Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00517:Rasgrf1'

13763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgrf1

Ensembl Gene

ENSMUSG00000032356

Gene Name

RAS protein-specific guanine nucleotide-releasing factor 1

Synonyms

Grf1, CDC25Mm, Grfbeta, CDC25

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00517

Quality Score

Status

Chromosome

Chromosomal Location

89791961-89909030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89852534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 367 (Y367H)

Ref Sequence

ENSEMBL: ENSMUSP00000034912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034912]

AlphaFold

P27671

PDB Structure

Crystal Structure of the Cdc25 domain of RasGRF1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034912
AA Change: Y367H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: Y367H

Domain	Start	End	E-Value	Type
PH	23	132	2.48e-18	SMART
Blast:RhoGEF	146	196	4e-6	BLAST
IQ	205	227	5.27e0	SMART
RhoGEF	248	429	1.96e-57	SMART
PH	461	590	1.51e-8	SMART
RasGEFN	634	767	3.07e-10	SMART
low complexity region	844	855	N/A	INTRINSIC
RasGEFN	869	997	5.86e-7	SMART
RasGEF	1023	1260	1.85e-99	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	C	T	7: 101,037,256 (GRCm39)	R180W	probably damaging	Het
Atg4a	T	A	X: 139,945,488 (GRCm39)	M345K	probably damaging	Het
Cacna1s	T	C	1: 136,015,077 (GRCm39)	V408A	probably damaging	Het
Ccdc141	C	T	2: 76,884,988 (GRCm39)	G551D	probably damaging	Het
Cdh2	A	C	18: 16,760,693 (GRCm39)	V558G	possibly damaging	Het
Col9a1	T	A	1: 24,234,615 (GRCm39)		probably benign	Het
Fbxo15	T	A	18: 84,977,225 (GRCm39)	F46I	probably damaging	Het
Gdpd4	T	C	7: 97,653,478 (GRCm39)	I497T	probably damaging	Het
Gtf2f2	A	G	14: 76,232,941 (GRCm39)	V75A	probably benign	Het
Hpse	T	C	5: 100,839,196 (GRCm39)	H384R	possibly damaging	Het
Lama2	T	A	10: 27,073,326 (GRCm39)	T1044S	probably benign	Het
Lamp2	T	C	X: 37,545,186 (GRCm39)		probably benign	Het
Lipe	C	A	7: 25,087,985 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,933,606 (GRCm39)	E1594G	possibly damaging	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Patj	G	T	4: 98,329,308 (GRCm39)	V521F	possibly damaging	Het
Prkg1	A	T	19: 30,872,068 (GRCm39)	D242E	probably benign	Het
Qsox2	T	C	2: 26,112,267 (GRCm39)	I92V	probably benign	Het
Rpl21-ps4	T	C	14: 11,227,544 (GRCm38)		noncoding transcript	Het
Sigirr	T	C	7: 140,672,147 (GRCm39)	E266G	probably benign	Het
Slitrk6	T	C	14: 110,988,547 (GRCm39)	T387A	probably benign	Het
Smim22	T	C	16: 4,825,860 (GRCm39)	L54P	probably damaging	Het
Taf4	G	A	2: 179,566,206 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,259,967 (GRCm39)	V363A	possibly damaging	Het
Zswim3	T	C	2: 164,663,011 (GRCm39)	L497S	probably damaging	Het

