Mutagenetix > Incidental Mutations

Incidental Mutation 'R5833:Gm6309'

449402

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

043221-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5833 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146167976-146170721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146168318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 262 (S262P)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174320]

AlphaFold

L7N481

Predicted Effect

probably damaging
Transcript: ENSMUST00000174320
AA Change: S262P

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

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: S262P

Domain	Start	End	E-Value	Type
RasGEFN	65	181	3.29e-3	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 95.7%
20x: 84.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcb4	T	C	5: 8,958,314	Y1161H	probably damaging	Het
Adcy2	T	A	13: 68,738,603	M276L	probably benign	Het
Adi1	A	G	12: 28,681,042	D166G	probably benign	Het
Arhgap44	T	G	11: 65,038,677	E267A	probably damaging	Het
Arl11	T	A	14: 61,311,062	L107Q	probably damaging	Het
C1qtnf3	A	G	15: 10,975,630	D247G	probably benign	Het
C4b	T	C	17: 34,730,673	D1481G	probably damaging	Het
Cacna1a	T	C	8: 84,518,697	F242L	probably damaging	Het
Ccnl1	T	C	3: 65,948,501	K298E	probably benign	Het
Dcaf5	A	G	12: 80,348,429	V322A	probably damaging	Het
Ddr2	T	C	1: 170,004,696	N175S	probably benign	Het
Enox1	T	A	14: 77,506,939	M21K	probably benign	Het
Fhad1	T	C	4: 142,002,527	D55G	probably damaging	Het
Gm5157	A	G	7: 21,185,393	M75T	possibly damaging	Het
Gpnmb	T	C	6: 49,044,018	L82P	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Itpripl2	A	C	7: 118,489,971	V455G	probably benign	Het
Kif16b	A	G	2: 142,707,367	V1087A	probably benign	Het
Med12l	A	G	3: 59,265,226	D1801G	possibly damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mtmr4	T	A	11: 87,605,049	Y570*	probably null	Het
Osbpl1a	G	T	18: 12,788,362	N128K	probably damaging	Het
Pcdhb5	T	A	18: 37,321,102	H178Q	probably damaging	Het
Pdlim1	A	T	19: 40,230,545	F214Y	probably damaging	Het
Qk	A	T	17: 10,216,387	L236H	probably damaging	Het
Rexo2	G	T	9: 48,468,871	D220E	probably benign	Het
Rras	A	G	7: 45,021,291	E195G	possibly damaging	Het
Serpinb11	T	C	1: 107,377,662		probably null	Het
Sp1	T	A	15: 102,430,917	M430K	possibly damaging	Het
Tardbp	A	C	4: 148,617,660	V86G	probably damaging	Het
Trim43c	A	G	9: 88,843,037	Q203R	possibly damaging	Het
Vmn1r232	A	G	17: 20,913,651	L229P	probably damaging	Het

Other mutations in Gm6309

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Gm6309	APN	5	146168411	missense	probably benign	0.02
IGL01835:Gm6309	APN	5	146168275	missense	probably damaging	0.99
FR4737:Gm6309	UTSW	5	146168183	missense	probably benign
FR4976:Gm6309	UTSW	5	146168183	missense	probably benign
R1513:Gm6309	UTSW	5	146170583	missense	possibly damaging	0.83
R2022:Gm6309	UTSW	5	146168311	missense	probably benign
R2191:Gm6309	UTSW	5	146168871	missense	possibly damaging	0.93
R4735:Gm6309	UTSW	5	146168244	missense	probably damaging	0.99
R5719:Gm6309	UTSW	5	146168182	missense	probably benign	0.01
R5776:Gm6309	UTSW	5	146168881	missense	possibly damaging	0.80
R6246:Gm6309	UTSW	5	146170240	missense	probably damaging	1.00
R6373:Gm6309	UTSW	5	146170275	missense	probably damaging	0.97
R6873:Gm6309	UTSW	5	146168188	missense	probably damaging	0.96
R6912:Gm6309	UTSW	5	146168830	missense	probably damaging	0.97
R6954:Gm6309	UTSW	5	146168490	missense	possibly damaging	0.82
R7145:Gm6309	UTSW	5	146170290	missense	possibly damaging	0.74
R7258:Gm6309	UTSW	5	146168296	missense	probably benign	0.07
R7535:Gm6309	UTSW	5	146168290	missense	probably damaging	1.00
R8885:Gm6309	UTSW	5	146168293	missense	probably damaging	1.00
R8941:Gm6309	UTSW	5	146170345	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAACTCTGCAGACCATTCTCC -3'
(R):5'- TTAGATTTTGCCACAGCTCCAGAG -3'

Sequencing Primer
(F):5'- TCCTAACTATATGTCAACCTCAGG -3'
(R):5'- TCAGAGCAGGATGCCTCTG -3'

Posted On

2016-12-20