Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Rgl1'

384239

Institutional Source

Beutler Lab

Gene Symbol

Rgl1

Ensembl Gene

ENSMUSG00000026482

Gene Name

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms

Rgl

Accession Numbers

Essential gene?

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

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152392513-152642089 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 152424813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107490 (fasta)

Gene Model

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

AlphaFold

Q60695

Predicted Effect

probably null
Transcript: ENSMUST00000027760

SMART Domains

Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482

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 null
Transcript: ENSMUST00000111857

SMART Domains

Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482

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 null
Transcript: ENSMUST00000111859

SMART Domains

Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188395

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	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
R4669: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
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'- GGTTTCTGTAACTGCCCACC -3'
(R):5'- TGTCCAGTATTTATACAGCTGCC -3'

Sequencing Primer
(F):5'- GCCCACCCTCGAAATTCATTGATG -3'
(R):5'- ACAGCTGCCTATTTAGTGGTAAG -3'

Posted On

2016-04-27