Mutagenetix > Incidental Mutation

Incidental Mutation 'R6180:Rgl1'

487966

Institutional Source

Beutler Lab

Gene Symbol

Rgl1

Ensembl Gene

ENSMUSG00000026482

Gene Name

ral guanine nucleotide dissociation stimulator,-like 1

Synonyms

Rgl

MMRRC Submission

044322-MU

Accession Numbers

Essential gene?

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

Stock #

R6180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152392513-152642089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152394923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 750 (N750S)

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: N715S

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

SMART Domains

Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: N715S

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: N713S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: N713S

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: N750S

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

SMART Domains

Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: N750S

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 41,279,610 (GRCm39)	N667S	probably benign	Het
Ap4e1	T	A	2: 126,908,508 (GRCm39)	C1085*	probably null	Het
BC035044	A	T	6: 128,861,997 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,164,084 (GRCm39)	M1142V	possibly damaging	Het
Capn11	T	C	17: 45,941,692 (GRCm39)	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917 (GRCm39)	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,925,945 (GRCm39)	K218R	possibly damaging	Het
Ccno	T	C	13: 113,126,379 (GRCm39)	S283P	probably damaging	Het
Ccser2	A	T	14: 36,662,276 (GRCm39)	S303T	probably benign	Het
Cd53	T	A	3: 106,674,680 (GRCm39)	N129I	probably damaging	Het
Cd63	G	A	10: 128,747,933 (GRCm39)		probably null	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam2	A	G	17: 49,776,694 (GRCm39)	M797T	probably damaging	Het
Dennd2b	A	C	7: 109,156,095 (GRCm39)	D218E	probably benign	Het
Dmgdh	G	A	13: 93,888,794 (GRCm39)	V811I	possibly damaging	Het
Dpysl4	A	T	7: 138,670,250 (GRCm39)	T123S	probably damaging	Het
Erap1	A	G	13: 74,814,345 (GRCm39)	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,177,902 (GRCm39)	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,215,747 (GRCm39)	D167G	probably damaging	Het
Flrt2	C	T	12: 95,746,012 (GRCm39)	Q117*	probably null	Het
Ftsj3	A	T	11: 106,144,166 (GRCm39)		probably null	Het
Ggn	A	G	7: 28,872,474 (GRCm39)	Y618C	probably damaging	Het
Glis1	T	A	4: 107,484,710 (GRCm39)	S402T	probably benign	Het
Gm4781	T	A	10: 100,232,349 (GRCm39)		noncoding transcript	Het
Gm7168	T	A	17: 14,168,858 (GRCm39)	I75K	probably damaging	Het
Gm7298	C	T	6: 121,737,782 (GRCm39)	H348Y	probably benign	Het
Gria1	G	T	11: 57,133,618 (GRCm39)	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,389 (GRCm39)	T549M	probably damaging	Het
H2-M10.6	T	A	17: 37,125,178 (GRCm39)	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,236,929 (GRCm39)	V336I	probably benign	Het
Il12b	G	A	11: 44,303,453 (GRCm39)	A327T	probably benign	Het
Inpp4a	C	A	1: 37,419,183 (GRCm39)	P588T	probably benign	Het
Kctd12	C	A	14: 103,219,027 (GRCm39)	D284Y	probably damaging	Het
Kif28	C	A	1: 179,525,337 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,723,479 (GRCm39)	N332S	probably benign	Het
Lama2	G	A	10: 26,857,495 (GRCm39)	T3118I	probably benign	Het
Lgi1	T	C	19: 38,253,404 (GRCm39)	L25P	probably damaging	Het
