Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Rasgrf1'

486941

Institutional Source

Beutler Lab

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 #

PIT4142001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89791961-89909030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89797626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 168 (R168H)

Ref Sequence

ENSEMBL: ENSMUSP00000034909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034909] [ENSMUST00000034912] [ENSMUST00000189545]

AlphaFold

P27671

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034909
AA Change: R168H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034909
Gene: ENSMUSG00000032356
AA Change: R168H

Domain	Start	End	E-Value	Type
PH	23	143	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034912

SMART Domains

Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189545

SMART Domains

Protein: ENSMUSP00000140921
Gene: ENSMUSG00000032356

Domain	Start	End	E-Value	Type
PH	23	143	3.1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190073

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Sap130	T	C	18: 31,800,064 (GRCm39)		probably null	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,555,134 (GRCm39)	S29T	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Trp63	C	T	16: 25,684,013 (GRCm39)	T300I	probably damaging	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	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
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
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

Predicted Primers

Posted On

2017-09-21