Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:G3bp1'

394916

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

042717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55469685-55504838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55489116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

Ref Sequence

ENSEMBL: ENSMUSP00000018727 (fasta)

Gene Model

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

AlphaFold

P97855

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018727
AA Change: V92A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018727
Gene: ENSMUSG00000018583
AA Change: V92A

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: ENSMUST00000151790

Meta Mutation Damage Score

0.2754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

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
4930432E11Rik	A	G	7: 29,561,361 (GRCm38)		noncoding transcript	Het
Abcf1	C	T	17: 35,960,795 (GRCm38)		probably benign	Het
Adamts14	T	A	10: 61,249,618 (GRCm38)	D209V	probably benign	Het
Aldh3b1	A	G	19: 3,915,336 (GRCm38)	F392L	probably benign	Het
Atp1a2	A	T	1: 172,275,955 (GRCm38)	D999E	probably benign	Het
Capn7	T	C	14: 31,344,511 (GRCm38)	V94A	probably damaging	Het
Cdh13	A	G	8: 119,095,215 (GRCm38)	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,379,090 (GRCm38)	G844D	probably damaging	Het
Col6a4	T	C	9: 106,013,377 (GRCm38)	E1906G	probably damaging	Het
Daw1	T	C	1: 83,205,903 (GRCm38)	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,517,340 (GRCm38)	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,179,580 (GRCm38)	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,509,281 (GRCm38)	Y425F	possibly damaging	Het
Fam43b	A	T	4: 138,395,472 (GRCm38)	L179*	probably null	Het
Fbxw28	A	G	9: 109,326,603 (GRCm38)	L314P	probably damaging	Het
Fstl4	C	A	11: 53,186,439 (GRCm38)	D674E	probably damaging	Het
Gm3604	A	T	13: 62,369,774 (GRCm38)	Y257N	probably benign	Het
Gm5415	T	A	1: 32,545,480 (GRCm38)	R450W	probably damaging	Het
Gm5415	C	A	1: 32,545,479 (GRCm38)	R450M	probably damaging	Het
Gm5900	A	G	7: 104,950,016 (GRCm38)		noncoding transcript	Het
Hectd4	G	A	5: 121,343,510 (GRCm38)	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,130,864 (GRCm38)	K1069E	probably damaging	Het
Hlf	T	C	11: 90,390,252 (GRCm38)	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,801,134 (GRCm38)	C18*	probably null	Het
Kdm5a	T	C	6: 120,405,022 (GRCm38)	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,388,548 (GRCm38)	Y1211C	probably damaging	Het
Krt78	C	A	15: 101,947,580 (GRCm38)	V599L	possibly damaging	Het
Mroh9	C	G	1: 163,060,760 (GRCm38)	G249R	probably damaging	Het
Nbas	T	C	12: 13,390,960 (GRCm38)	L1097P	probably damaging	Het
Nf2	A	C	11: 4,816,145 (GRCm38)	D87E	probably benign	Het
Olfr113	T	C	17: 37,575,180 (GRCm38)	Y81C	probably damaging	Het
Olfr961	T	A	9: 39,647,494 (GRCm38)	I256N	probably benign	Het
Ppil3	A	G	1: 58,440,833 (GRCm38)		probably benign	Het
Prrc2a	T	C	17: 35,160,178 (GRCm38)	E276G	unknown	Het
Spata16	A	G	3: 26,667,564 (GRCm38)	E78G	probably damaging	Het
Tlr3	A	T	8: 45,402,981 (GRCm38)	I54K	probably damaging	Het
Tmem72	A	G	6: 116,702,013 (GRCm38)	L34P	probably damaging	Het
Triobp	A	G	15: 78,961,096 (GRCm38)	R213G	probably benign	Het
Tyrp1	T	A	4: 80,846,607 (GRCm38)	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,075,221 (GRCm38)	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592 (GRCm38)	T484A	probably benign	Het
Vcan	T	C	13: 89,690,240 (GRCm38)	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,503,116 (GRCm38)	I273N	probably damaging	Het
Zfp451	C	T	1: 33,802,933 (GRCm38)		probably benign	Het
Zfp457	T	C	13: 67,293,356 (GRCm38)	E385G	probably benign	Het
Zfp74	C	T	7: 29,932,455 (GRCm38)	M121I	probably benign	Het
Zfp866	A	T	8: 69,767,709 (GRCm38)		probably null	Het
Zfp874a	A	T	13: 67,442,981 (GRCm38)	C195S	probably damaging	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
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'- GAGGATCTGCCAGTCTGTTC -3'
(R):5'- GCACCACAGCTTTAGGACAAG -3'

Sequencing Primer
(F):5'- CTGTTCTTGGTGCTGGCAAC -3'
(R):5'- GACAGAGCAGCTCTACCCTG -3'

Posted On

2016-06-21