Other mutations in Rasgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Rasgrf1	APN	9	89,853,073 (GRCm39)	missense	probably benign	0.05
IGL01336:Rasgrf1	APN	9	89,873,583 (GRCm39)	missense	probably benign	0.00
IGL01710:Rasgrf1	APN	9	89,873,745 (GRCm39)	missense	probably benign	0.18
IGL01807:Rasgrf1	APN	9	89,873,566 (GRCm39)	missense	probably damaging	0.99
IGL01939:Rasgrf1	APN	9	89,856,889 (GRCm39)	missense	probably damaging	0.99
IGL02453:Rasgrf1	APN	9	89,826,813 (GRCm39)	missense	possibly damaging	0.76
IGL02961:Rasgrf1	APN	9	89,863,702 (GRCm39)	missense	possibly damaging	0.88
IGL03009:Rasgrf1	APN	9	89,873,756 (GRCm39)	missense	possibly damaging	0.75
IGL03369:Rasgrf1	APN	9	89,892,504 (GRCm39)	missense	probably damaging	1.00
IGL03373:Rasgrf1	APN	9	89,899,084 (GRCm39)	splice site	probably benign
Malenkiy	UTSW	9	89,892,537 (GRCm39)	splice site	probably null
Pigeon	UTSW	9	89,849,968 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Rasgrf1	UTSW	9	89,797,626 (GRCm39)	missense	possibly damaging	0.91
R0234:Rasgrf1	UTSW	9	89,891,419 (GRCm39)	missense	probably damaging	1.00
R0629:Rasgrf1	UTSW	9	89,866,322 (GRCm39)	missense	probably damaging	1.00
R0685:Rasgrf1	UTSW	9	89,797,535 (GRCm39)	utr 3 prime	probably benign
R0730:Rasgrf1	UTSW	9	89,833,062 (GRCm39)	splice site	probably benign
R0835:Rasgrf1	UTSW	9	89,882,824 (GRCm39)	missense	probably benign
R1432:Rasgrf1	UTSW	9	89,894,853 (GRCm39)	missense	probably benign	0.35
R1647:Rasgrf1	UTSW	9	89,835,973 (GRCm39)	missense	probably benign	0.28
R1717:Rasgrf1	UTSW	9	89,835,966 (GRCm39)	missense	probably damaging	0.98
R1933:Rasgrf1	UTSW	9	89,835,966 (GRCm39)	missense	probably damaging	0.98
R1934:Rasgrf1	UTSW	9	89,835,966 (GRCm39)	missense	probably damaging	0.98
R2187:Rasgrf1	UTSW	9	89,876,888 (GRCm39)	missense	possibly damaging	0.93
R2240:Rasgrf1	UTSW	9	89,858,815 (GRCm39)	missense	probably damaging	0.99
R2940:Rasgrf1	UTSW	9	89,873,767 (GRCm39)	missense	possibly damaging	0.84
R3949:Rasgrf1	UTSW	9	89,863,797 (GRCm39)	splice site	probably benign
R4751:Rasgrf1	UTSW	9	89,894,919 (GRCm39)	missense	probably damaging	1.00
R4751:Rasgrf1	UTSW	9	89,792,171 (GRCm39)	missense	probably damaging	1.00
R4901:Rasgrf1	UTSW	9	89,877,056 (GRCm39)	missense	probably benign	0.00
R4910:Rasgrf1	UTSW	9	89,858,805 (GRCm39)	missense	probably benign	0.00
R4961:Rasgrf1	UTSW	9	89,826,922 (GRCm39)	missense	probably benign	0.06
R5270:Rasgrf1	UTSW	9	89,908,747 (GRCm39)	missense	probably benign	0.00
R5320:Rasgrf1	UTSW	9	89,902,478 (GRCm39)	missense	probably damaging	0.99
R5602:Rasgrf1	UTSW	9	89,793,624 (GRCm39)	missense	possibly damaging	0.73
R5659:Rasgrf1	UTSW	9	89,866,342 (GRCm39)	missense	probably damaging	1.00
R5960:Rasgrf1	UTSW	9	89,903,437 (GRCm39)	missense	possibly damaging	0.69
R6074:Rasgrf1	UTSW	9	89,835,968 (GRCm39)	missense	probably benign	0.01
R6400:Rasgrf1	UTSW	9	89,873,683 (GRCm39)	missense	probably damaging	1.00
R6596:Rasgrf1	UTSW	9	89,894,847 (GRCm39)	missense	possibly damaging	0.92
R6603:Rasgrf1	UTSW	9	89,792,310 (GRCm39)	missense	probably damaging	0.96
R6647:Rasgrf1	UTSW	9	89,892,516 (GRCm39)	missense	probably benign	0.00
R6813:Rasgrf1	UTSW	9	89,892,537 (GRCm39)	splice site	probably null
R7136:Rasgrf1	UTSW	9	89,873,651 (GRCm39)	missense	probably damaging	1.00
R7155:Rasgrf1	UTSW	9	89,884,414 (GRCm39)	missense	possibly damaging	0.90
R7175:Rasgrf1	UTSW	9	89,862,802 (GRCm39)	missense	probably benign	0.02
R7202:Rasgrf1	UTSW	9	89,899,125 (GRCm39)	missense	possibly damaging	0.49
R7219:Rasgrf1	UTSW	9	89,866,341 (GRCm39)	missense	probably damaging	1.00
R7244:Rasgrf1	UTSW	9	89,876,810 (GRCm39)	missense	probably damaging	1.00
R7733:Rasgrf1	UTSW	9	89,863,780 (GRCm39)	missense	probably benign	0.01
R7764:Rasgrf1	UTSW	9	89,876,747 (GRCm39)	missense	possibly damaging	0.94
R8210:Rasgrf1	UTSW	9	89,793,675 (GRCm39)	missense	unknown
R8421:Rasgrf1	UTSW	9	89,849,968 (GRCm39)	missense	probably damaging	1.00
R8524:Rasgrf1	UTSW	9	89,797,638 (GRCm39)	missense	possibly damaging	0.53
R8526:Rasgrf1	UTSW	9	89,856,901 (GRCm39)	missense	probably damaging	0.96
R8697:Rasgrf1	UTSW	9	89,877,055 (GRCm39)	missense	probably benign
R9133:Rasgrf1	UTSW	9	89,793,600 (GRCm39)	missense	probably benign
R9153:Rasgrf1	UTSW	9	89,826,790 (GRCm39)	missense	probably damaging	1.00
R9191:Rasgrf1	UTSW	9	89,883,923 (GRCm39)	missense	probably damaging	1.00
R9349:Rasgrf1	UTSW	9	89,884,460 (GRCm39)	missense	probably damaging	0.99
R9468:Rasgrf1	UTSW	9	89,880,756 (GRCm39)	missense	probably benign	0.00
R9498:Rasgrf1	UTSW	9	89,826,921 (GRCm39)	missense	probably benign
R9747:Rasgrf1	UTSW	9	89,877,047 (GRCm39)	missense	probably benign
R9779:Rasgrf1	UTSW	9	89,873,551 (GRCm39)	missense	probably damaging	0.99
Z1177:Rasgrf1	UTSW	9	89,832,970 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06