Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Rgl3'

19486

Institutional Source

Beutler Lab

Gene Symbol

Rgl3

Ensembl Gene

ENSMUSG00000040146

Gene Name

ral guanine nucleotide dissociation stimulator-like 3

Synonyms

1300003D20Rik

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21882475-21900765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21885398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 644 (Q644L)

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: Q644L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: Q644L

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 benign
Transcript: ENSMUST00000214026
AA Change: Q644L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214713

Predicted Effect

probably benign
Transcript: ENSMUST00000215851

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,919,532 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,223,418 (GRCm39)	I624V	probably damaging	Het
AI661453	A	G	17: 47,780,287 (GRCm39)		probably benign	Het
Alg12	C	T	15: 88,700,181 (GRCm39)	E60K	probably damaging	Het
Angel2	A	T	1: 190,665,284 (GRCm39)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,630,183 (GRCm39)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Bpi	T	A	2: 158,103,254 (GRCm39)	M83K	probably damaging	Het
Capn7	A	G	14: 31,090,072 (GRCm39)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,015,938 (GRCm39)		probably benign	Het
Ccr3	C	T	9: 123,829,061 (GRCm39)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,971,077 (GRCm39)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,354,384 (GRCm39)	I218K	unknown	Het
Ddx23	A	G	15: 98,554,481 (GRCm39)		probably null	Het
Dmkn	A	G	7: 30,464,719 (GRCm39)	S231G	probably benign	Het
Ep300	T	C	15: 81,525,514 (GRCm39)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,080,795 (GRCm39)	F318S	probably damaging	Het
Grik5	A	T	7: 24,722,805 (GRCm39)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,925 (GRCm39)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,907,990 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,358 (GRCm39)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,527,700 (GRCm39)	N884I	probably benign	Het
Krba1	T	C	6: 48,382,159 (GRCm39)		probably benign	Het
Krt18	G	T	15: 101,939,409 (GRCm39)	R294L	probably benign	Het
Lctl	T	A	9: 64,029,389 (GRCm39)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm39)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,449,995 (GRCm39)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 116,881,419 (GRCm39)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,220,855 (GRCm39)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,096,778 (GRCm39)	T535I	probably benign	Het
Nav3	T	C	10: 109,552,503 (GRCm39)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,753,826 (GRCm39)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,024,117 (GRCm39)	F441I	probably benign	Het
Obscn	A	G	11: 58,942,347 (GRCm39)		probably benign	Het
Or1p1	T	C	11: 74,179,501 (GRCm39)	F10L	probably benign	Het
Or2a56	T	C	6: 42,932,707 (GRCm39)	S92P	probably benign	Het
Or56b34	T	C	7: 104,937,726 (GRCm39)	V142A	probably damaging	Het
Or5au1	T	C	14: 52,273,442 (GRCm39)	N42S	possibly damaging	Het
Osr1	A	T	12: 9,629,691 (GRCm39)	Y188F	probably damaging	Het
Pak2	A	T	16: 31,852,661 (GRCm39)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,226,049 (GRCm39)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,660,442 (GRCm39)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,377,448 (GRCm39)		probably null	Het
Plbd2	C	T	5: 120,624,104 (GRCm39)		probably null	Het
Ppp1r3a	G	T	6: 14,754,516 (GRCm39)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,499,985 (GRCm39)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,315,169 (GRCm39)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,595,906 (GRCm39)	I34F	probably damaging	Het
Rpap2	T	C	5: 107,768,340 (GRCm39)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
S100a11	A	C	3: 93,431,509 (GRCm39)		probably null	Het
Septin4	T	C	11: 87,472,022 (GRCm39)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,862,350 (GRCm39)	S322G	probably benign	Het
Setdb1	A	T	3: 95,248,762 (GRCm39)	C385S	probably damaging	Het
Shank2	A	T	7: 143,746,204 (GRCm39)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,528,221 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tbcd	C	A	11: 121,485,100 (GRCm39)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,792,198 (GRCm39)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,701 (GRCm39)	T18A	probably benign	Het
Tsc1	T	A	2: 28,568,955 (GRCm39)		probably benign	Het
Ube2m	T	C	7: 12,769,657 (GRCm39)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 103,799,254 (GRCm39)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,449,332 (GRCm39)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,525,075 (GRCm39)	R24S	probably benign	Het
Wfs1	C	A	5: 37,130,538 (GRCm39)	S236I	probably damaging	Het
Xpot	A	T	10: 121,441,544 (GRCm39)	N560K	probably benign	Het
Yipf3	A	G	17: 46,562,503 (GRCm39)	T303A	probably benign	Het
Zfp790	T	C	7: 29,524,300 (GRCm39)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,505,303 (GRCm39)	C388R	probably benign	Het
Zpr1	T	A	9: 46,184,634 (GRCm39)	I47N	probably damaging	Het

Other mutations in Rgl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Rgl3	APN	9	21,888,535 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCACTCAAAGGTGAGGGTGTT -3'
(R):5'- GCATCTTGGTGAGGGCTGGGAA -3'

Sequencing Primer
(F):5'- gcaggagaaagcacggag -3'
(R):5'- tgtgtatgtgagatcagatgacag -3'

Posted On

2013-04-11