Mutagenetix > Incidental Mutation

Incidental Mutation 'R0487:G3bp1'

42355

Institutional Source

Beutler Lab

Gene Symbol

G3bp1

Ensembl Gene

ENSMUSG00000018583

Gene Name

GTPase activating protein (SH3 domain) binding protein 1

Synonyms

GAP SH3 binding protein

MMRRC Submission

038686-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0487 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

55469685-55504838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55498626 bp (GRCm38)

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: 95.9%
20x: 91.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,331,687	M3190L	probably benign	Het
Adgrv1	A	T	13: 81,489,035	L3429H	probably damaging	Het
Ahnak	A	G	19: 9,007,151	N1933S	probably benign	Het
Ahnak	A	G	19: 9,014,120	D4256G	probably damaging	Het
AI314180	A	G	4: 58,819,155	V1265A	probably damaging	Het
Amacr	A	G	15: 10,984,749	D151G	probably benign	Het
Ano9	A	T	7: 141,107,849	H255Q	possibly damaging	Het
Asphd2	A	T	5: 112,391,635	Y111N	possibly damaging	Het
Cage1	T	A	13: 38,025,358	K214N	probably benign	Het
Cdkn2c	A	G	4: 109,661,409	L116P	probably damaging	Het
Cltc	C	T	11: 86,733,664	R148H	probably damaging	Het
Cmbl	A	G	15: 31,582,030	N58D	probably damaging	Het
Cpa6	T	C	1: 10,409,262	T249A	possibly damaging	Het
Cpsf1	T	A	15: 76,597,002	N1218I	probably damaging	Het
Csf2rb	T	C	15: 78,348,331	S613P	probably benign	Het
Ctnnd1	A	G	2: 84,609,067	S761P	probably damaging	Het
Cxcr6	A	C	9: 123,810,398	I155L	probably benign	Het
Fam216a	A	G	5: 122,370,513		probably null	Het
Fgf10	T	A	13: 118,781,611		probably null	Het
Fgf17	T	C	14: 70,638,556	T79A	probably damaging	Het
Gm1527	G	T	3: 28,926,679	V643L	probably benign	Het
Gm7534	A	T	4: 134,202,778	L72Q	probably damaging	Het
Hmcn2	A	T	2: 31,386,677	Q1556L	possibly damaging	Het
Hrasls	G	A	16: 29,220,579		probably null	Het
Hspa4l	C	T	3: 40,784,326	T616I	possibly damaging	Het
Irgm1	T	C	11: 48,866,327	D219G	probably damaging	Het
Jcad	A	G	18: 4,673,243	D335G	probably damaging	Het
Kcnh4	A	G	11: 100,750,258	F455S	probably damaging	Het
Khdrbs3	T	C	15: 69,017,361	Y120H	probably damaging	Het
Kndc1	A	T	7: 139,914,023	T507S	probably null	Het
Lepr	G	T	4: 101,768,093	E482*	probably null	Het
Lrmp	A	G	6: 145,165,260	S264G	probably benign	Het
Mcemp1	T	A	8: 3,667,507	M146K	probably benign	Het
Mllt10	A	G	2: 18,207,137	T411A	probably damaging	Het
Myh8	A	T	11: 67,302,011	I1543L	probably benign	Het
Myo1f	T	C	17: 33,578,284	S147P	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Olfr1106	C	T	2: 87,048,493	V248I	probably damaging	Het
Plch2	G	A	4: 155,009,012	R57C	probably damaging	Het
Rbm20	G	A	19: 53,851,195	G872R	probably damaging	Het
Retsat	A	T	6: 72,606,431	I373F	probably damaging	Het
Rnf145	T	C	11: 44,555,229	F297L	probably benign	Het
Ros1	A	T	10: 52,155,108	M479K	possibly damaging	Het
Rubcnl	T	A	14: 75,036,081	N244K	probably benign	Het
Samhd1	A	G	2: 157,110,615	F406L	probably damaging	Het
Sdsl	A	T	5: 120,459,468	V258D	probably damaging	Het
Sec24c	C	G	14: 20,683,399	P166A	probably benign	Het
Sele	C	A	1: 164,053,615	Y461*	probably null	Het
Slc22a1	G	T	17: 12,662,600	S334*	probably null	Het
Spem1	T	G	11: 69,821,865		probably null	Het
Stat3	T	C	11: 100,903,643	E280G	probably damaging	Het
Stxbp4	T	C	11: 90,592,360	H280R	probably benign	Het
Tas2r129	T	G	6: 132,951,944	C281W	probably benign	Het
Tas2r129	G	A	6: 132,951,943	C281Y	probably benign	Het
Tcp11	T	A	17: 28,079,923		probably null	Het
Tnrc6b	G	A	15: 80,880,675	V793M	probably benign	Het
Vmn2r59	A	C	7: 42,047,104	Y71*	probably null	Het
Wdr35	T	C	12: 9,012,743		probably null	Het
Zan	A	G	5: 137,413,358		probably null	Het
Zap70	G	T	1: 36,779,284	V351L	probably damaging	Het
Zfp609	G	T	9: 65,702,634	Q1016K	unknown	Het
Zfp641	C	A	15: 98,289,179	V188L	probably benign	Het

Other mutations in G3bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:G3bp1	APN	11	55,495,447 (GRCm38)	nonsense	probably null
silverheels	UTSW	11	55,489,116 (GRCm38)	missense	possibly damaging	0.95
R0056:G3bp1	UTSW	11	55,498,041 (GRCm38)	missense	probably benign	0.03
R0113:G3bp1	UTSW	11	55,495,426 (GRCm38)	missense	probably benign	0.00
R0240:G3bp1	UTSW	11	55,492,028 (GRCm38)	missense	probably damaging	1.00
R0240:G3bp1	UTSW	11	55,492,028 (GRCm38)	missense	probably damaging	1.00
R0311:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0312:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0367:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0368:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0454:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0464:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0465:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0466:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0467:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0486:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0533:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0551:G3bp1	UTSW	11	55,489,143 (GRCm38)	missense	probably benign	0.01
R0689:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R0848:G3bp1	UTSW	11	55,498,626 (GRCm38)	missense	probably damaging	1.00
R2109:G3bp1	UTSW	11	55,489,160 (GRCm38)	missense	probably damaging	0.97
R5129:G3bp1	UTSW	11	55,489,116 (GRCm38)	missense	possibly damaging	0.95
R5439:G3bp1	UTSW	11	55,497,987 (GRCm38)	missense	probably damaging	0.96
R5834:G3bp1	UTSW	11	55,497,940 (GRCm38)	missense	probably benign
R6692:G3bp1	UTSW	11	55,493,509 (GRCm38)	missense	probably benign	0.00
R6925:G3bp1	UTSW	11	55,497,960 (GRCm38)	missense	possibly damaging	0.47
R7091:G3bp1	UTSW	11	55,496,221 (GRCm38)	missense	possibly damaging	0.94
R8348:G3bp1	UTSW	11	55,498,631 (GRCm38)	missense	possibly damaging	0.81
R9375:G3bp1	UTSW	11	55,499,613 (GRCm38)	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

2013-05-23