Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Rgl1'

566299

Institutional Source

Beutler Lab

Gene Symbol

Rgl1

Ensembl Gene

ENSMUSG00000026482

Gene Name

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms

Rgl

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

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

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152392513-152642089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152420146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 366 (S366P)

Ref Sequence

ENSEMBL: ENSMUSP00000027760 (fasta)

Gene Model

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

AlphaFold

Q60695

PDB Structure

SOLUTION STRUCTURE OF THE RAS-BINDING DOMAIN OF RGL [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027760
AA Change: S366P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: S366P

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: S364P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: S364P

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
AA Change: S401P

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: S401P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Adra2a	T	C	19: 54,034,835 (GRCm39)	F64L	probably damaging	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gm19965	G	A	1: 116,748,921 (GRCm39)	V201M		Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mest	A	G	6: 30,747,158 (GRCm39)	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,501,892 (GRCm39)		probably null	Het
Rbl2	C	A	8: 91,841,669 (GRCm39)	A955D	probably benign	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	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
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
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'- GAACCCAGGCTTTGATGTCC -3'
(R):5'- ATGAAGACACTCATTAGCTCCC -3'

Sequencing Primer
(F):5'- GAAAACCTCAACTGGGCTTTG -3'
(R):5'- TTAGCTCCCCAAATCCTGAGG -3'

Posted On

2019-06-26