Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Gm6309'

564412

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146167976-146170721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146168296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 269 (V269E)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

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

AlphaFold

L7N481

Predicted Effect

probably benign
Transcript: ENSMUST00000174320
AA Change: V269E

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: V269E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	C	1: 87,475,067	I40L	probably benign	Het
4933402J07Rik	A	C	8: 87,586,177	S197R	probably damaging	Het
Abcc12	T	C	8: 86,560,857	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,450,219	I67V	probably benign	Het
Alpk1	A	T	3: 127,724,466	V62E	probably damaging	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
B230118H07Rik	T	C	2: 101,610,592	D22G	probably null	Het
Ccr5	A	T	9: 124,125,274	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,326,084	H339R	probably damaging	Het
Cep290	T	G	10: 100,499,108	M330R	probably benign	Het
Cyfip2	T	C	11: 46,224,177	Y901C	probably benign	Het
Ddx54	T	G	5: 120,620,747	Y352D	probably damaging	Het
Defa35	A	T	8: 21,065,229	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,683,599		probably null	Het
Enpep	A	C	3: 129,332,075	L136R	probably benign	Het
Epb41l2	G	A	10: 25,484,287	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,300,953	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,506,781	L410H	probably damaging	Het
Gipc2	T	C	3: 152,165,715	E58G	probably damaging	Het
Gm281	A	T	14: 13,899,648	F91L		Het
Grm5	A	T	7: 88,074,706	T735S	probably damaging	Het
H6pd	T	C	4: 149,996,362	M9V	probably benign	Het
Hmcn1	A	G	1: 150,715,823	I1875T	probably benign	Het
Hrc	T	A	7: 45,336,296	D290E	possibly damaging	Het
Ippk	C	A	13: 49,433,862	Q136K	probably benign	Het
Kcnv1	T	C	15: 45,109,315	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,621,021	E1088A	probably damaging	Het
L1td1	C	T	4: 98,736,864	A432V	probably benign	Het
Ly86	A	G	13: 37,345,497	D20G	probably benign	Het
Myo1g	A	G	11: 6,509,416	I818T	possibly damaging	Het
Nms	A	G	1: 38,946,970	T121A	probably benign	Het
Olfr1084	T	A	2: 86,639,001	K236*	probably null	Het
Olfr1414	A	T	1: 92,511,176	I284N	possibly damaging	Het
Olfr350	T	A	2: 36,850,340	I98K	probably damaging	Het
Olfr391-ps	T	G	11: 73,799,380	I126L	probably damaging	Het
Olfr609	G	C	7: 103,492,589	C96W	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Pcdhb9	T	C	18: 37,402,114	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,093,186	R95H	probably damaging	Het
Pde11a	T	C	2: 76,139,906	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,364,778	D446G	probably benign	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rasal2	A	T	1: 157,157,700	L826M	probably damaging	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Sin3b	T	C	8: 72,750,208	C757R	probably benign	Het
Slc41a1	T	A	1: 131,842,042	V300D	probably benign	Het
Snrpa1	T	C	7: 66,070,143	F162L	probably damaging	Het
Sox30	C	A	11: 45,980,552	A78E	unknown	Het
Ssc4d	G	T	5: 135,963,087	A401E	probably damaging	Het
Steap3	A	G	1: 120,243,986	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,754,907		probably null	Het
Tgfbr2	A	T	9: 116,129,830	I172N	probably damaging	Het
Tgm4	A	G	9: 123,062,491	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,271,413	S96P	probably damaging	Het
Trpa1	T	G	1: 14,903,249	T282P	probably damaging	Het
Uba5	A	T	9: 104,062,933	V5E	unknown	Het
Ugt2b36	A	T	5: 87,080,903	L427H	probably damaging	Het
Utp14b	T	A	1: 78,664,974	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,377,849	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,305,141	L354V	probably benign	Het
Wwc2	T	A	8: 47,842,999	N1079Y	unknown	Het
Zfp653	T	C	9: 22,065,820	D145G	probably benign	Het
Zfp777	T	C	6: 48,025,797	E453G	probably damaging	Het
Zfp936	T	A	7: 43,190,379	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,656,954	Y496N	possibly 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
R5833:Gm6309	UTSW	5	146168318	missense	probably damaging	1.00
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
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
R9577:Gm6309	UTSW	5	146168890	missense	possibly damaging	0.74
R9668:Gm6309	UTSW	5	146168216	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGTAGAACTCTGCAGACCATTCTC -3'
(R):5'- TAGATTTTGCCACAGCTCCAG -3'

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

Posted On

2019-06-26