Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:G3bp1'

16831

Institutional Source

Beutler Lab

Gene Symbol

G3bp1

Ensembl Gene

ENSMUSG00000018583

Gene Name

G3BP stress granule assembly factor 1

Synonyms

GAP SH3 binding protein

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55360521-55391722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55388867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 360 (N360D)

Ref Sequence

ENSEMBL: ENSMUSP00000018727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018727]

AlphaFold

P97855

Predicted Effect

probably benign
Transcript: ENSMUST00000018727
AA Change: N360D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: N360D

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.8e-35	PFAM
low complexity region	142	167	N/A	INTRINSIC
low complexity region	187	206	N/A	INTRINSIC
low complexity region	211	225	N/A	INTRINSIC
low complexity region	289	305	N/A	INTRINSIC
RRM	339	409	1.49e-13	SMART
low complexity region	419	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185156

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.7%
20x: 65.9%

Validation Efficiency

89% (66/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display perinatal lethality with severe cell death in the nervous system and decreased cell proliferation. Neonates from heterozygous null female mice display increased mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,540 (GRCm39)	C561*	probably null	Het
Ankfn1	A	G	11: 89,282,502 (GRCm39)	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,809,018 (GRCm39)	S634P	probably damaging	Het
Bche	A	T	3: 73,608,654 (GRCm39)	N257K	possibly damaging	Het
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,846,026 (GRCm39)	V59F	unknown	Het
Camkk2	C	T	5: 122,880,261 (GRCm39)	E452K	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,118 (GRCm39)	Y278C	probably damaging	Het
Chd9	A	G	8: 91,660,165 (GRCm39)	H375R	possibly damaging	Het
Entpd7	T	A	19: 43,713,733 (GRCm39)	V364E	probably benign	Het
Epb41l3	A	T	17: 69,560,392 (GRCm39)	D313V	probably damaging	Het
Etv6	G	T	6: 134,225,497 (GRCm39)	E154*	probably null	Het
Fshr	T	G	17: 89,295,885 (GRCm39)	H274P	probably damaging	Het
Gdf11	C	T	10: 128,722,294 (GRCm39)	R187H	probably benign	Het
Gpihbp1	T	A	15: 75,468,982 (GRCm39)	I52N	probably damaging	Het
H1f8	G	T	6: 115,923,934 (GRCm39)		probably benign	Het
Htt	T	C	5: 34,983,422 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,014 (GRCm39)	Q324R	probably benign	Het
Kcng3	A	G	17: 83,895,185 (GRCm39)	L427P	probably damaging	Het
Klk7	T	C	7: 43,461,434 (GRCm39)	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,570,738 (GRCm39)	V50I	probably benign	Het
Lama5	A	T	2: 179,828,899 (GRCm39)		probably benign	Het
Lamtor3	T	A	3: 137,632,711 (GRCm39)		probably benign	Het
Lyplal1	G	A	1: 185,820,763 (GRCm39)	T228I	probably benign	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marchf6	T	C	15: 31,467,880 (GRCm39)	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Morc2b	T	A	17: 33,357,733 (GRCm39)	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,468,273 (GRCm39)	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497 (GRCm38)		probably null	Het
Nobox	A	G	6: 43,281,853 (GRCm39)	C407R	probably benign	Het
Nup58	A	G	14: 60,476,924 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,329 (GRCm39)	S187P	probably benign	Het
Otoa	A	G	7: 120,730,570 (GRCm39)	Y590C	probably benign	Het
Pelp1	A	T	11: 70,284,658 (GRCm39)	V1070E	unknown	Het
Pglyrp3	G	T	3: 91,933,111 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,363,063 (GRCm39)	F189S	probably damaging	Het
Polr2b	T	C	5: 77,482,382 (GRCm39)	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,683,924 (GRCm39)	T3047S	probably damaging	Het
Snx25	A	T	8: 46,491,550 (GRCm39)	W847R	probably damaging	Het
Son	T	C	16: 91,475,043 (GRCm39)	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,721,050 (GRCm39)	N923K	probably damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het
Tnfaip3	A	T	10: 18,881,041 (GRCm39)	V342E	probably damaging	Het
Traf6	A	G	2: 101,527,496 (GRCm39)	I415M	possibly damaging	Het
Trpm1	A	G	7: 63,893,334 (GRCm39)	D1062G	probably damaging	Het
Wdr59	C	T	8: 112,207,239 (GRCm39)		probably benign	Het

Other mutations in G3bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:G3bp1	APN	11	55,386,273 (GRCm39)	nonsense	probably null
silverheels	UTSW	11	55,379,942 (GRCm39)	missense	possibly damaging	0.95
R0113:G3bp1	UTSW	11	55,386,252 (GRCm39)	missense	probably benign	0.00
R0240:G3bp1	UTSW	11	55,382,854 (GRCm39)	missense	probably damaging	1.00
R0240:G3bp1	UTSW	11	55,382,854 (GRCm39)	missense	probably damaging	1.00
R0311:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0312:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0367:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0368:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0454:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0464:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0465:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0466:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0467:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0486:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0487:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0533:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0551:G3bp1	UTSW	11	55,379,969 (GRCm39)	missense	probably benign	0.01
R0689:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R0848:G3bp1	UTSW	11	55,389,452 (GRCm39)	missense	probably damaging	1.00
R2109:G3bp1	UTSW	11	55,379,986 (GRCm39)	missense	probably damaging	0.97
R5129:G3bp1	UTSW	11	55,379,942 (GRCm39)	missense	possibly damaging	0.95
R5439:G3bp1	UTSW	11	55,388,813 (GRCm39)	missense	probably damaging	0.96
R5834:G3bp1	UTSW	11	55,388,766 (GRCm39)	missense	probably benign
R6692:G3bp1	UTSW	11	55,384,335 (GRCm39)	missense	probably benign	0.00
R6925:G3bp1	UTSW	11	55,388,786 (GRCm39)	missense	possibly damaging	0.47
R7091:G3bp1	UTSW	11	55,387,047 (GRCm39)	missense	possibly damaging	0.94
R8348:G3bp1	UTSW	11	55,389,457 (GRCm39)	missense	possibly damaging	0.81
R9375:G3bp1	UTSW	11	55,390,439 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-01-20