Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Fga'

204473

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

ENSMUSG00000059807, Fib

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

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

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83026076-83033627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83031775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 486 (T486A)

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: T486A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: T486A

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: T486A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: T486A

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

0.0902

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,219,318	S600T	probably benign	Het
Acly	T	A	11: 100,495,891	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,310,033	T387K	probably benign	Het
Afg3l1	G	T	8: 123,501,931	K745N	probably damaging	Het
Armc8	T	C	9: 99,536,259	T39A	possibly damaging	Het
Atm	C	A	9: 53,492,233		probably benign	Het
Babam2	A	G	5: 32,057,546	T324A	probably damaging	Het
Btd	C	A	14: 31,662,289	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,829,370		probably benign	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccni	G	T	5: 93,188,108	T144K	possibly damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Cpsf7	T	C	19: 10,535,439	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,873,448	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,414,062		probably benign	Het
Ddx20	A	T	3: 105,678,580	Y816*	probably null	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Dgat1	T	A	15: 76,502,503	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,400	L628*	probably null	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,927,126	T215A	probably benign	Het
Dsg4	C	T	18: 20,471,245	T923M	probably damaging	Het
Enox1	A	G	14: 77,615,475	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,134,618	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,178,373	P79S	probably benign	Het
Fkbp10	G	T	11: 100,415,889	A36S	probably benign	Het
Fnip1	A	G	11: 54,502,453	T572A	probably benign	Het
Fxn	A	C	19: 24,280,401		probably null	Het
Gaa	C	T	11: 119,284,498	Q901*	probably null	Het
Gabrg1	A	G	5: 70,754,251	M344T	probably benign	Het
Galnt7	C	T	8: 57,538,178	V433M	probably damaging	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gm5155	C	T	7: 17,873,330		noncoding transcript	Het
Hydin	A	C	8: 110,532,827	D2477A	probably benign	Het
Igsf6	T	C	7: 121,070,808	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Kif3a	T	C	11: 53,598,734	Y138H	probably damaging	Het
Klra17	A	G	6: 129,868,718		probably null	Het
Lcorl	A	T	5: 45,795,346	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,602,776	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,179,274	L384S	probably damaging	Het
Mageb3	A	T	2: 121,954,437	Y261*	probably null	Het
Mb21d1	A	G	9: 78,434,311		probably null	Het
Mical3	T	G	6: 121,042,235	T9P	probably benign	Het
Mpp6	T	G	6: 50,163,431	F144V	probably benign	Het
Myrip	C	T	9: 120,388,162	S49L	probably damaging	Het
Nrap	T	C	19: 56,384,055		probably benign	Het
Olfr164	T	C	16: 19,285,877	N289D	probably damaging	Het
Olfr729	A	G	14: 50,148,271	V201A	probably benign	Het
Otoa	A	T	7: 121,160,530		probably benign	Het
Parp11	T	A	6: 127,490,045	I133N	probably damaging	Het
Pcnx	A	G	12: 81,918,642	T528A	probably benign	Het
Pde4c	A	G	8: 70,726,989	H63R	probably benign	Het
Pdpk1	T	C	17: 24,110,904	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,036,176	M468K	probably damaging	Het
Perm1	C	A	4: 156,218,604	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,535,969	A265S	probably benign	Het
Pik3c2a	A	T	7: 116,376,512		probably null	Het
Plxnd1	T	C	6: 115,980,601	T491A	possibly damaging	Het
Pms1	A	T	1: 53,206,969	D470E	probably benign	Het
Prf1	C	A	10: 61,302,983	T240N	probably damaging	Het
Prune2	A	G	19: 17,122,081	T1650A	probably benign	Het
Ptprf	A	G	4: 118,223,265	L1264P	probably benign	Het
Ptprs	A	G	17: 56,419,527	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,686,256	V117A	probably damaging	Het
Rnf123	A	G	9: 108,062,926	V756A	probably benign	Het
Sez6l2	A	G	7: 126,967,119	E741G	probably damaging	Het
Shc3	A	T	13: 51,472,852	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,008,058		probably benign	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,321,333	K85*	probably null	Het
Taf1b	T	G	12: 24,547,122	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,067,703	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,224,943	M478L	probably benign	Het
Tpr	A	T	1: 150,419,903	E892D	probably damaging	Het
Trio	C	T	15: 27,742,495	W22*	probably null	Het
Usp14	A	G	18: 10,024,673	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,330,052	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,472,373	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,715,615	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,642	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,092,305	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767	V539A	probably benign	Het
Zfp180	G	A	7: 24,105,227	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,568,617	L458P	probably damaging	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zfp970	C	T	2: 177,476,183	H517Y	probably damaging	Het
Zranb3	A	T	1: 128,017,556		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGATCACCTCGGATGATGGC -3'
(R):5'- ATCTCCCGAAAGTTAAGTGTCG -3'

Sequencing Primer
(F):5'- CTCGGATGATGGCTCAGACTG -3'
(R):5'- CCGAAAGTTAAGTGTCGATACCTCTC -3'

Posted On

2014-06-23