Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Rgl1'

352219

Institutional Source

Beutler Lab

Gene Symbol

Rgl1

Ensembl Gene

ENSMUSG00000026482

Gene Name

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms

Rgl

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152392513-152642089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 152397122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 716 (R716S)

Ref Sequence

ENSEMBL: ENSMUSP00000107490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027760] [ENSMUST00000111857] [ENSMUST00000111859]

AlphaFold

Q60695

Predicted Effect

probably damaging
Transcript: ENSMUST00000027760
AA Change: R681S

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

SMART Domains

Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: R681S

Domain	Start	End	E-Value	Type
RasGEFN	64	196	5.86e-39	SMART
RasGEF	228	502	9.56e-116	SMART
Blast:RasGEF	522	582	6e-8	BLAST
low complexity region	585	596	N/A	INTRINSIC
low complexity region	627	637	N/A	INTRINSIC
RA	648	735	1.7e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111857
AA Change: R679S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: R679S

Domain	Start	End	E-Value	Type
RasGEFN	62	194	5.86e-39	SMART
RasGEF	226	500	9.56e-116	SMART
Blast:RasGEF	520	580	7e-8	BLAST
low complexity region	583	594	N/A	INTRINSIC
low complexity region	625	635	N/A	INTRINSIC
RA	646	733	1.7e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111859
AA Change: R716S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: R716S

