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: 0.063) question?

Stock #

R6373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146104786-146107531 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146107085 bp (GRCm39)

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: 10,038,240 (GRCm39)	L279P	probably damaging	Het
Aldh16a1	C	G	7: 44,795,695 (GRCm39)	V373L	probably benign	Het
Btn2a2	T	C	13: 23,665,999 (GRCm39)	K278E	probably benign	Het
Carns1	G	T	19: 4,216,515 (GRCm39)	Q556K	probably benign	Het
Chd1	A	T	17: 15,958,898 (GRCm39)	E650V	probably damaging	Het
Cobl	A	G	11: 12,203,118 (GRCm39)	S1195P	probably damaging	Het
Deup1	T	C	9: 15,472,638 (GRCm39)	H464R	probably damaging	Het
Eva1a	T	C	6: 82,068,847 (GRCm39)	L58S	probably damaging	Het
Fign	A	C	2: 63,809,989 (GRCm39)	M427R	probably benign	Het
H2ac7	A	G	13: 23,759,027 (GRCm39)	K128R	probably benign	Het
Helz	A	G	11: 107,486,010 (GRCm39)	T140A	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kif16b	A	T	2: 142,541,618 (GRCm39)	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,723,065 (GRCm39)	M386T	probably benign	Het
Myh11	T	A	16: 14,022,994 (GRCm39)	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,102,923 (GRCm39)	P513S	probably damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,325,988 (GRCm39)	T462A	probably benign	Het
Nrxn2	T	C	19: 6,559,860 (GRCm39)	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,943,237 (GRCm39)	G122R	probably damaging	Het
Or1e26	A	G	11: 73,479,724 (GRCm39)	V280A	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,189 (GRCm39)	I47M	possibly damaging	Het
Parg	T	G	14: 31,931,454 (GRCm39)		probably null	Het
Pcdhb7	T	A	18: 37,475,264 (GRCm39)	C133*	probably null	Het
Ppihl	A	G	5: 44,070,893 (GRCm39)	T127A	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Rpe	T	C	1: 66,755,139 (GRCm39)	F174L	probably benign	Het
Rxrb	A	G	17: 34,252,533 (GRCm39)	N40S	probably benign	Het
Ryr3	C	A	2: 112,486,889 (GRCm39)	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,724,595 (GRCm39)	L529P	probably damaging	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spink5	A	G	18: 44,123,739 (GRCm39)	E342G	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syce1l	T	A	8: 114,376,143 (GRCm39)	M31K	probably benign	Het
Ttn	C	T	2: 76,618,960 (GRCm39)	V14394I	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Vangl1	T	C	3: 102,065,764 (GRCm39)	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,382,317 (GRCm39)	I290T	unknown	Het

Other mutations in Gm6309

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Gm6309	APN	5	146,105,221 (GRCm39)	missense	probably benign	0.02
IGL01835:Gm6309	APN	5	146,105,085 (GRCm39)	missense	probably damaging	0.99
FR4737:Gm6309	UTSW	5	146,104,993 (GRCm39)	missense	probably benign
FR4976:Gm6309	UTSW	5	146,104,993 (GRCm39)	missense	probably benign
R1513:Gm6309	UTSW	5	146,107,393 (GRCm39)	missense	possibly damaging	0.83
R2022:Gm6309	UTSW	5	146,105,121 (GRCm39)	missense	probably benign
R2191:Gm6309	UTSW	5	146,105,681 (GRCm39)	missense	possibly damaging	0.93
R4735:Gm6309	UTSW	5	146,105,054 (GRCm39)	missense	probably damaging	0.99
R5719:Gm6309	UTSW	5	146,104,992 (GRCm39)	missense	probably benign	0.01
R5776:Gm6309	UTSW	5	146,105,691 (GRCm39)	missense	possibly damaging	0.80
R5833:Gm6309	UTSW	5	146,105,128 (GRCm39)	missense	probably damaging	1.00
R6246:Gm6309	UTSW	5	146,107,050 (GRCm39)	missense	probably damaging	1.00
R6873:Gm6309	UTSW	5	146,104,998 (GRCm39)	missense	probably damaging	0.96
R6912:Gm6309	UTSW	5	146,105,640 (GRCm39)	missense	probably damaging	0.97
R6954:Gm6309	UTSW	5	146,105,300 (GRCm39)	missense	possibly damaging	0.82
R7145:Gm6309	UTSW	5	146,107,100 (GRCm39)	missense	possibly damaging	0.74
R7258:Gm6309	UTSW	5	146,105,106 (GRCm39)	missense	probably benign	0.07
R7535:Gm6309	UTSW	5	146,105,100 (GRCm39)	missense	probably damaging	1.00
R8885:Gm6309	UTSW	5	146,105,103 (GRCm39)	missense	probably damaging	1.00
R8941:Gm6309	UTSW	5	146,107,155 (GRCm39)	missense	probably damaging	0.98
R9577:Gm6309	UTSW	5	146,105,700 (GRCm39)	missense	possibly damaging	0.74
R9668:Gm6309	UTSW	5	146,105,026 (GRCm39)	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