Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03009:Rasgrf1'

407707

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 #

IGL03009

Quality Score

Status

Chromosome

Chromosomal Location

89791961-89909030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89873756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 688 (K688N)

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

possibly damaging
Transcript: ENSMUST00000034912
AA Change: K688N

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: K688N

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	C	A	15: 80,836,444 (GRCm39)	S67*	probably null	Het
Arrdc4	A	G	7: 68,389,241 (GRCm39)	V411A	probably damaging	Het
Cnnm2	A	G	19: 46,865,794 (GRCm39)	Y794C	probably damaging	Het
Flt4	G	T	11: 49,517,951 (GRCm39)	K330N	probably benign	Het
Foxs1	T	C	2: 152,774,849 (GRCm39)	H68R	probably damaging	Het
Gm21969	C	T	4: 139,334,965 (GRCm39)	S333L	probably damaging	Het
Gm7008	T	A	12: 40,273,546 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,416,014 (GRCm39)	Y137C	probably damaging	Het
Grwd1	A	G	7: 45,476,561 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,407,047 (GRCm39)	R1421W	probably damaging	Het
Myo5b	A	G	18: 74,894,039 (GRCm39)	T1749A	possibly damaging	Het
Neb	A	G	2: 52,069,468 (GRCm39)		probably benign	Het
Ntng1	T	C	3: 109,842,018 (GRCm39)	K252E	possibly damaging	Het
Nup133	A	G	8: 124,660,239 (GRCm39)	I353T	possibly damaging	Het
Or51ab3	C	A	7: 103,201,734 (GRCm39)	C247*	probably null	Het
Osbpl11	T	C	16: 33,062,100 (GRCm39)		probably benign	Het
Pcsk9	C	T	4: 106,311,542 (GRCm39)	G230S	probably damaging	Het
Polr1b	A	G	2: 128,967,988 (GRCm39)	N1127S	probably damaging	Het
Rhot1	A	G	11: 80,111,080 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,393 (GRCm39)	Q1159L	possibly damaging	Het
Ros1	T	C	10: 52,022,003 (GRCm39)	I594V	probably benign	Het
Slc43a2	G	A	11: 75,463,202 (GRCm39)	C536Y	probably benign	Het
Stip1	A	T	19: 6,998,489 (GRCm39)	V537E	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Vav1	A	T	17: 57,603,582 (GRCm39)	T94S	probably benign	Het
Zfr	A	T	15: 12,162,321 (GRCm39)	I824F	probably damaging	Het

Other mutations in Rasgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Rasgrf1	APN	9	89,852,534 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02