Lhx3	T	A	2: 26,091,503 (GRCm39)	M269L	probably benign	Het
Lmtk2	A	T	5: 144,112,160 (GRCm39)	E960V	probably damaging	Het
Loxl4	A	T	19: 42,596,791 (GRCm39)	D60E	probably damaging	Het
Lrp2	T	A	2: 69,333,868 (GRCm39)	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,224,677 (GRCm39)	S16T	probably damaging	Het
Mllt6	G	A	11: 97,569,362 (GRCm39)	A875T	possibly damaging	Het
Mrgprb4	A	T	7: 47,848,574 (GRCm39)	I118N	probably damaging	Het
Mrps7	A	G	11: 115,495,707 (GRCm39)	T82A	possibly damaging	Het
Mug2	A	G	6: 122,056,565 (GRCm39)	E1170G	probably benign	Het
Nav2	A	G	7: 49,107,915 (GRCm39)	H647R	probably benign	Het
Nbeal2	T	C	9: 110,454,215 (GRCm39)	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,268,395 (GRCm39)	I644L	possibly damaging	Het
Or4c108	T	G	2: 88,804,226 (GRCm39)	N3T	probably damaging	Het
Or8g33	A	T	9: 39,338,008 (GRCm39)	Y120N	probably damaging	Het
Padi4	A	G	4: 140,483,784 (GRCm39)	M352T	possibly damaging	Het
Pals1	C	T	12: 78,864,084 (GRCm39)	H216Y	probably benign	Het
Pcdhgc3	C	A	18: 37,939,990 (GRCm39)	D130E	probably damaging	Het
Pde6a	A	T	18: 61,417,163 (GRCm39)		probably null	Het
Pdpn	C	T	4: 143,025,792 (GRCm39)	G12R	probably damaging	Het
Pot1a	A	T	6: 25,771,620 (GRCm39)	D200E	probably benign	Het
Ppa1	A	T	10: 61,503,431 (GRCm39)	D236V	probably benign	Het
Ptprn2	T	A	12: 116,822,739 (GRCm39)	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,165,609 (GRCm39)	E297G	probably damaging	Het
Rinl	A	G	7: 28,496,365 (GRCm39)	N449D	probably benign	Het
Samd8	T	A	14: 21,825,093 (GRCm39)	H79Q	probably benign	Het
Scn11a	T	C	9: 119,583,933 (GRCm39)	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,400,938 (GRCm39)	L105P	probably benign	Het
Slc7a12	A	T	3: 14,546,200 (GRCm39)		probably null	Het
Slco1a4	A	G	6: 141,763,546 (GRCm39)	I390T	possibly damaging	Het
Snta1	T	C	2: 154,219,102 (GRCm39)	N411S	probably benign	Het
Srgap2	T	C	1: 131,277,279 (GRCm39)	T323A	probably benign	Het
Ssh2	G	T	11: 77,344,291 (GRCm39)	V759L	probably benign	Het
Swap70	G	T	7: 109,869,188 (GRCm39)	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,696,206 (GRCm39)	C914F	probably benign	Het
Tbx3	A	G	5: 119,812,132 (GRCm39)	D144G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,681,857 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,041,468 (GRCm39)	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,132,068 (GRCm39)	C763*	probably null	Het
Vmn1r115	A	C	7: 20,578,640 (GRCm39)	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,659,499 (GRCm39)	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,476 (GRCm39)	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,039,012 (GRCm39)	V95A	probably damaging	Het
Vrk3	A	T	7: 44,419,035 (GRCm39)	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,500,082 (GRCm39)	A223E	probably benign	Het
Xirp2	T	C	2: 67,335,921 (GRCm39)		probably null	Het
Xpo7	T	C	14: 70,920,243 (GRCm39)	N642S	probably benign	Het
Ythdc1	G	A	5: 86,975,953 (GRCm39)	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,283,204 (GRCm39)	E316G	probably damaging	Het
Zfp488	T	A	14: 33,692,751 (GRCm39)	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,789,542 (GRCm39)	V994L	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
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
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'- CCTTTCAGAGGGTGATCTTGC -3'
(R):5'- GGAATTCTGACACCTTGTGC -3'

Sequencing Primer
(F):5'- CTGTGCCTGTTACTCCAGCAG -3'
(R):5'- GACACCTTGTGCTCAGTTTCAGATAG -3'

Posted On

2017-10-10