Mutagenetix > Incidental Mutation

Incidental Mutation 'R3429:Fgg'

267985

Institutional Source

Beutler Lab

Gene Symbol

Fgg

Ensembl Gene

ENSMUSG00000033860

Gene Name

fibrinogen gamma chain

Synonyms

3010002H13Rik, gamma-fibrinogen

MMRRC Submission

040647-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R3429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82915031-82922356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82920090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 290 (F290I)

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: F290I

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

SMART Domains

Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: F290I

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: F290I

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

SMART Domains

Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: F290I

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

0.9101

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (65/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,613,249 (GRCm39)	M1K	probably null	Het
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,602,980 (GRCm39)		probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Asah1	C	T	8: 41,804,925 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,752 (GRCm39)	L842P	probably damaging	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Cdh5	T	A	8: 104,857,600 (GRCm39)	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,512,088 (GRCm39)	E109D	probably benign	Het
Cntrl	T	C	2: 35,035,112 (GRCm39)	L913S	probably damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,438,573 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,151,892 (GRCm39)	N202K	probably damaging	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Eps8l2	G	A	7: 140,937,832 (GRCm39)		probably null	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Foxl2	T	C	9: 98,838,035 (GRCm39)	F108L	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Gstz1	T	A	12: 87,210,470 (GRCm39)		probably null	Het
Hacd1	T	C	2: 14,049,586 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,299,156 (GRCm39)	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,327,148 (GRCm39)	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,474,020 (GRCm39)		probably benign	Het
Lmntd2	A	G	7: 140,793,910 (GRCm39)	V21A	probably benign	Het
Lonp1	T	A	17: 56,925,337 (GRCm39)	D485V	probably damaging	Het
Mia2	A	G	12: 59,236,427 (GRCm39)	T1346A	possibly damaging	Het
Mpp2	T	C	11: 101,976,141 (GRCm39)	T6A	probably benign	Het
Mycbp2	A	T	14: 103,466,866 (GRCm39)	V1299E	probably damaging	Het
Myo1d	C	T	11: 80,573,236 (GRCm39)	G197E	probably damaging	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or2ak5	T	A	11: 58,611,097 (GRCm39)	Y259F	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or2y1e	C	T	11: 49,218,868 (GRCm39)	A210V	probably benign	Het
Or4c121	T	A	2: 89,023,617 (GRCm39)	I254L	probably benign	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Pnp	A	G	14: 51,185,443 (GRCm39)	D49G	probably benign	Het
Prkcq	T	C	2: 11,251,781 (GRCm39)	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sgce	T	A	6: 4,730,008 (GRCm39)	D72V	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sost	C	G	11: 101,854,865 (GRCm39)	G148A	probably damaging	Het
Sybu	T	C	15: 44,609,854 (GRCm39)	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tnxb	C	A	17: 34,891,605 (GRCm39)	C649*	probably null	Het
Tnxb	A	G	17: 34,922,561 (GRCm39)	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Zfp106	T	C	2: 120,357,544 (GRCm39)	H1117R	probably benign	Het
Zfp26	A	G	9: 20,352,756 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,990,914 (GRCm39)	T358A	possibly damaging	Het
Zfp804b	T	A	5: 7,230,625 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,153,006 (GRCm39)	S546P	probably benign	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
R4356:Fgg	UTSW	3	82,920,250 (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'- GCAGTGCTAACCAAGGTTAAATG -3'
(R):5'- ATCGTTGTCGTTGTCCCAGG -3'

Sequencing Primer
(F):5'- GTGCTAACCAAGGTTAAATGAATGC -3'
(R):5'- AGGTACTGAACTGCATGCC -3'

Posted On

2015-02-18