Het
Pknox1	T	A	17: 31,588,560	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,262,381	R321*	probably null	Het
Pxdn	A	G	12: 30,014,583		probably null	Het
Rab44	A	T	17: 29,139,227	I130F	probably benign	Het
Rnf130	T	C	11: 50,071,264	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,064,491	C450*	probably null	Het
Slco1c1	A	T	6: 141,540,052	Y136F	probably damaging	Het
Synj2	C	T	17: 6,017,569	Q106*	probably null	Het
Uckl1	T	C	2: 181,574,493	N138S	probably damaging	Het
Usp19	G	T	9: 108,498,819	E203*	probably null	Het
Vdr	A	G	15: 97,857,505	I379T	probably damaging	Het
Zfp503	C	A	14: 21,986,033	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,644,361	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,428,053	D249E	probably benign	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	83031674	missense	probably damaging	1.00
IGL00478:Fga	APN	3	83028644	missense	probably benign	0.00
IGL00587:Fga	APN	3	83030289	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	83031245	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	83030211	missense	probably damaging	0.99
IGL01369:Fga	APN	3	83030200	missense	probably benign	0.00
IGL01409:Fga	APN	3	83032752	missense	probably damaging	1.00
IGL01541:Fga	APN	3	83032707	missense	probably damaging	1.00
IGL01633:Fga	APN	3	83030299	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	83029154	missense	probably damaging	0.97
IGL02651:Fga	APN	3	83028534	missense	probably benign	0.00
IGL02822:Fga	APN	3	83031482	missense	probably damaging	1.00
IGL03003:Fga	APN	3	83032730	missense	probably damaging	1.00
R0336:Fga	UTSW	3	83030857	missense	probably damaging	1.00
R0540:Fga	UTSW	3	83028562	missense	probably damaging	1.00
R0607:Fga	UTSW	3	83028562	missense	probably damaging	1.00
R1471:Fga	UTSW	3	83028618	missense	probably benign	0.16
R1517:Fga	UTSW	3	83031838	missense	probably benign	0.00
R1817:Fga	UTSW	3	83031775	missense	probably benign	0.00
R1874:Fga	UTSW	3	83032721	missense	probably damaging	1.00
R2014:Fga	UTSW	3	83032757	missense	probably damaging	0.99
R2267:Fga	UTSW	3	83032950	missense	probably damaging	1.00
R2332:Fga	UTSW	3	83031397	missense	probably damaging	1.00
R2420:Fga	UTSW	3	83033154	missense	possibly damaging	0.53
R2443:Fga	UTSW	3	83028541	missense	probably benign	0.03
R3978:Fga	UTSW	3	83030183	critical splice acceptor site	probably null
R4597:Fga	UTSW	3	83031235	nonsense	probably null
R4644:Fga	UTSW	3	83030266	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	83031514	missense	probably benign
R4867:Fga	UTSW	3	83028644	missense	probably benign	0.00
R5449:Fga	UTSW	3	83030862	frame shift	probably null
R5507:Fga	UTSW	3	83033336	missense	probably damaging	1.00
R5712:Fga	UTSW	3	83033133	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	83030912	missense	probably damaging	1.00
R7163:Fga	UTSW	3	83026264	missense	probably benign	0.04
R7724:Fga	UTSW	3	83029125	missense	probably damaging	0.99
R8153:Fga	UTSW	3	83030857	missense	probably damaging	1.00
R8506:Fga	UTSW	3	83033316	missense	probably damaging	1.00
R8511:Fga	UTSW	3	83031757	nonsense	probably null
R8523:Fga	UTSW	3	83030851	missense	probably damaging	1.00
R8801:Fga	UTSW	3	83030881	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	83031804	missense	probably benign	0.12
R9390:Fga	UTSW	3	83033303	missense	probably damaging	1.00
R9609:Fga	UTSW	3	83032757	missense	probably damaging	1.00
X0062:Fga	UTSW	3	83030271	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCTGATGGCACTGGAGACTG -3'
(R):5'- GGTCAGGATGCCTTTCAGAGAG -3'

Sequencing Primer
(F):5'- CTCAGACTCTGGGAACTTTAGGC -3'
(R):5'- CCTTTCAGAGAGTTCGTCGAGAC -3'

Posted On

2018-10-18