Mutagenetix > Incidental Mutation

Incidental Mutation 'R8383:Rgl3'

647031

Institutional Source

Beutler Lab

Gene Symbol

Rgl3

Ensembl Gene

ENSMUSG00000040146

Gene Name

ral guanine nucleotide dissociation stimulator-like 3

Synonyms

1300003D20Rik

MMRRC Submission

067749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21882475-21900765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21888529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 427 (T427I)

Ref Sequence

ENSEMBL: ENSMUSP00000035726 (fasta)

Gene Model

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

AlphaFold

Q3UYI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045726
AA Change: T427I

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

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: T427I

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

probably damaging
Transcript: ENSMUST00000214026
AA Change: T427I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215851

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Adcyap1r1	T	C	6: 55,456,985 (GRCm39)	S239P	probably damaging	Het
Alpk1	A	T	3: 127,518,085 (GRCm39)	M72K	probably benign	Het
Alpk2	G	T	18: 65,438,469 (GRCm39)	R975S	probably benign	Het
Ankrd7	A	T	6: 18,868,410 (GRCm39)	K177N	possibly damaging	Het
Asxl1	A	G	2: 153,235,639 (GRCm39)	T272A	probably damaging	Het
Ccdc175	A	G	12: 72,155,952 (GRCm39)	Y666H	possibly damaging	Het
Cyp2j11	T	C	4: 96,236,695 (GRCm39)	N37S	probably benign	Het
Dglucy	A	G	12: 100,801,588 (GRCm39)	D81G	probably benign	Het
Dysf	T	A	6: 83,996,565 (GRCm39)	D22E	probably damaging	Het
Glg1	T	C	8: 111,896,194 (GRCm39)	T177A	possibly damaging	Het
Gm3415	C	T	5: 146,495,228 (GRCm39)	P210L	probably benign	Het
Gm7995	A	G	14: 42,133,321 (GRCm39)	H66R		Het
Habp2	G	A	19: 56,304,768 (GRCm39)	V388M	probably damaging	Het
Hey2	A	G	10: 30,716,665 (GRCm39)	S33P	probably benign	Het
Hmbs	C	T	9: 44,249,240 (GRCm39)	R195H	probably damaging	Het
Hrnr	A	T	3: 93,239,653 (GRCm39)	Y3297F	unknown	Het
Hspg2	T	A	4: 137,271,681 (GRCm39)	H2482Q	possibly damaging	Het
Ifi207	GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,770 (GRCm39)		probably benign	Het
Ifi208	T	A	1: 173,511,075 (GRCm39)	V410E	possibly damaging	Het
Igkv3-7	A	G	6: 70,584,734 (GRCm39)	T25A	probably damaging	Het
Il22ra1	A	G	4: 135,461,451 (GRCm39)	Q72R	probably damaging	Het
Ip6k1	T	A	9: 107,921,926 (GRCm39)	F207I	possibly damaging	Het
Kdm6b	A	G	11: 69,296,876 (GRCm39)	S464P	probably benign	Het
Kirrel3	G	T	9: 34,941,179 (GRCm39)	M601I	probably null	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Kmt2e	A	G	5: 23,690,539 (GRCm39)	N518S	probably benign	Het
Myo5b	A	G	18: 74,777,049 (GRCm39)	S370G	probably benign	Het
Nrn1l	T	C	8: 106,621,058 (GRCm39)	L50P	probably damaging	Het
Nrxn2	A	G	19: 6,522,343 (GRCm39)	Y411C	probably damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or1j15	A	T	2: 36,459,014 (GRCm39)	I135F	probably benign	Het
Or1j20	A	G	2: 36,760,343 (GRCm39)	Y255C	probably damaging	Het
Or5t5	A	G	2: 86,616,874 (GRCm39)	I267V	probably benign	Het
Panx3	T	A	9: 37,578,049 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,217,759 (GRCm39)	F1139L	probably damaging	Het
Pld2	G	A	11: 70,442,255 (GRCm39)	D380N	possibly damaging	Het
Plekha7	A	C	7: 115,744,154 (GRCm39)	N715K	probably damaging	Het
Pom121l12	T	A	11: 14,549,353 (GRCm39)	S20T	probably benign	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rdh8	G	A	9: 20,734,081 (GRCm39)		probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sclt1	A	C	3: 41,696,450 (GRCm39)	I5S	probably benign	Het
Seh1l	A	G	18: 67,908,126 (GRCm39)	H16R	possibly damaging	Het
Sgca	G	A	11: 94,863,068 (GRCm39)	P95L	probably benign	Het
Spag17	T	G	3: 99,992,708 (GRCm39)	S1735A	probably damaging	Het
Tdrd3	T	C	14: 87,743,744 (GRCm39)	I564T	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Trpv3	T	G	11: 73,180,127 (GRCm39)	F524V	probably benign	Het
Ttc41	A	G	10: 86,555,390 (GRCm39)	N282S	probably benign	Het
Txnrd2	T	C	16: 18,291,614 (GRCm39)	L421P	possibly damaging	Het
Tyr	A	T	7: 87,133,200 (GRCm39)	C289S	probably damaging	Het
Ubn1	A	G	16: 4,895,222 (GRCm39)	E756G	possibly damaging	Het
Vps13a	A	T	19: 16,701,069 (GRCm39)	M700K	possibly damaging	Het
Zfhx2	A	G	14: 55,311,528 (GRCm39)	S389P	possibly damaging	Het
Zfp667	T	C	7: 6,308,370 (GRCm39)	L346P	probably damaging	Het
Zfp945	A	G	17: 23,070,798 (GRCm39)	M388T	probably benign	Het
Zfp992	A	G	4: 146,551,133 (GRCm39)	I285V	probably benign	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
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
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'- GCACAAGTCTCTATGGTAAGCG -3'
(R):5'- GGCCTCGGATTCATGTAGTC -3'

Sequencing Primer
(F):5'- CTCTATGGTAAGCGGGGGTG -3'
(R):5'- ACCACTGAGGATGATGACTGCC -3'

Posted On

2020-09-02