Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Fga'

311108

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 83030183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably null
Transcript: ENSMUST00000029630

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001

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 null
Transcript: ENSMUST00000166581

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001

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

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674 (GRCm38)	T61A	probably benign	Het
Adam28	A	G	14: 68,610,994 (GRCm38)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,647,613 (GRCm38)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806 (GRCm38)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634 (GRCm38)	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622 (GRCm38)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933 (GRCm38)		probably null	Het
Azin1	A	T	15: 38,498,713 (GRCm38)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188 (GRCm38)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412 (GRCm38)	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037 (GRCm38)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879 (GRCm38)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588 (GRCm38)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163 (GRCm38)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,897,088 (GRCm38)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089 (GRCm38)		probably benign	Het
Eif3i	T	C	4: 129,592,336 (GRCm38)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035 (GRCm38)	M402L	probably benign	Het
Foxp2	A	G	6: 15,197,208 (GRCm38)		probably benign	Het
Gbp2	C	T	3: 142,629,986 (GRCm38)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,943,568 (GRCm38)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,517,850 (GRCm38)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131 (GRCm38)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101 (GRCm38)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351 (GRCm38)	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625 (GRCm38)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240 (GRCm38)	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584 (GRCm38)	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684 (GRCm38)	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838 (GRCm38)	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754 (GRCm38)	M249T	probably damaging	Het
Lin9	T	A	1: 180,668,792 (GRCm38)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,634,168 (GRCm38)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931 (GRCm38)	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898 (GRCm38)	T274I	probably damaging	Het
Or5p61	A	G	7: 108,159,612 (GRCm38)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685 (GRCm38)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629 (GRCm38)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254 (GRCm38)	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187 (GRCm38)	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075 (GRCm38)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111 (GRCm38)	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162 (GRCm38)	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399 (GRCm38)	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747 (GRCm38)		probably null	Het
Rorb	A	G	19: 18,937,890 (GRCm38)	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326 (GRCm38)	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885 (GRCm38)	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942 (GRCm38)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827 (GRCm38)	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860 (GRCm38)		probably null	Het
Slc5a5	A	G	8: 70,889,395 (GRCm38)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052 (GRCm38)	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348 (GRCm38)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160 (GRCm38)	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104 (GRCm38)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634 (GRCm38)	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740 (GRCm38)		probably benign	Het
Tspan9	A	G	6: 127,967,247 (GRCm38)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705 (GRCm38)		probably null	Het
Vmn2r68	T	A	7: 85,232,462 (GRCm38)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957 (GRCm38)		probably null	Het
Wee1	G	T	7: 110,124,555 (GRCm38)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284 (GRCm38)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,123,555 (GRCm38)	I951T	possibly damaging	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	83,031,674 (GRCm38)	missense	probably damaging	1.00
IGL00478:Fga	APN	3	83,028,644 (GRCm38)	missense	probably benign	0.00
IGL00587:Fga	APN	3	83,030,289 (GRCm38)	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	83,031,245 (GRCm38)	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	83,030,211 (GRCm38)	missense	probably damaging	0.99
IGL01369:Fga	APN	3	83,030,200 (GRCm38)	missense	probably benign	0.00
IGL01409:Fga	APN	3	83,032,752 (GRCm38)	missense	probably damaging	1.00
IGL01541:Fga	APN	3	83,032,707 (GRCm38)	missense	probably damaging	1.00
IGL01633:Fga	APN	3	83,030,299 (GRCm38)	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	83,029,154 (GRCm38)	missense	probably damaging	0.97
IGL02651:Fga	APN	3	83,028,534 (GRCm38)	missense	probably benign	0.00
IGL02822:Fga	APN	3	83,031,482 (GRCm38)	missense	probably damaging	1.00
IGL03003:Fga	APN	3	83,032,730 (GRCm38)	missense	probably damaging	1.00
R0336:Fga	UTSW	3	83,030,857 (GRCm38)	missense	probably damaging	1.00
R0540:Fga	UTSW	3	83,028,562 (GRCm38)	missense	probably damaging	1.00
R0607:Fga	UTSW	3	83,028,562 (GRCm38)	missense	probably damaging	1.00
R1471:Fga	UTSW	3	83,028,618 (GRCm38)	missense	probably benign	0.16
R1517:Fga	UTSW	3	83,031,838 (GRCm38)	missense	probably benign	0.00
R1817:Fga	UTSW	3	83,031,775 (GRCm38)	missense	probably benign	0.00
R1874:Fga	UTSW	3	83,032,721 (GRCm38)	missense	probably damaging	1.00
R2014:Fga	UTSW	3	83,032,757 (GRCm38)	missense	probably damaging	0.99
R2267:Fga	UTSW	3	83,032,950 (GRCm38)	missense	probably damaging	1.00
R2332:Fga	UTSW	3	83,031,397 (GRCm38)	missense	probably damaging	1.00
R2420:Fga	UTSW	3	83,033,154 (GRCm38)	missense	possibly damaging	0.53
R2443:Fga	UTSW	3	83,028,541 (GRCm38)	missense	probably benign	0.03
R4597:Fga	UTSW	3	83,031,235 (GRCm38)	nonsense	probably null
R4644:Fga	UTSW	3	83,030,266 (GRCm38)	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	83,031,514 (GRCm38)	missense	probably benign
R4867:Fga	UTSW	3	83,028,644 (GRCm38)	missense	probably benign	0.00
R5449:Fga	UTSW	3	83,030,862 (GRCm38)	frame shift	probably null
R5507:Fga	UTSW	3	83,033,336 (GRCm38)	missense	probably damaging	1.00
R5712:Fga	UTSW	3	83,033,133 (GRCm38)	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	83,030,912 (GRCm38)	missense	probably damaging	1.00
R6865:Fga	UTSW	3	83,031,541 (GRCm38)	missense	probably damaging	1.00
R7163:Fga	UTSW	3	83,026,264 (GRCm38)	missense	probably benign	0.04
R7724:Fga	UTSW	3	83,029,125 (GRCm38)	missense	probably damaging	0.99
R8153:Fga	UTSW	3	83,030,857 (GRCm38)	missense	probably damaging	1.00
R8506:Fga	UTSW	3	83,033,316 (GRCm38)	missense	probably damaging	1.00
R8511:Fga	UTSW	3	83,031,757 (GRCm38)	nonsense	probably null
R8523:Fga	UTSW	3	83,030,851 (GRCm38)	missense	probably damaging	1.00
R8801:Fga	UTSW	3	83,030,881 (GRCm38)	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	83,031,804 (GRCm38)	missense	probably benign	0.12
R9390:Fga	UTSW	3	83,033,303 (GRCm38)	missense	probably damaging	1.00
R9609:Fga	UTSW	3	83,032,757 (GRCm38)	missense	probably damaging	1.00
X0062:Fga	UTSW	3	83,030,271 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ACAGTGTGACTAATACCAGTGG -3'
(R):5'- GTCAGAGATAAACTGGGGCC -3'

Sequencing Primer
(F):5'- GGATGACTCTCCTGTGGAACAATC -3'
(R):5'- CAGGGCCAGGCTTACCTC -3'

Posted On

2015-04-29