Mutagenetix > Incidental Mutation

Incidental Mutation 'R4356:Fgg'

327535

Institutional Source

Beutler Lab

Gene Symbol

Fgg

Ensembl Gene

ENSMUSG00000033860

Gene Name

fibrinogen gamma chain

Synonyms

3010002H13Rik, gamma-fibrinogen

MMRRC Submission

041669-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R4356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82915031-82922356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82920250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 343 (D343V)

Ref Sequence

ENSEMBL: ENSMUSP00000141648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048486] [ENSMUST00000194175]

AlphaFold

Q8VCM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048486
AA Change: D343V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: D343V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Fib_alpha	28	172	1.09e-72	SMART
FBG	173	414	6.77e-130	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193581

Predicted Effect

probably damaging
Transcript: ENSMUST00000194175
AA Change: D343V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: D343V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Fib_alpha	28	172	1.09e-72	SMART
FBG	173	414	6.77e-130	SMART

Meta Mutation Damage Score

0.9632

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: This gene encodes the gamma subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Mice lacking the encoded protein did not possess detectable amounts of plasma fibrinogen. Pregnant mice lacking the encoded protein die due to heavy bleeding during delivery. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Pregnant homozygous null mice exhibit retarded embryo-placental development, spontaneous abortion, and maternal death through excessive uterine bleeding. Mutants expressing a truncated polypeptide show reduced platelet aggregation, increased bleeding time, and occasional fatal neonatal bleeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,701 (GRCm39)	Y132N	probably damaging	Het
Adam21	T	C	12: 81,605,594 (GRCm39)	T723A	probably damaging	Het
Alox5	C	T	6: 116,397,219 (GRCm39)	V322I	probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ankhd1	A	T	18: 36,776,096 (GRCm39)	K1482*	probably null	Het
Cacna1e	A	C	1: 154,319,727 (GRCm39)	D1324E	probably damaging	Het
Ccdc150	A	G	1: 54,392,213 (GRCm39)	D657G	probably damaging	Het
Celsr1	A	G	15: 85,863,028 (GRCm39)	S1335P	probably damaging	Het
Cfhr4	T	A	1: 139,660,048 (GRCm39)	K621N	probably damaging	Het
Cspg5	A	G	9: 110,085,245 (GRCm39)	D391G	probably damaging	Het
Defa30	A	T	8: 21,624,821 (GRCm39)	D48V	possibly damaging	Het
E2f7	T	C	10: 110,595,712 (GRCm39)	Y136H	probably damaging	Het
Fam3d	A	G	14: 8,349,314 (GRCm38)	L212P	probably damaging	Het
Fbxw25	A	T	9: 109,491,153 (GRCm39)	C122S	probably damaging	Het
Flnb	T	A	14: 7,922,700 (GRCm38)	M1712K	probably benign	Het
Fnbp4	T	C	2: 90,588,683 (GRCm39)	S485P	probably damaging	Het
Ftsj3	G	A	11: 106,144,502 (GRCm39)	A134V	probably benign	Het
Gast	C	A	11: 100,227,373 (GRCm39)	S22Y	probably damaging	Het
Gm20834	T	A	Y: 10,322,962 (GRCm39)	H158L	possibly damaging	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Impg2	C	T	16: 56,080,527 (GRCm39)	T777I	probably damaging	Het
Kif11	C	A	19: 37,399,883 (GRCm39)	T790K	probably benign	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Nectin1	A	G	9: 43,703,802 (GRCm39)	D264G	probably benign	Het
Nipsnap3a	T	C	4: 52,995,979 (GRCm39)		probably null	Het
Or10al3	G	T	17: 38,011,790 (GRCm39)	E76D	probably damaging	Het
Or5w14	G	A	2: 87,542,229 (GRCm39)	S7F	possibly damaging	Het
P3h4	A	G	11: 100,304,452 (GRCm39)	F263S	probably damaging	Het
Pcdhga4	C	T	18: 37,820,664 (GRCm39)	H738Y	probably damaging	Het
Prickle2	A	T	6: 92,388,490 (GRCm39)	I304K	probably damaging	Het
Ptprq	A	T	10: 107,444,225 (GRCm39)	Y1460N	probably damaging	Het
Rbl2	A	G	8: 91,833,735 (GRCm39)	D812G	probably damaging	Het
Rbm19	A	G	5: 120,278,427 (GRCm39)	T737A	possibly damaging	Het
Rbsn	G	A	6: 92,184,029 (GRCm39)	L95F	possibly damaging	Het
Sall4	T	C	2: 168,597,400 (GRCm39)	E480G	probably benign	Het
Scfd1	T	A	12: 51,486,068 (GRCm39)	N541K	probably benign	Het
Scube3	G	A	17: 28,383,283 (GRCm39)	G442S	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smarcc1	A	G	9: 110,025,324 (GRCm39)	D667G	probably damaging	Het
Sned1	A	T	1: 93,193,113 (GRCm39)		probably null	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sun3	A	G	11: 8,966,328 (GRCm39)	V231A	probably damaging	Het
Vmn2r106	A	T	17: 20,499,910 (GRCm39)	D108E	probably benign	Het
Xdh	A	G	17: 74,222,685 (GRCm39)	V560A	probably benign	Het
Zfp352	T	A	4: 90,112,071 (GRCm39)	H70Q	possibly damaging	Het
Zfp40	C	A	17: 23,396,164 (GRCm39)	C73F	probably benign	Het
Zfp975	A	C	7: 42,311,251 (GRCm39)	L454R	probably damaging	Het
Zik1	A	T	7: 10,224,268 (GRCm39)	C276*	probably null	Het

