Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Fgg'

555098

Institutional Source

Beutler Lab

Gene Symbol

Fgg

Ensembl Gene

ENSMUSG00000033860

Gene Name

fibrinogen gamma chain

Synonyms

3010002H13Rik, gamma-fibrinogen

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82915031-82922356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82920246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 342 (N342Y)

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: N342Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: N342Y

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: N342Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: N342Y

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: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	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
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
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'- ACTATGCCATGTTCAGGGTGG -3'
(R):5'- ATGCCAGTTGGATAATGAGTGG -3'

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

Posted On

2019-06-07