Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:G3bp1'

49333

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

038725-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55360521-55391722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55389452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 383 (F383L)

Ref Sequence

ENSEMBL: ENSMUSP00000018727 (fasta)

Gene Model

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

AlphaFold

P97855

Predicted Effect

probably damaging
Transcript: ENSMUST00000018727
AA Change: F383L

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

SMART Domains

Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: F383L

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

0.8237

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,984,797 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,914,113 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,391,592 (GRCm39)	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,413,408 (GRCm39)	W531R	probably damaging	Het
Ago4	A	G	4: 126,410,653 (GRCm39)	V246A	probably benign	Het
Arid5b	A	T	10: 68,021,863 (GRCm39)	D242E	probably damaging	Het
Arpp21	A	G	9: 111,955,573 (GRCm39)	V522A	probably benign	Het
Atg4b	T	A	1: 93,712,632 (GRCm39)		probably benign	Het
Capn12	T	C	7: 28,587,108 (GRCm39)	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,920,541 (GRCm39)	I360N	probably damaging	Het
Clic3	A	G	2: 25,348,150 (GRCm39)	Y99C	probably damaging	Het
Cux1	T	C	5: 136,336,713 (GRCm39)	E925G	probably damaging	Het
Dnah10	G	A	5: 124,852,314 (GRCm39)		probably null	Het
Dnah17	A	G	11: 118,001,363 (GRCm39)	V860A	possibly damaging	Het
Etv5	C	T	16: 22,254,825 (GRCm39)		probably benign	Het
Fam83a	T	A	15: 57,873,207 (GRCm39)	N345K	probably benign	Het
Gpm6a	A	G	8: 55,508,409 (GRCm39)		probably null	Het
Grid1	T	A	14: 35,031,342 (GRCm39)	Y312N	possibly damaging	Het
Gstm4	T	C	3: 107,950,841 (GRCm39)	N51S	probably benign	Het
Hid1	A	T	11: 115,239,635 (GRCm39)	I765N	probably damaging	Het
Hmmr	A	G	11: 40,600,816 (GRCm39)	V518A	unknown	Het
Itgb6	A	G	2: 60,499,541 (GRCm39)	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,737,948 (GRCm39)	K233E	probably benign	Het
Kif15	A	T	9: 122,838,498 (GRCm39)		probably benign	Het
Klre1	T	C	6: 129,560,156 (GRCm39)	S143P	probably damaging	Het
Krt81	T	C	15: 101,359,270 (GRCm39)	D216G	probably benign	Het
Mctp2	G	T	7: 71,730,570 (GRCm39)	H868Q	probably benign	Het
Morc2b	G	C	17: 33,354,906 (GRCm39)	Y955*	probably null	Het
Myog	A	C	1: 134,218,211 (GRCm39)	N140H	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neil3	A	T	8: 54,091,810 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,321,273 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,591,182 (GRCm39)	L43*	probably null	Het
Or56a3b	G	A	7: 104,771,557 (GRCm39)	V298I	probably benign	Het
Or56b35	A	T	7: 104,963,579 (GRCm39)	M123L	probably benign	Het
Pramel16	A	T	4: 143,677,290 (GRCm39)	D96E	possibly damaging	Het
Pramel23	G	T	4: 143,424,590 (GRCm39)	C284*	probably null	Het
Ptger2	T	A	14: 45,226,439 (GRCm39)	N6K	possibly damaging	Het
Ryr1	T	A	7: 28,778,205 (GRCm39)	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,786,868 (GRCm39)	F397Y	probably damaging	Het
Skint5	A	G	4: 113,685,064 (GRCm39)	V551A	unknown	Het
Slc39a12	A	G	2: 14,405,142 (GRCm39)	T245A	probably benign	Het
Syne1	C	T	10: 5,308,438 (GRCm39)	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,411,855 (GRCm39)	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,760,854 (GRCm39)	T187I	probably benign	Het
Ttll6	G	A	11: 96,045,582 (GRCm39)	A600T	probably benign	Het
Ust	T	C	10: 8,123,844 (GRCm39)		probably benign	Het
Vmn2r71	GT	GTT	7: 85,268,426 (GRCm39)		probably null	Het
Vstm2a	C	T	11: 16,213,041 (GRCm39)	A142V	probably damaging	Het
Wfs1	T	A	5: 37,131,066 (GRCm39)		probably benign	Het
Wrap73	G	A	4: 154,236,106 (GRCm39)	G145D	probably damaging	Het
Wrap73	G	A	4: 154,240,611 (GRCm39)	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,524,352 (GRCm39)		probably null	Het
Zfhx2	C	T	14: 55,301,547 (GRCm39)	V2146I	probably benign	Het
Zfp335	A	T	2: 164,749,842 (GRCm39)	L185*	probably null	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
R0056:G3bp1	UTSW	11	55,388,867 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGACACAATGCCTTGCCCAC -3'
(R):5'- TCCGAGCTGGAAAATGACACTCAAC -3'

Sequencing Primer
(F):5'- CATCTAAGGAGCTTATCATTGAACTC -3'
(R):5'- acaataggtaactccatgtccag -3'

Posted On

2013-06-12