Mutagenetix > Incidental Mutation

Incidental Mutation 'R6373:Gm6309'

513624

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

044523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6373 (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 146170275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 87 (I87N)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

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

AlphaFold

L7N481

Predicted Effect

probably damaging
Transcript: ENSMUST00000174320
AA Change: I87N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: I87N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,988,240	L279P	probably damaging	Het
Aldh16a1	C	G	7: 45,146,271	V373L	probably benign	Het
Btn2a2	T	C	13: 23,481,829	K278E	probably benign	Het
Carns1	G	T	19: 4,166,516	Q556K	probably benign	Het
Chd1	A	T	17: 15,738,636	E650V	probably damaging	Het
Cobl	A	G	11: 12,253,118	S1195P	probably damaging	Het
Ddx58	A	G	4: 40,216,487	Y504H	possibly damaging	Het
Deup1	T	C	9: 15,561,342	H464R	probably damaging	Het
Eva1a	T	C	6: 82,091,866	L58S	probably damaging	Het
Fign	A	C	2: 63,979,645	M427R	probably benign	Het
Gm7879	A	G	5: 43,913,551	T127A	probably damaging	Het
Helz	A	G	11: 107,595,184	T140A	probably benign	Het
Helz2	C	T	2: 181,233,467	E1745K	probably damaging	Het
Hist1h2ad	A	G	13: 23,574,853	K128R	probably benign	Het
Kif16b	A	T	2: 142,699,698	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,783,084	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,589,994	M386T	probably benign	Het
Myh11	T	A	16: 14,205,130	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,453,175	P513S	probably damaging	Het
Ncoa3	C	T	2: 166,059,347	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,324,951	T462A	probably benign	Het
Nrxn2	T	C	19: 6,509,830	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,976,469	G122R	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,845	I47M	possibly damaging	Het
Olfr385	A	G	11: 73,588,898	V280A	probably benign	Het
Parg	T	G	14: 32,209,497		probably null	Het
Pcdhb7	T	A	18: 37,342,211	C133*	probably null	Het
Rpe	T	C	1: 66,715,980	F174L	probably benign	Het
Rxrb	A	G	17: 34,033,559	N40S	probably benign	Het
Ryr3	C	A	2: 112,656,544	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,833,769	L529P	probably damaging	Het
Sntg2	C	T	12: 30,258,041	R215H	probably benign	Het
Spata20	A	G	11: 94,483,400	V348A	probably benign	Het
Spink5	A	G	18: 43,990,672	E342G	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Syce1l	T	A	8: 113,649,511	M31K	probably benign	Het
Ttn	C	T	2: 76,788,616	V14394I	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Vangl1	T	C	3: 102,158,448	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,405,332	I290T	unknown	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
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
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'- TGCAGATTTAGACCCAAGACC -3'
(R):5'- TGTGAGACACTGAGGAGCATTC -3'

Sequencing Primer
(F):5'- GACCAACACTGCCAGGGTC -3'
(R):5'- ACACTGAGGAGCATTCTTGATG -3'

Posted On

2018-04-27