Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Fga'

557714

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 #

R7163 (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 C at 83026264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000029630 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably benign
Transcript: ENSMUST00000029630
AA Change: V17A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: V17A

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 benign
Transcript: ENSMUST00000166581
AA Change: V17A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: V17A

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,408,072	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,414,624	G19D	probably damaging	Het
Abca3	A	T	17: 24,364,942	M102L	probably benign	Het
Adam19	A	T	11: 46,131,717	Y499F	probably benign	Het
Adck2	T	C	6: 39,583,863	V444A	probably damaging	Het
Adck5	T	C	15: 76,593,816	V214A	probably damaging	Het
Agrn	G	A	4: 156,178,509	T437M	probably damaging	Het
Aox3	A	T	1: 58,119,512	I81F	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Blmh	A	G	11: 76,946,161	Y23C	unknown	Het
Cacnb1	A	G	11: 98,012,900	V109A	probably benign	Het
Ccdc27	C	T	4: 154,032,825	R555H	not run	Het
Cep170	A	C	1: 176,774,465	S358R	probably damaging	Het
Cfap46	A	T	7: 139,618,078		probably null	Het
Dclk1	G	T	3: 55,256,128	E214*	probably null	Het
Dhrs1	A	G	14: 55,739,381	L282P	probably benign	Het
Dlgap5	A	G	14: 47,399,638	L461P	probably damaging	Het
Elp2	G	T	18: 24,614,446	C185F	probably benign	Het
Fbxw7	T	C	3: 84,925,585		probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm43302	T	A	5: 105,293,627		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hcn1	A	T	13: 117,925,547	I450L	unknown	Het
Hydin	T	A	8: 110,603,336	C4901S	probably benign	Het
Ino80	A	T	2: 119,392,875	I1186N	probably damaging	Het
Ints7	T	A	1: 191,617,837	I781N	possibly damaging	Het
Irf2	T	A	8: 46,837,677	V178E	possibly damaging	Het
Iws1	T	A	18: 32,093,224	S722T	possibly damaging	Het
Jak1	G	A	4: 101,175,188	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,632,077	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940	S169P	probably damaging	Het
Kif15	A	G	9: 123,017,657	N1348S	probably damaging	Het
Kpna7	G	A	5: 145,002,396	P187L	unknown	Het
Krt35	A	T	11: 100,096,158	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,256,737	V131F	probably benign	Het
Mcf2l	G	A	8: 12,915,439	R4H	probably benign	Het
Megf6	C	T	4: 154,267,441	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,926,576	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,981,490	V121A	probably benign	Het
Myl2	T	A	5: 122,101,822	I26N	probably damaging	Het
Myo15	A	G	11: 60,498,369	M862V		Het
Nckap5l	T	C	15: 99,433,473	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,744,710	E90A	probably benign	Het
Nup210	G	T	6: 91,073,331	N385K	probably damaging	Het
Olfr1029	T	A	2: 85,975,588	L115Q	probably damaging	Het
Olfr311	T	C	11: 58,841,186	V24A	probably benign	Het
Olfr330	C	A	11: 58,529,168	E273*	probably null	Het
Olfr897-ps1	T	C	9: 38,309,049	F85L	probably damaging	Het
Olfr90	T	C	17: 37,086,045	N40S	probably damaging	Het
Park2	G	A	17: 12,061,547	C430Y	probably damaging	Het
Pcmt1	A	T	10: 7,638,158	M249K	probably benign	Het
Pde3a	T	C	6: 141,487,544	L767P	probably damaging	Het
Pde8a	T	C	7: 81,306,708	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,665	K690*	probably null	Het
Plxna4	T	C	6: 32,496,756	H442R	probably benign	Het
Polr1b	A	G	2: 129,126,011	D1108G	probably benign	Het
Sec23ip	T	C	7: 128,762,533		probably null	Het
Slc24a3	A	G	2: 145,244,991	D57G	probably benign	Het
Sprtn	T	G	8: 124,898,305	F50V	probably damaging	Het
Srr	A	G	11: 74,913,002	F43S	probably damaging	Het
Szt2	A	G	4: 118,405,530	F17L	possibly damaging	Het
Taar1	G	T	10: 23,921,020	M205I	probably benign	Het
Tas2r143	A	G	6: 42,400,268	I11V	probably benign	Het
Tlx1	T	C	19: 45,151,216	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,938,344		probably null	Het
Vhl	A	G	6: 113,629,490	D156G	possibly damaging	Het
Washc4	T	A	10: 83,591,033	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,200,732	V101A	probably benign	Het
Zfp82	T	C	7: 30,062,244	R71G	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
R6865:Fga	UTSW	3	83031541	missense	probably damaging	1.00
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'- ATTATGGTCAGAGCACAGGAC -3'
(R):5'- AGATCTCTCGTTATCCTAGGGC -3'

Sequencing Primer
(F):5'- CAGGACACACTGTGAGCTTTG -3'
(R):5'- GGCCTCCCTCTGGACATCAC -3'

Posted On

2019-06-26