Mutagenetix > Incidental Mutation

Incidental Mutation 'R7582:Fgg'

586782

Institutional Source

Beutler Lab

Gene Symbol

Fgg

Ensembl Gene

ENSMUSG00000033860

Gene Name

fibrinogen gamma chain

Synonyms

3010002H13Rik, gamma-fibrinogen

MMRRC Submission

045665-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R7582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82915031-82922356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82921445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 376 (G376D)

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: G376D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: G376D

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

probably damaging
Transcript: ENSMUST00000194175
AA Change: G376D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: G376D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,266,565 (GRCm39)	V1007A	probably damaging	Het
Adgrl3	T	C	5: 81,841,523 (GRCm39)	V800A	probably damaging	Het
Ankfn1	T	A	11: 89,417,445 (GRCm39)	M56L	probably benign	Het
Arfgap3	A	C	15: 83,187,302 (GRCm39)	V72G	possibly damaging	Het
B3galnt2	C	T	13: 14,165,986 (GRCm39)	R294W	probably damaging	Het
Cadm1	G	T	9: 47,708,740 (GRCm39)	D157Y	probably damaging	Het
Castor1	T	C	11: 4,170,457 (GRCm39)	V151A	probably benign	Het
Ccdc81	A	T	7: 89,525,353 (GRCm39)	Y474N	probably damaging	Het
Cdkl4	T	A	17: 80,841,264 (GRCm39)	K297I	probably benign	Het
Cep128	G	A	12: 91,314,340 (GRCm39)	T146M	probably damaging	Het
Cfap161	T	C	7: 83,426,290 (GRCm39)	N236S	possibly damaging	Het
Chil3	A	T	3: 106,071,572 (GRCm39)	W31R	probably damaging	Het
Cmtm2b	C	T	8: 105,049,353 (GRCm39)	S86F	probably damaging	Het
Cntnap5a	G	A	1: 116,374,362 (GRCm39)	G958D	probably damaging	Het
Col6a5	A	G	9: 105,822,625 (GRCm39)	L244P	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cul9	A	G	17: 46,821,905 (GRCm39)	Y1857H	probably damaging	Het
Dst	A	G	1: 34,208,964 (GRCm39)	Q1154R	probably damaging	Het
Fmn2	T	C	1: 174,526,356 (GRCm39)	S1392P	probably damaging	Het
Focad	T	C	4: 88,147,615 (GRCm39)	V418A	probably benign	Het
Foxf1	A	T	8: 121,811,430 (GRCm39)	H98L	possibly damaging	Het
Frmd4a	C	CA	2: 4,599,408 (GRCm39)		probably null	Het
Fry	C	A	5: 150,419,847 (GRCm39)	T639K		Het
Fryl	A	G	5: 73,179,843 (GRCm39)		probably null	Het
Gdpd4	A	G	7: 97,607,012 (GRCm39)		probably null	Het
Gpt2	A	G	8: 86,246,145 (GRCm39)	K368R	probably damaging	Het
Hc	A	T	2: 34,881,278 (GRCm39)	V1447E	possibly damaging	Het
Kmt5a	A	G	5: 124,597,982 (GRCm39)	T280A	probably benign	Het
Lrrc4b	G	T	7: 44,111,234 (GRCm39)	V369L	probably benign	Het
Ly6g5c	A	G	17: 35,330,783 (GRCm39)	M102V	probably benign	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mib2	T	C	4: 155,739,267 (GRCm39)	N904S	probably benign	Het
Mug2	G	A	6: 122,056,603 (GRCm39)	V1183I	probably damaging	Het
Nckap1l	C	T	15: 103,390,587 (GRCm39)	T786I	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,174 (GRCm39)	V183A	probably benign	Het
Nod1	A	G	6: 54,921,292 (GRCm39)	L342P	probably damaging	Het
Nop58	T	C	1: 59,740,097 (GRCm39)	V163A	probably damaging	Het
Npr3	C	T	15: 11,895,768 (GRCm39)	G293R	probably null	Het
Obscn	T	A	11: 58,952,253 (GRCm39)	K3939*	probably null	Het
Or4d10c	G	A	19: 12,065,370 (GRCm39)	A262V	probably benign	Het
Or4g16	T	A	2: 111,136,793 (GRCm39)	M81K	probably damaging	Het
Or5k16	A	T	16: 58,736,410 (GRCm39)	M198K	possibly damaging	Het
Or5p76	A	G	7: 108,123,058 (GRCm39)	I33T	probably benign	Het
Or8b12b	T	C	9: 37,684,117 (GRCm39)	L54P	probably damaging	Het
P2ry6	A	G	7: 100,587,784 (GRCm39)	Y192H	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pign	G	A	1: 105,577,092 (GRCm39)	T197I	probably benign	Het
Pirb	A	T	7: 3,716,817 (GRCm39)		probably null	Het
Pkdrej	C	A	15: 85,703,122 (GRCm39)	R938L	possibly damaging	Het
Psg21	A	G	7: 18,381,128 (GRCm39)	*472R	probably null	Het
Rabgap1l	A	T	1: 160,509,654 (GRCm39)	S474R	probably benign	Het
Rrn3	C	T	16: 13,628,375 (GRCm39)	Q519*	probably null	Het
Seh1l	A	T	18: 67,908,188 (GRCm39)	K37*	probably null	Het
Shprh	A	G	10: 11,040,449 (GRCm39)	S641G	probably benign	Het
Slc4a1	T	G	11: 102,243,403 (GRCm39)	S743R	probably damaging	Het
Snx13	C	T	12: 35,174,534 (GRCm39)	R688*	probably null	Het
Tlr11	C	T	14: 50,599,186 (GRCm39)	Q391*	probably null	Het
Tmbim4	A	G	10: 120,053,471 (GRCm39)	H90R	probably benign	Het
Trav8d-1	T	C	14: 53,016,326 (GRCm39)	S71P	possibly damaging	Het
Trbv5	G	A	6: 41,039,617 (GRCm39)	R74Q	probably benign	Het
Tril	A	G	6: 53,795,921 (GRCm39)	S434P	probably benign	Het
Uhmk1	A	G	1: 170,027,570 (GRCm39)	Y376H	probably damaging	Het
Uty	A	G	Y: 1,170,914 (GRCm39)	C317R	probably damaging	Het
Vmp1	C	T	11: 86,476,225 (GRCm39)	C377Y	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr41	T	C	13: 95,142,275 (GRCm39)	S150P	probably damaging	Het
Zfp617	T	A	8: 72,685,864 (GRCm39)	Y65N	probably benign	Het
Zfp800	A	C	6: 28,244,089 (GRCm39)	V292G	probably damaging	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
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
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'- TATACTCTAAGGGAGGTGGGC -3'
(R):5'- ACGCTGACCTGTTTGGATCC -3'

Sequencing Primer
(F):5'- AGAGAGGTGTTCTAGCCCTGAC -3'
(R):5'- CCCCCATGTGATGCTGCTG -3'

Posted On

2019-10-24