Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:G3bp1'

285693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

G3bp1

Ensembl Gene

ENSMUSG00000018583

Gene Name

G3BP stress granule assembly factor 1

Synonyms

GAP SH3 binding protein

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

55360521-55391722 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55386273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 244 (L244*)

Ref Sequence

ENSEMBL: ENSMUSP00000018727 (fasta)

Gene Model

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

AlphaFold

P97855

Predicted Effect

probably null
Transcript: ENSMUST00000018727
AA Change: L244*

SMART Domains

Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: L244*

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

Coding Region Coverage

Validation Efficiency

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
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atcay	A	T	10: 81,046,382 (GRCm39)	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Etfdh	C	T	3: 79,525,700 (GRCm39)	V173I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptk6	C	T	2: 180,838,794 (GRCm39)	V320I	probably damaging	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Reg3a	C	T	6: 78,359,224 (GRCm39)	H75Y	possibly damaging	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Tmem184c	A	G	8: 78,331,441 (GRCm39)	Y103H	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	Het

Other mutations in G3bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16