Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Fga'

167085

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

Fib, ENSMUSG00000059807

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

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

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82933460-82940934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82939145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 507 (S507P)

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: S507P

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

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: S507P

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: S507P

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

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: S507P

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably 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
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
R2420:Fga	UTSW	3	82,940,461 (GRCm39)	missense	possibly damaging	0.53
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'- TTTAGCGGCAGTCTCGACGAACTC -3'
(R):5'- GCCTGGTAAGCACTTCGCAGTAATG -3'

Sequencing Primer
(F):5'- GTCTCGACGAACTCTCTGAAAGG -3'
(R):5'- TAACTTAATCTAGGGGGGGGG -3'

Posted On

2014-04-13