Mutagenetix > Incidental Mutation

Incidental Mutation 'R5439:G3bp1'

428537

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

043004-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55469685-55504838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55497987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 342 (I342F)

Ref Sequence

ENSEMBL: ENSMUSP00000018727 (fasta)

Gene Model

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

AlphaFold

P97855

Predicted Effect

probably damaging
Transcript: ENSMUST00000018727
AA Change: I342F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: I342F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,042,381	R1897L	possibly damaging	Het
Ablim2	A	G	5: 35,857,826	K461E	probably damaging	Het
Acss3	A	T	10: 106,937,147	Y659*	probably null	Het
Actr8	T	G	14: 29,986,995	L253R	probably damaging	Het
Arid4b	A	G	13: 14,187,696	K915R	probably damaging	Het
C3	T	C	17: 57,204,502	E1560G	probably benign	Het
Cacna1c	A	T	6: 118,654,372	I1013N	probably damaging	Het
Cep83	G	A	10: 94,789,738	R670H	probably benign	Het
Col19a1	T	A	1: 24,293,112	D870V	probably damaging	Het
Ddr2	A	G	1: 170,004,729	V164A	possibly damaging	Het
Donson	A	T	16: 91,679,926	V549E	probably damaging	Het
Egflam	C	T	15: 7,224,663	G824R	probably damaging	Het
Extl3	A	G	14: 65,054,626	F916S	probably damaging	Het
Fam110c	A	G	12: 31,074,407	M123V	unknown	Het
Gm438	A	T	4: 144,778,113	I156N	probably damaging	Het
Golgb1	A	G	16: 36,900,508	N409D	probably benign	Het
Grin2b	C	T	6: 135,736,306	G859D	probably damaging	Het
Hspb1	A	T	5: 135,889,332	T178S	probably benign	Het
Iigp1	A	G	18: 60,390,257	Y149C	probably damaging	Het
Il22	G	T	10: 118,209,461	G159*	probably null	Het
Jcad	T	C	18: 4,675,790	F1184S	probably damaging	Het
Kcnj2	G	T	11: 111,072,231	V150L	probably damaging	Het
Kifc1	C	T	17: 33,886,665	R56Q	probably damaging	Het
Lce1h	A	G	3: 92,763,720	S42P	unknown	Het
Lrp4	C	A	2: 91,497,073	D1471E	probably benign	Het
Lrrc3	C	A	10: 77,901,465	V46L	probably benign	Het
Mcf2l	G	A	8: 12,926,646	A2T	possibly damaging	Het
Med12l	G	A	3: 59,263,213	C1673Y	probably null	Het
Nckap1	T	C	2: 80,512,690	E955G	possibly damaging	Het
Ndufs3	T	A	2: 90,902,346		probably null	Het
Nkx6-1	A	G	5: 101,661,832		probably null	Het
Obscn	C	A	11: 59,000,128	E1713*	probably null	Het
Olfr1335	G	A	4: 118,809,363	T167I	possibly damaging	Het
Olfr134	T	A	17: 38,176,026		probably null	Het
Olfr148	A	G	9: 39,613,620	T18A	probably benign	Het
Olfr1511	A	G	14: 52,390,125	F216S	probably damaging	Het
Olfr429	A	G	1: 174,089,975	R312G	probably benign	Het
Olfr58	A	C	9: 19,783,865	H244P	probably damaging	Het
Olfr893	A	G	9: 38,209,754	T234A	probably benign	Het
Osbpl5	A	G	7: 143,741,696	F10L	possibly damaging	Het
Plvap	A	C	8: 71,511,451	I89S	probably damaging	Het
Ppp2r2a	A	G	14: 67,022,323	V308A	possibly damaging	Het
Ppp2r5e	T	C	12: 75,493,476	S132G	probably benign	Het
Pum3	G	T	19: 27,412,259	Q398K	probably benign	Het
Ralgapa2	T	C	2: 146,342,510	T1526A	probably benign	Het
Sh3tc2	T	A	18: 61,989,633	Y488*	probably null	Het
Spata48	A	T	11: 11,490,244	R8S	possibly damaging	Het
Sqle	A	G	15: 59,330,904	Y537C	probably benign	Het
Sult2a8	T	G	7: 14,425,514	K60T	probably damaging	Het
Tex15	T	C	8: 33,574,171	S1210P	possibly damaging	Het
Thumpd3	A	G	6: 113,066,864		silent	Het
Timeless	A	G	10: 128,241,735	D228G	probably damaging	Het
Trim31	A	T	17: 36,905,905		probably null	Het
Ttc39c	A	T	18: 12,695,371	D196V	possibly damaging	Het
Wbp4	C	A	14: 79,472,397	V133L	possibly damaging	Het
Wdr92	A	G	11: 17,212,031	D23G	possibly damaging	Het
Zfp354c	G	T	11: 50,815,770	D159E	probably benign	Het
Zfp940	C	A	7: 29,845,433	D350Y	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
R0487: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
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'- CCAAGTAAGAGCTCTGGTGAC -3'
(R):5'- TCAGCCCAAAACTCACTGTG -3'

Sequencing Primer
(F):5'- CAAGTAAGAGCTCTGGTGACTTCTAG -3'
(R):5'- CTGTGCCCAGGACTAAACAG -3'

Posted On

2016-09-01