Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00706:Rgl3'

13813

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00706

Quality Score

Status

Chromosome

Chromosomal Location

21882475-21900765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21888535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 425 (F425S)

Ref Sequence

ENSEMBL: ENSMUSP00000148965 (fasta)

Gene Model

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

AlphaFold

Q3UYI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045726
AA Change: F425S

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

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: F425S

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

noncoding transcript
Transcript: ENSMUST00000213558

Predicted Effect

probably damaging
Transcript: ENSMUST00000214026
AA Change: F425S

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

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,991,094 (GRCm39)	S4126*	probably null	Het
Arhgap26	T	A	18: 39,419,604 (GRCm39)	N521K	probably damaging	Het
Bard1	C	T	1: 71,070,585 (GRCm39)	R633H	probably benign	Het
Cntn3	C	T	6: 102,180,910 (GRCm39)	V762I	probably benign	Het
Cyp2e1	T	C	7: 140,349,066 (GRCm39)	I132T	probably benign	Het
Cyp2t4	T	C	7: 26,854,583 (GRCm39)	I13T	probably benign	Het
Dhx36	A	T	3: 62,404,263 (GRCm39)	C227S	probably damaging	Het
Fetub	A	G	16: 22,754,446 (GRCm39)	T138A	probably benign	Het
Gab3	C	T	X: 74,048,965 (GRCm39)	S362N	probably benign	Het
Gpr158	T	C	2: 21,751,584 (GRCm39)	L501P	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,282 (GRCm39)	T445S	probably benign	Het
Kdm5a	T	A	6: 120,383,597 (GRCm39)	D779E	possibly damaging	Het
Ms4a5	C	T	19: 11,261,142 (GRCm39)	V6I	probably benign	Het
Rnf6	T	C	5: 146,148,715 (GRCm39)	D112G	possibly damaging	Het
Spink12	G	A	18: 44,240,872 (GRCm39)	C86Y	probably damaging	Het
Styxl2	T	C	1: 165,928,121 (GRCm39)	E497G	probably benign	Het
Wdr3	G	A	3: 100,055,416 (GRCm39)		probably benign	Het

Other mutations in Rgl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Rgl3	APN	9	21,899,018 (GRCm39)	splice site	probably benign
IGL00774:Rgl3	APN	9	21,899,018 (GRCm39)	splice site	probably benign
IGL02071:Rgl3	APN	9	21,899,559 (GRCm39)	missense	probably benign	0.00
IGL02172:Rgl3	APN	9	21,888,134 (GRCm39)	missense	probably damaging	1.00
IGL02190:Rgl3	APN	9	21,893,004 (GRCm39)	missense	probably benign	0.00
IGL02277:Rgl3	APN	9	21,885,405 (GRCm39)	missense	probably damaging	1.00
IGL02515:Rgl3	APN	9	21,885,396 (GRCm39)	missense	possibly damaging	0.93
R0077:Rgl3	UTSW	9	21,885,398 (GRCm39)	missense	probably benign	0.00
R0126:Rgl3	UTSW	9	21,887,108 (GRCm39)	missense	probably benign	0.06
R0360:Rgl3	UTSW	9	21,888,153 (GRCm39)	missense	probably damaging	0.97
R0421:Rgl3	UTSW	9	21,887,328 (GRCm39)	missense	probably benign	0.06
R0556:Rgl3	UTSW	9	21,887,140 (GRCm39)	nonsense	probably null
R0751:Rgl3	UTSW	9	21,888,676 (GRCm39)	critical splice donor site	probably null
R1184:Rgl3	UTSW	9	21,888,676 (GRCm39)	critical splice donor site	probably null
R1548:Rgl3	UTSW	9	21,892,002 (GRCm39)	missense	probably benign	0.11
R2176:Rgl3	UTSW	9	21,887,254 (GRCm39)	utr 3 prime	probably benign
R3154:Rgl3	UTSW	9	21,892,070 (GRCm39)	missense	probably damaging	1.00
R3607:Rgl3	UTSW	9	21,898,987 (GRCm39)	missense	probably damaging	0.98
R3803:Rgl3	UTSW	9	21,887,321 (GRCm39)	missense	probably damaging	1.00
R3958:Rgl3	UTSW	9	21,886,885 (GRCm39)	intron	probably benign
R4081:Rgl3	UTSW	9	21,898,971 (GRCm39)	missense	possibly damaging	0.79
R4937:Rgl3	UTSW	9	21,899,004 (GRCm39)	nonsense	probably null
R5068:Rgl3	UTSW	9	21,899,340 (GRCm39)	critical splice donor site	probably null
R5070:Rgl3	UTSW	9	21,899,340 (GRCm39)	critical splice donor site	probably null
R5217:Rgl3	UTSW	9	21,898,944 (GRCm39)	makesense	probably null
R5772:Rgl3	UTSW	9	21,892,908 (GRCm39)	missense	probably benign	0.00
R5819:Rgl3	UTSW	9	21,892,898 (GRCm39)	critical splice donor site	probably null
R6509:Rgl3	UTSW	9	21,883,204 (GRCm39)	missense	probably benign	0.00
R7425:Rgl3	UTSW	9	21,888,123 (GRCm39)	nonsense	probably null
R7744:Rgl3	UTSW	9	21,898,866 (GRCm39)	missense	probably benign	0.00
R7883:Rgl3	UTSW	9	21,892,723 (GRCm39)	missense	probably benign	0.00
R8339:Rgl3	UTSW	9	21,898,825 (GRCm39)	missense	probably benign
R8383:Rgl3	UTSW	9	21,888,529 (GRCm39)	missense	probably damaging	1.00
R8546:Rgl3	UTSW	9	21,899,156 (GRCm39)	missense	probably benign	0.06
R8554:Rgl3	UTSW	9	21,900,159 (GRCm39)	missense	probably benign
R9189:Rgl3	UTSW	9	21,885,356 (GRCm39)	missense	possibly damaging	0.65
R9380:Rgl3	UTSW	9	21,888,123 (GRCm39)	missense	probably damaging	0.99
X0019:Rgl3	UTSW	9	21,892,775 (GRCm39)	missense	probably benign
Z1176:Rgl3	UTSW	9	21,892,699 (GRCm39)	missense	possibly damaging	0.91

Posted On

2012-12-06