Domain	Start	End	E-Value	Type
RasGEFN	99	231	5.86e-39	SMART
RasGEF	263	537	9.56e-116	SMART
Blast:RasGEF	557	617	6e-8	BLAST
low complexity region	620	631	N/A	INTRINSIC
low complexity region	662	672	N/A	INTRINSIC
RA	683	770	1.7e-25	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Ras-like (Ral) -selective guanine nucleotide exchange factor (RalGEF) family of small GTPase activators which function both as downstream effectors of activated Ras GTPase and as regulators of certain Ral GTPases in the RalGEF - Ral GTPase signaling pathway. The encoded protein, like other RalGEFs, has an N-terminal ras exchanger motif domain, a catalytic CDC25 homology domain, and a C-terminal ras binding domain that stimulates guanine nucleotide exchange when bound to a Ral GTPase. RalGEF family members bridge the Ras and Ral signaling pathways and are thought to play a role in oncogenic transformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acan	A	G	7: 78,750,890 (GRCm39)	E464G	probably benign	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,552,343 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,129,307 (GRCm39)	D217G	probably benign	Het
Arl2	C	A	19: 6,184,716 (GRCm39)	R179L	probably damaging	Het
Atg2a	T	A	19: 6,309,017 (GRCm39)		probably null	Het
B3gat1	T	A	9: 26,663,052 (GRCm39)	L6Q	probably benign	Het
Bcl10	A	G	3: 145,636,327 (GRCm39)	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Brms1l	A	G	12: 55,888,356 (GRCm39)	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,226,322 (GRCm39)	N414K	possibly damaging	Het
Capn2	C	T	1: 182,298,345 (GRCm39)	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,157,021 (GRCm39)	R99M	probably damaging	Het
Ccdc51	A	G	9: 108,920,030 (GRCm39)	N142S	probably benign	Het
Cdipt	A	G	7: 126,577,578 (GRCm39)	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cts3	C	T	13: 61,714,637 (GRCm39)	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,637,280 (GRCm39)	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,632,098 (GRCm39)	H90L	probably benign	Het
Ddx4	T	C	13: 112,758,778 (GRCm39)	Y261C	probably damaging	Het
Dnah17	T	C	11: 117,965,119 (GRCm39)	T2308A	probably benign	Het
Dnah6	T	C	6: 73,014,671 (GRCm39)	T3587A	probably damaging	Het
Dpy19l1	C	T	9: 24,343,664 (GRCm39)	V494I	possibly damaging	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,752,717 (GRCm39)	I78V	probably benign	Het
Esam	T	A	9: 37,447,952 (GRCm39)	Y195*	probably null	Het
Extl3	T	A	14: 65,313,745 (GRCm39)	N479I	possibly damaging	Het
Fat2	A	G	11: 55,202,441 (GRCm39)	V211A	probably benign	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gnmt	A	T	17: 47,037,225 (GRCm39)	C186*	probably null	Het
Gpr75	A	T	11: 30,842,072 (GRCm39)	I326F	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T23	G	T	17: 36,342,690 (GRCm39)	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Irf9	C	A	14: 55,843,223 (GRCm39)	H94N	probably benign	Het
Jhy	T	C	9: 40,872,449 (GRCm39)	N20S	probably benign	Het
Klf17	C	A	4: 117,617,568 (GRCm39)	C263F	probably damaging	Het
Lama5	T	C	2: 179,822,430 (GRCm39)	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,044,953 (GRCm39)	I882S	probably damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Mael	T	C	1: 166,063,077 (GRCm39)	E125G	probably damaging	Het
Mib2	C	T	4: 155,741,872 (GRCm39)	D275N	possibly damaging	Het
Mical3	C	T	6: 120,934,664 (GRCm39)	R1805Q	probably damaging	Het
Mix23	A	G	16: 35,903,089 (GRCm39)	D27G	probably damaging	Het
Mllt10	A	G	2: 18,208,444 (GRCm39)	D158G	probably damaging	Het
Mocs1	A	G	17: 49,761,613 (GRCm39)	D569G	possibly damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,707,260 (GRCm39)	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,029,675 (GRCm39)	V164A	probably benign	Het
Nek9	T	C	12: 85,360,978 (GRCm39)	E518G	probably benign	Het
Nfatc2	T	C	2: 168,413,410 (GRCm39)	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,074,793 (GRCm39)	A746T	possibly damaging	Het
Nup42	A	G	5: 24,387,415 (GRCm39)	R402G	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Or3a1d	A	G	11: 74,237,789 (GRCm39)	V207A	probably benign	Het
Or4c120	G	A	2: 89,001,245 (GRCm39)	H104Y	probably damaging	Het
Or8b35	A	T	9: 37,904,381 (GRCm39)	I198F	possibly damaging	Het
Or8g17	T	A	9: 38,930,675 (GRCm39)	Y54F	probably benign	Het
Or8j3	A	T	2: 86,028,277 (GRCm39)	M273K	possibly damaging	Het
Otof	A	G	5: 30,578,318 (GRCm39)		probably null	Het
Pcdhb17	T	C	18: 37,619,259 (GRCm39)	S350P	probably damaging	Het
Phf3	T	C	1: 30,869,027 (GRCm39)	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,001,517 (GRCm39)	E465G	probably damaging	Het
Prkg1	T	A	19: 31,641,639 (GRCm39)	I15F	probably damaging	Het
Rab5c	A	G	11: 100,610,843 (GRCm39)	F22L	probably damaging	Het
Raf1	A	G	6: 115,609,880 (GRCm39)	S220P	probably damaging	Het
Rhbg	C	A	3: 88,153,273 (GRCm39)	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,027,053 (GRCm39)	E159G	possibly damaging	Het
Ryr1	T	C	7: 28,759,256 (GRCm39)	D3338G	probably null	Het
Sash1	T	C	10: 8,606,149 (GRCm39)	N747S	probably benign	Het
Serpina3g	A	T	12: 104,205,479 (GRCm39)	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,574,213 (GRCm39)	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,184,640 (GRCm39)	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,649,965 (GRCm39)	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,561,772 (GRCm39)	Y164H	probably benign	Het
Snx9	A	G	17: 5,977,499 (GRCm39)	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,459 (GRCm39)	V704A	probably benign	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Strap	C	A	6: 137,712,384 (GRCm39)	S11*	probably null	Het
Synpo2	A	G	3: 122,906,712 (GRCm39)	L868P	probably damaging	Het
Tenm2	A	G	11: 35,901,314 (GRCm39)	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Tmf1	A	T	6: 97,147,388 (GRCm39)	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,525,068 (GRCm39)	I576V	probably benign	Het
Upk1a	T	G	7: 30,304,554 (GRCm39)	T193P	probably benign	Het
Vmn2r67	A	T	7: 84,799,732 (GRCm39)	V502E	probably benign	Het
Wdr17	A	G	8: 55,143,083 (GRCm39)	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,236,153 (GRCm39)	S161C	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het
Zfp605	T	A	5: 110,275,227 (GRCm39)	M115K	possibly damaging	Het
Zp1	T	A	19: 10,896,269 (GRCm39)	H152L	probably benign	Het

