Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01369:Fga'

76050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

Accession Numbers

Essential gene?

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

Stock #

IGL01369

Quality Score

Status

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83030200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 128 (Y128F)

Ref Sequence

ENSEMBL: ENSMUSP00000133117 (fasta)

Gene Model

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

AlphaFold

E9PV24

Predicted Effect

probably benign
Transcript: ENSMUST00000029630
AA Change: Y128F

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

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: Y128F

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: Y128F

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

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: Y128F

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

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
Abi2	A	G	1: 60,437,056	T96A	probably damaging	Het
Adam34	T	A	8: 43,651,057	K517M	probably benign	Het
Atm	A	T	9: 53,515,317	I547N	probably benign	Het
Cadm4	A	T	7: 24,499,522	D74V	possibly damaging	Het
Caprin1	G	A	2: 103,768,865	P46S	probably damaging	Het
Cbl	A	T	9: 44,201,061	Y112*	probably null	Het
Ccdc180	T	C	4: 45,900,256	V246A	probably benign	Het
Chd1	A	T	17: 15,754,997	E1103V	probably damaging	Het
Clock	G	A	5: 76,237,086	P428L	probably benign	Het
Cntn2	T	A	1: 132,516,105	I979F	probably benign	Het
Col2a1	A	G	15: 97,977,826	S1193P	unknown	Het
Fam205a1	T	C	4: 42,852,548		probably null	Het
Glyr1	A	T	16: 5,020,288	D365E	probably benign	Het
Gm436	T	C	4: 144,674,645	T90A	possibly damaging	Het
Gmppb	G	A	9: 108,051,247		probably null	Het
Gmps	A	T	3: 64,001,592	H505L	probably benign	Het
Hexim2	A	G	11: 103,138,638	N172S	probably benign	Het
Hmgcr	T	C	13: 96,666,522	E65G	probably null	Het
Hsd17b4	T	C	18: 50,172,033	S446P	possibly damaging	Het
Kirrel3	C	T	9: 35,016,441	T382I	probably benign	Het
Klra7	A	T	6: 130,226,535	Y169*	probably null	Het
Lmbrd1	T	C	1: 24,705,974		probably benign	Het
Loxhd1	A	G	18: 77,329,201	E211G	possibly damaging	Het
Maf1	T	A	15: 76,352,692	F44I	probably damaging	Het
Mmd2	A	G	5: 142,575,229	S84P	probably damaging	Het
Morc2b	T	C	17: 33,138,165	E211G	probably benign	Het
Mov10l1	T	C	15: 89,024,837		probably benign	Het
Mycbp2	C	A	14: 103,155,510	C3205F	possibly damaging	Het
Myg1	G	A	15: 102,334,338	V155M	probably benign	Het
Ncam2	A	G	16: 81,461,571	N247S	probably benign	Het
Nek11	A	G	9: 105,300,060		probably null	Het
Nt5dc3	T	A	10: 86,820,275		probably benign	Het
Nudcd3	A	G	11: 6,150,551	Y134H	probably damaging	Het
Ogfod1	T	C	8: 94,063,091		probably null	Het
Olfr1451	A	T	19: 12,999,761	L258F	possibly damaging	Het
Orm2	T	C	4: 63,362,978	V51A	probably benign	Het
P2ry14	T	C	3: 59,115,335	I244V	probably damaging	Het
Poll	A	G	19: 45,553,676	V397A	probably damaging	Het
Ppdpf	C	A	2: 181,187,894		probably benign	Het
Ptch1	T	C	13: 63,511,681	E1249G	probably benign	Het
Rdh16f1	C	A	10: 127,759,975	T13K	probably benign	Het
Rrp1	G	A	10: 78,405,071		probably benign	Het
Sec14l2	A	G	11: 4,103,432	M346T	probably benign	Het
Sh2d2a	A	T	3: 87,851,829	Q246L	probably benign	Het
Slc44a1	G	A	4: 53,491,448	D62N	probably damaging	Het
Snx22	A	G	9: 66,068,778	Y58H	probably damaging	Het
Ttn	T	A	2: 76,769,435	D19104V	probably damaging	Het
Ugt2a3	T	C	5: 87,327,120	S422G	probably damaging	Het
Zfyve19	G	T	2: 119,210,613		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
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
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

Posted On

2013-10-07