Mutagenetix > Incidental Mutation

Incidental Mutation 'R2420:Fga'

249190

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

Fib, ENSMUSG00000059807

MMRRC Submission

040382-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82933460-82940934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82940461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 705 (N705I)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000166581
AA Change: N705I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: N705I

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,270,921 (GRCm39)	K48R	probably damaging	Het
Acsm2	T	C	7: 119,162,857 (GRCm39)	F44L	probably damaging	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Ahnak	C	T	19: 8,986,620 (GRCm39)	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,437,179 (GRCm39)	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,767,629 (GRCm39)	I24V	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Chst9	A	T	18: 15,585,341 (GRCm39)	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341 (GRCm39)	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Egln1	T	C	8: 125,674,985 (GRCm39)	N270S	probably benign	Het
Eme1	A	G	11: 94,536,640 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,274 (GRCm39)	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,289,295 (GRCm39)	I259T	probably benign	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Gas1	G	T	13: 60,324,744 (GRCm39)		probably benign	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm44501	A	T	17: 40,889,600 (GRCm39)	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jcad	T	C	18: 4,675,952 (GRCm39)	M1238T	probably damaging	Het
Kank1	T	C	19: 25,387,821 (GRCm39)	L498S	probably damaging	Het
Krt10	G	A	11: 99,277,933 (GRCm39)	T338I	possibly damaging	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lilra6	A	G	7: 3,917,857 (GRCm39)	Y96H	probably damaging	Het
Ltc4s	A	G	11: 50,128,166 (GRCm39)		probably null	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mfn1	A	G	3: 32,623,664 (GRCm39)	I263V	probably benign	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Mug2	C	A	6: 122,060,419 (GRCm39)	T1385K	probably damaging	Het
Mypn	G	T	10: 63,028,648 (GRCm39)	Y138*	probably null	Het
Nav3	A	C	10: 109,699,674 (GRCm39)	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or4k42	T	C	2: 111,319,602 (GRCm39)		probably null	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5p51	T	C	7: 107,444,025 (GRCm39)	K305R	probably benign	Het
Pak1	A	T	7: 97,503,686 (GRCm39)	D7V	probably benign	Het
Pax3	A	T	1: 78,173,501 (GRCm39)		probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Prickle1	A	G	15: 93,401,518 (GRCm39)	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,532,896 (GRCm39)	E36G	possibly damaging	Het
Prss45	A	G	9: 110,668,160 (GRCm39)	I118V	possibly damaging	Het
Psd4	T	G	2: 24,291,253 (GRCm39)	V597G	probably damaging	Het
Psmb10	A	G	8: 106,663,934 (GRCm39)	S108P	probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Shank3	A	T	15: 89,405,413 (GRCm39)	K455*	probably null	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Tep1	T	A	14: 51,071,480 (GRCm39)	H2055L	probably benign	Het
Terb1	T	C	8: 105,225,227 (GRCm39)	T14A	probably damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyr	T	A	7: 87,078,397 (GRCm39)	I488F	probably benign	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wnk1	A	G	6: 119,913,328 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp13	A	C	17: 23,795,186 (GRCm39)	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	82,938,981 (GRCm39)	missense	probably damaging	1.00
IGL00478:Fga	APN	3	82,935,951 (GRCm39)	missense	probably benign	0.00
IGL00587:Fga	APN	3	82,937,596 (GRCm39)	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	82,938,552 (GRCm39)	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	82,937,518 (GRCm39)	missense	probably damaging	0.99
IGL01369:Fga	APN	3	82,937,507 (GRCm39)	missense	probably benign	0.00
IGL01409:Fga	APN	3	82,940,059 (GRCm39)	missense	probably damaging	1.00
IGL01541:Fga	APN	3	82,940,014 (GRCm39)	missense	probably damaging	1.00
IGL01633:Fga	APN	3	82,937,606 (GRCm39)	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	82,936,461 (GRCm39)	missense	probably damaging	0.97
IGL02651:Fga	APN	3	82,935,841 (GRCm39)	missense	probably benign	0.00
IGL02822:Fga	APN	3	82,938,789 (GRCm39)	missense	probably damaging	1.00
IGL03003:Fga	APN	3	82,940,037 (GRCm39)	missense	probably damaging	1.00
R0336:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R0540:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R0607:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R1471:Fga	UTSW	3	82,935,925 (GRCm39)	missense	probably benign	0.16
R1517:Fga	UTSW	3	82,939,145 (GRCm39)	missense	probably benign	0.00
R1817:Fga	UTSW	3	82,939,082 (GRCm39)	missense	probably benign	0.00
R1874:Fga	UTSW	3	82,940,028 (GRCm39)	missense	probably damaging	1.00
R2014:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	0.99
R2267:Fga	UTSW	3	82,940,257 (GRCm39)	missense	probably damaging	1.00
R2332:Fga	UTSW	3	82,938,704 (GRCm39)	missense	probably damaging	1.00
R2443:Fga	UTSW	3	82,935,848 (GRCm39)	missense	probably benign	0.03
R3978:Fga	UTSW	3	82,937,490 (GRCm39)	critical splice acceptor site	probably null
R4597:Fga	UTSW	3	82,938,542 (GRCm39)	nonsense	probably null
R4644:Fga	UTSW	3	82,937,573 (GRCm39)	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	82,938,821 (GRCm39)	missense	probably benign
R4867:Fga	UTSW	3	82,935,951 (GRCm39)	missense	probably benign	0.00
R5449:Fga	UTSW	3	82,938,169 (GRCm39)	frame shift	probably null
R5507:Fga	UTSW	3	82,940,643 (GRCm39)	missense	probably damaging	1.00
R5712:Fga	UTSW	3	82,940,440 (GRCm39)	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	82,938,219 (GRCm39)	missense	probably damaging	1.00
R6865:Fga	UTSW	3	82,938,848 (GRCm39)	missense	probably damaging	1.00
R7163:Fga	UTSW	3	82,933,571 (GRCm39)	missense	probably benign	0.04
R7724:Fga	UTSW	3	82,936,432 (GRCm39)	missense	probably damaging	0.99
R8153:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R8506:Fga	UTSW	3	82,940,623 (GRCm39)	missense	probably damaging	1.00
R8511:Fga	UTSW	3	82,939,064 (GRCm39)	nonsense	probably null
R8523:Fga	UTSW	3	82,938,158 (GRCm39)	missense	probably damaging	1.00
R8801:Fga	UTSW	3	82,938,188 (GRCm39)	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	82,939,111 (GRCm39)	missense	probably benign	0.12
R9390:Fga	UTSW	3	82,940,610 (GRCm39)	missense	probably damaging	1.00
R9609:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	1.00
X0062:Fga	UTSW	3	82,937,578 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTGGCTAGGCAATGACTACCTC -3'
(R):5'- CCCGTTCTCTATCTCATAGGGG -3'

Sequencing Primer
(F):5'- CTCAGTTCTCAGGGTTGAATTAGAG -3'
(R):5'- CTATCTCATAGGGGCTGTTGTTCC -3'

Posted On

2014-11-12