Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Fgg'

350941

Institutional Source

Beutler Lab

Gene Symbol

Fgg

Ensembl Gene

ENSMUSG00000033860

Gene Name

fibrinogen gamma chain

Synonyms

gamma-fibrinogen, 3010002H13Rik

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83007724-83015049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83010090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 142 (N142S)

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: N142S

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

SMART Domains

Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: N142S

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: N142S

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

SMART Domains

Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: N142S

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557 (GRCm38)	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784 (GRCm38)	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033 (GRCm38)	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379 (GRCm38)	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659 (GRCm38)		probably benign	Het
Areg	A	G	5: 91,143,504 (GRCm38)	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523 (GRCm38)	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551 (GRCm38)	G986D	probably benign	Het
Caml	G	T	13: 55,625,142 (GRCm38)	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532 (GRCm38)	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656 (GRCm38)	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601 (GRCm38)	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596 (GRCm38)	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325 (GRCm38)	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724 (GRCm38)	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643 (GRCm38)	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446 (GRCm38)	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869 (GRCm38)		probably null	Het
Dsc2	A	T	18: 20,041,819 (GRCm38)	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068 (GRCm38)	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304 (GRCm38)	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597 (GRCm38)	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323 (GRCm38)	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255 (GRCm38)	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187 (GRCm38)	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611 (GRCm38)	R33G	probably benign	Het
Gba	C	T	3: 89,208,644 (GRCm38)		probably null	Het
Gli2	A	G	1: 118,837,511 (GRCm38)	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993 (GRCm38)	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321 (GRCm38)	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794 (GRCm38)	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795 (GRCm38)	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551 (GRCm38)	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801 (GRCm38)	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614 (GRCm38)	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752 (GRCm38)	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302 (GRCm38)	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469 (GRCm38)	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470 (GRCm38)	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471 (GRCm38)	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191 (GRCm38)	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452 (GRCm38)	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910 (GRCm38)	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708 (GRCm38)	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103 (GRCm38)	Y104D	possibly damaging	Het
Myo1h	C	A	5: 114,351,676 (GRCm38)	H647Q	probably benign	Het
Myo1h	A	G	5: 114,348,379 (GRCm38)	N566S	possibly damaging	Het
Neo1	A	G	9: 58,889,041 (GRCm38)	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022 (GRCm38)	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696 (GRCm38)	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068 (GRCm38)	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065 (GRCm38)	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722 (GRCm38)	K80*	probably null	Het
Orc2	A	T	1: 58,500,309 (GRCm38)	L57*	probably null	Het
Otoa	G	A	7: 121,145,568 (GRCm38)	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219 (GRCm38)	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093 (GRCm38)	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919 (GRCm38)	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752 (GRCm38)	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310 (GRCm38)	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998 (GRCm38)	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836 (GRCm38)	S13*	probably null	Het
Rfng	A	G	11: 120,782,650 (GRCm38)	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425 (GRCm38)	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797 (GRCm38)		probably null	Het
Sirpb1a	T	A	3: 15,417,037 (GRCm38)	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739 (GRCm38)	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575 (GRCm38)	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934 (GRCm38)	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348 (GRCm38)	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709 (GRCm38)	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163 (GRCm38)	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605 (GRCm38)	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708 (GRCm38)	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657 (GRCm38)	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289 (GRCm38)		probably null	Het
Vmn1r83	T	C	7: 12,321,768 (GRCm38)	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655 (GRCm38)	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269 (GRCm38)	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555 (GRCm38)	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682 (GRCm38)	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963 (GRCm38)	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676 (GRCm38)	Y507H	probably damaging	Het

Other mutations in Fgg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Fgg	APN	3	83,014,228 (GRCm38)	missense	possibly damaging	0.67
IGL01713:Fgg	APN	3	83,008,416 (GRCm38)	missense	probably benign	0.20
IGL02288:Fgg	APN	3	83,008,153 (GRCm38)	missense	probably benign	0.11
IGL02994:Fgg	APN	3	83,008,474 (GRCm38)	missense	probably benign
PIT4519001:Fgg	UTSW	3	83,012,939 (GRCm38)	missense	probably damaging	1.00
R1251:Fgg	UTSW	3	83,012,980 (GRCm38)	missense	probably benign	0.03
R2137:Fgg	UTSW	3	83,008,438 (GRCm38)	missense	possibly damaging	0.78
R2400:Fgg	UTSW	3	83,008,187 (GRCm38)	missense	possibly damaging	0.94
R2436:Fgg	UTSW	3	83,014,189 (GRCm38)	missense	possibly damaging	0.94
R3429:Fgg	UTSW	3	83,012,783 (GRCm38)	missense	probably damaging	1.00
R4356:Fgg	UTSW	3	83,012,943 (GRCm38)	missense	probably damaging	1.00
R4612:Fgg	UTSW	3	83,010,090 (GRCm38)	missense	probably damaging	1.00
R4828:Fgg	UTSW	3	83,008,370 (GRCm38)	splice site	probably benign
R4898:Fgg	UTSW	3	83,008,540 (GRCm38)	missense	probably benign	0.02
R4938:Fgg	UTSW	3	83,012,868 (GRCm38)	missense	probably benign	0.00
R4967:Fgg	UTSW	3	83,012,765 (GRCm38)	missense	probably benign	0.33
R5635:Fgg	UTSW	3	83,011,423 (GRCm38)	missense	probably benign	0.07
R5740:Fgg	UTSW	3	83,011,525 (GRCm38)	missense	probably benign	0.01
R6307:Fgg	UTSW	3	83,012,976 (GRCm38)	missense	probably damaging	0.98
R6731:Fgg	UTSW	3	83,012,901 (GRCm38)	missense	probably damaging	1.00
R6936:Fgg	UTSW	3	83,008,420 (GRCm38)	missense	possibly damaging	0.82
R7582:Fgg	UTSW	3	83,014,138 (GRCm38)	missense	probably damaging	1.00
R7769:Fgg	UTSW	3	83,013,126 (GRCm38)	splice site	probably null
R8258:Fgg	UTSW	3	83,010,170 (GRCm38)	nonsense	probably null
R8259:Fgg	UTSW	3	83,010,170 (GRCm38)	nonsense	probably null
R8290:Fgg	UTSW	3	83,012,834 (GRCm38)	missense	probably benign	0.00
R8810:Fgg	UTSW	3	83,013,015 (GRCm38)	missense	probably damaging	0.96
R8826:Fgg	UTSW	3	83,014,318 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAAAGTTGAGACCGCCTGC -3'
(R):5'- TGCACTGCAAGGTGTACAATTG -3'

Sequencing Primer
(F):5'- GATTCTTTTCCCCAAAGCATCAATC -3'
(R):5'- ACAATTGTTTTTATTTTGGCCGTC -3'

Posted On

2015-10-08