Other mutations in Fgg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Fgg	APN	3	82,921,535 (GRCm39)	missense	possibly damaging	0.67
IGL01713:Fgg	APN	3	82,915,723 (GRCm39)	missense	probably benign	0.20
IGL02288:Fgg	APN	3	82,915,460 (GRCm39)	missense	probably benign	0.11
IGL02994:Fgg	APN	3	82,915,781 (GRCm39)	missense	probably benign
PIT4519001:Fgg	UTSW	3	82,920,246 (GRCm39)	missense	probably damaging	1.00
R1251:Fgg	UTSW	3	82,920,287 (GRCm39)	missense	probably benign	0.03
R2137:Fgg	UTSW	3	82,915,745 (GRCm39)	missense	possibly damaging	0.78
R2400:Fgg	UTSW	3	82,915,494 (GRCm39)	missense	possibly damaging	0.94
R2436:Fgg	UTSW	3	82,921,496 (GRCm39)	missense	possibly damaging	0.94
R3429:Fgg	UTSW	3	82,920,090 (GRCm39)	missense	probably damaging	1.00
R4612:Fgg	UTSW	3	82,917,397 (GRCm39)	missense	probably damaging	1.00
R4613:Fgg	UTSW	3	82,917,397 (GRCm39)	missense	probably damaging	1.00
R4828:Fgg	UTSW	3	82,915,677 (GRCm39)	splice site	probably benign
R4898:Fgg	UTSW	3	82,915,847 (GRCm39)	missense	probably benign	0.02
R4938:Fgg	UTSW	3	82,920,175 (GRCm39)	missense	probably benign	0.00
R4967:Fgg	UTSW	3	82,920,072 (GRCm39)	missense	probably benign	0.33
R5635:Fgg	UTSW	3	82,918,730 (GRCm39)	missense	probably benign	0.07
R5740:Fgg	UTSW	3	82,918,832 (GRCm39)	missense	probably benign	0.01
R6307:Fgg	UTSW	3	82,920,283 (GRCm39)	missense	probably damaging	0.98
R6731:Fgg	UTSW	3	82,920,208 (GRCm39)	missense	probably damaging	1.00
R6936:Fgg	UTSW	3	82,915,727 (GRCm39)	missense	possibly damaging	0.82
R7582:Fgg	UTSW	3	82,921,445 (GRCm39)	missense	probably damaging	1.00
R7769:Fgg	UTSW	3	82,920,433 (GRCm39)	splice site	probably null
R8258:Fgg	UTSW	3	82,917,477 (GRCm39)	nonsense	probably null
R8259:Fgg	UTSW	3	82,917,477 (GRCm39)	nonsense	probably null
R8290:Fgg	UTSW	3	82,920,141 (GRCm39)	missense	probably benign	0.00
R8810:Fgg	UTSW	3	82,920,322 (GRCm39)	missense	probably damaging	0.96
R8826:Fgg	UTSW	3	82,921,625 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTATGCCATGTTCAGGGTGG -3'
(R):5'- GCCAGTTGGATAATGAGTGGTATC -3'

Sequencing Primer
(F):5'- TGGGTCCCGAGTCTGACAAATAC -3'
(R):5'- GGATAATGAGTGGTATCCAATTCTG -3'

Posted On

2015-07-07