Other mutations in Rgl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Rgl1	APN	1	152,447,368 (GRCm39)	missense	probably benign	0.02
IGL01065:Rgl1	APN	1	152,394,893 (GRCm39)	missense	probably damaging	1.00
IGL01390:Rgl1	APN	1	152,447,339 (GRCm39)	splice site	probably benign
IGL01726:Rgl1	APN	1	152,394,904 (GRCm39)	missense	probably damaging	1.00
IGL01837:Rgl1	APN	1	152,424,901 (GRCm39)	missense	probably damaging	1.00
IGL02019:Rgl1	APN	1	152,404,220 (GRCm39)	splice site	probably benign
IGL02369:Rgl1	APN	1	152,409,357 (GRCm39)	missense	probably damaging	1.00
R0240:Rgl1	UTSW	1	152,430,175 (GRCm39)	unclassified	probably benign
R0255:Rgl1	UTSW	1	152,428,347 (GRCm39)	missense	probably damaging	1.00
R0562:Rgl1	UTSW	1	152,415,696 (GRCm39)	missense	probably damaging	1.00
R0648:Rgl1	UTSW	1	152,412,016 (GRCm39)	critical splice donor site	probably null
R0734:Rgl1	UTSW	1	152,430,051 (GRCm39)	missense	probably damaging	0.98
R1187:Rgl1	UTSW	1	152,420,184 (GRCm39)	missense	probably benign	0.14
R1522:Rgl1	UTSW	1	152,462,284 (GRCm39)	missense	probably damaging	1.00
R1595:Rgl1	UTSW	1	152,550,774 (GRCm39)	splice site	probably benign
R1634:Rgl1	UTSW	1	152,400,523 (GRCm39)	missense	probably damaging	1.00
R1661:Rgl1	UTSW	1	152,409,326 (GRCm39)	missense	probably damaging	0.99
R1665:Rgl1	UTSW	1	152,409,326 (GRCm39)	missense	probably damaging	0.99
R1964:Rgl1	UTSW	1	152,424,855 (GRCm39)	missense	probably damaging	1.00
R2291:Rgl1	UTSW	1	152,412,032 (GRCm39)	missense	probably damaging	1.00
R4272:Rgl1	UTSW	1	152,412,040 (GRCm39)	missense	probably benign	0.13
R4668:Rgl1	UTSW	1	152,397,122 (GRCm39)	missense	probably damaging	1.00
R4747:Rgl1	UTSW	1	152,400,450 (GRCm39)	nonsense	probably null
R4830:Rgl1	UTSW	1	152,430,081 (GRCm39)	missense	probably benign	0.11
R4853:Rgl1	UTSW	1	152,433,325 (GRCm39)	missense	probably benign	0.07
R4969:Rgl1	UTSW	1	152,424,813 (GRCm39)	splice site	probably null
R5778:Rgl1	UTSW	1	152,428,172 (GRCm39)	missense	probably benign	0.05
R5979:Rgl1	UTSW	1	152,433,244 (GRCm39)	missense	probably damaging	1.00
R6180:Rgl1	UTSW	1	152,394,923 (GRCm39)	missense	probably damaging	1.00
R6183:Rgl1	UTSW	1	152,462,321 (GRCm39)	missense	possibly damaging	0.94
R6322:Rgl1	UTSW	1	152,428,186 (GRCm39)	missense	probably damaging	0.98
R6678:Rgl1	UTSW	1	152,400,475 (GRCm39)	missense	probably damaging	1.00
R6759:Rgl1	UTSW	1	152,409,281 (GRCm39)	missense	probably damaging	0.99
R6892:Rgl1	UTSW	1	152,415,691 (GRCm39)	missense	probably benign	0.00
R7290:Rgl1	UTSW	1	152,420,146 (GRCm39)	missense	possibly damaging	0.78
R7363:Rgl1	UTSW	1	152,394,914 (GRCm39)	missense	probably damaging	1.00
R7610:Rgl1	UTSW	1	152,428,371 (GRCm39)	missense	probably damaging	1.00
R7774:Rgl1	UTSW	1	152,430,101 (GRCm39)	missense	probably benign
R8140:Rgl1	UTSW	1	152,433,252 (GRCm39)	missense	probably damaging	1.00
R9188:Rgl1	UTSW	1	152,394,922 (GRCm39)	missense	probably damaging	1.00
R9190:Rgl1	UTSW	1	152,428,362 (GRCm39)	missense	probably damaging	0.96
R9297:Rgl1	UTSW	1	152,400,454 (GRCm39)	missense	possibly damaging	0.89
R9318:Rgl1	UTSW	1	152,400,454 (GRCm39)	missense	possibly damaging	0.89
R9491:Rgl1	UTSW	1	152,424,869 (GRCm39)	missense	probably damaging	1.00
R9570:Rgl1	UTSW	1	152,430,082 (GRCm39)	missense	possibly damaging	0.47
R9610:Rgl1	UTSW	1	152,397,115 (GRCm39)	missense	probably benign	0.13
R9640:Rgl1	UTSW	1	152,397,142 (GRCm39)	missense	probably damaging	1.00
RF005:Rgl1	UTSW	1	152,397,114 (GRCm39)	missense	probably benign
Z1088:Rgl1	UTSW	1	152,550,771 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGTGCATATGCCCCTGCC -3'
(R):5'- TTCACCTGCTCATTCAGAAGTAGTAC -3'

Sequencing Primer
(F):5'- TGCCATCACTAGGATCCAAATG -3'
(R):5'- GTAGTACTAGCACTCAGGAGCC -3'

Posted On

2015-10-08