Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Rgl3'

283836

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgl3

Ensembl Gene

ENSMUSG00000040146

Gene Name

ral guanine nucleotide dissociation stimulator-like 3

Synonyms

1300003D20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

21968711-21989446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21981708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 227 (F227L)

Ref Sequence

ENSEMBL: ENSMUSP00000148965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045726] [ENSMUST00000214026] [ENSMUST00000215851]

AlphaFold

Q3UYI5

Predicted Effect

probably benign
Transcript: ENSMUST00000045726
AA Change: F227L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: F227L

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
RasGEFN	63	201	1.35e-6	SMART
RasGEF	244	504	2.74e-84	SMART
low complexity region	533	579	N/A	INTRINSIC
RA	609	699	3.36e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213130

Predicted Effect

probably benign
Transcript: ENSMUST00000214026
AA Change: F227L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214713

Predicted Effect

probably benign
Transcript: ENSMUST00000215851

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Rgl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Rgl3	APN	9	21977239	missense	probably damaging	1.00
IGL00770:Rgl3	APN	9	21987722	splice site	probably benign
IGL00774:Rgl3	APN	9	21987722	splice site	probably benign
IGL02071:Rgl3	APN	9	21988263	missense	probably benign	0.00
IGL02172:Rgl3	APN	9	21976838	missense	probably damaging	1.00
IGL02277:Rgl3	APN	9	21974109	missense	probably damaging	1.00
IGL02515:Rgl3	APN	9	21974100	missense	possibly damaging	0.93
R0077:Rgl3	UTSW	9	21974102	missense	probably benign	0.00
R0126:Rgl3	UTSW	9	21975812	missense	probably benign	0.06
R0360:Rgl3	UTSW	9	21976857	missense	probably damaging	0.97
R0421:Rgl3	UTSW	9	21976032	missense	probably benign	0.06
R0556:Rgl3	UTSW	9	21975844	nonsense	probably null
R0751:Rgl3	UTSW	9	21977380	critical splice donor site	probably null
R1184:Rgl3	UTSW	9	21977380	critical splice donor site	probably null
R1548:Rgl3	UTSW	9	21980706	missense	probably benign	0.11
R2176:Rgl3	UTSW	9	21975958	utr 3 prime	probably benign
R3154:Rgl3	UTSW	9	21980774	missense	probably damaging	1.00
R3607:Rgl3	UTSW	9	21987691	missense	probably damaging	0.98
R3803:Rgl3	UTSW	9	21976025	missense	probably damaging	1.00
R3958:Rgl3	UTSW	9	21975589	intron	probably benign
R4081:Rgl3	UTSW	9	21987675	missense	possibly damaging	0.79
R4937:Rgl3	UTSW	9	21987708	nonsense	probably null
R5068:Rgl3	UTSW	9	21988044	critical splice donor site	probably null
R5070:Rgl3	UTSW	9	21988044	critical splice donor site	probably null
R5217:Rgl3	UTSW	9	21987648	makesense	probably null
R5772:Rgl3	UTSW	9	21981612	missense	probably benign	0.00
R5819:Rgl3	UTSW	9	21981602	critical splice donor site	probably null
R6509:Rgl3	UTSW	9	21971908	missense	probably benign	0.00
R7425:Rgl3	UTSW	9	21976827	nonsense	probably null
R7744:Rgl3	UTSW	9	21987570	missense	probably benign	0.00
R7883:Rgl3	UTSW	9	21981427	missense	probably benign	0.00
R8339:Rgl3	UTSW	9	21987529	missense	probably benign
R8383:Rgl3	UTSW	9	21977233	missense	probably damaging	1.00
R8546:Rgl3	UTSW	9	21987860	missense	probably benign	0.06
R8554:Rgl3	UTSW	9	21988863	missense	probably benign
R9189:Rgl3	UTSW	9	21974060	missense	possibly damaging	0.65
R9380:Rgl3	UTSW	9	21976827	missense	probably damaging	0.99
X0019:Rgl3	UTSW	9	21981479	missense	probably benign
Z1176:Rgl3	UTSW	9	21981403	missense	possibly damaging	0.91

Posted On

2015-04-16