Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Rgl1'

271578

Institutional Source

Beutler Lab

Gene Symbol

Rgl1

Ensembl Gene

ENSMUSG00000026482

Gene Name

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms

Rgl

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152392513-152642089 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 152550774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107490 (fasta)

Gene Model

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

AlphaFold

Q60695

Predicted Effect

probably benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,153,944 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chaf1b	T	C	16: 93,701,987 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mfn2	T	C	4: 147,979,153 (GRCm39)	T60A	probably benign	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptchd3	T	A	11: 121,721,420 (GRCm39)	F98I	probably damaging	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zfp512b	G	A	2: 181,230,229 (GRCm39)	T499I	probably damaging	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	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
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
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'- GTATGAGCAAATCCATCAATGTGCCAG -3'
(R):5'- ACCTGTGAATTACAGAATGTGAAGAGCG -3'

Sequencing Primer
(F):5'- AATGTGCCAGCTCTGTTGC -3'
(R):5'- ccagcattccagaggcag -3'

Posted On

2015-03-23