Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Gm6309'

539078

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146167976-146170721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146168830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 175 (E175K)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

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

AlphaFold

L7N481

Predicted Effect

probably damaging
Transcript: ENSMUST00000174320
AA Change: E175K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: E175K

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,501,147	T67I	possibly damaging	Het
4931406P16Rik	A	G	7: 34,245,668	S384P	probably benign	Het
Abca5	A	T	11: 110,306,280	M524K	probably benign	Het
Aco2	G	A	15: 81,895,396	V134I	probably benign	Het
Acsf2	C	T	11: 94,570,380	M323I	probably benign	Het
Acvr1	T	C	2: 58,447,573	D499G	probably benign	Het
Armc5	G	A	7: 128,240,425	C305Y	probably damaging	Het
Astl	T	C	2: 127,356,386	I286T	probably benign	Het
Atp8a2	G	A	14: 60,012,410	S544L	probably benign	Het
Bbs7	G	T	3: 36,605,704	A194E	probably benign	Het
Brca2	A	G	5: 150,541,742	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,639,700	S1283L	probably benign	Het
Creld2	T	C	15: 88,819,997	S64P	probably damaging	Het
Crtc1	T	C	8: 70,398,311	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,791,119	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,294,871	M487V	probably benign	Het
Dnah12	T	C	14: 26,878,079	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,750,183	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,648,221		probably null	Het
Erf	T	C	7: 25,244,578	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,616,611	I720F	probably benign	Het
Fam83b	T	A	9: 76,490,932	E963V	probably damaging	Het
Fat1	T	A	8: 45,051,023	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,788,080	K118*	probably null	Het
Fcgbp	A	T	7: 28,089,704	Y565F	probably benign	Het
Gm128	A	T	3: 95,240,429	S185T	probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprin2	T	C	14: 34,194,640	Y391C	probably damaging	Het
Hexa	T	C	9: 59,539,938	L72P	probably damaging	Het
Hrasls5	A	G	19: 7,639,465		probably benign	Het
Il31ra	T	A	13: 112,549,464	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,322,501	A939T	probably benign	Het
Kif16b	A	G	2: 142,700,099		probably benign	Het
Kndc1	A	T	7: 139,910,278	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,457,543	R2775S	unknown	Het
Luc7l3	C	T	11: 94,309,636	R52H	probably damaging	Het
Mapk15	A	T	15: 75,993,898	R13S	probably damaging	Het
Mdga2	G	T	12: 66,506,115	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,870,611	Q69*	probably null	Het
Mlph	A	T	1: 90,945,620	D551V	probably damaging	Het
Mup5	A	T	4: 61,834,569	F72L	probably benign	Het
Narf	T	C	11: 121,238,461	S24P	probably benign	Het
Ncapg2	A	G	12: 116,426,582	I384V	probably benign	Het
Neo1	T	C	9: 58,917,052	T698A	probably benign	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Nrros	T	C	16: 32,162,239	R24G	probably null	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr449	T	C	6: 42,838,802	V307A	probably benign	Het
Pde9a	T	C	17: 31,466,412	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 72,070,396	D315G	probably benign	Het
Plekha6	C	T	1: 133,272,535	A284V	probably benign	Het
Plekhg2	A	G	7: 28,360,259	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,287	A144E	probably damaging	Het
Ppp1r10	T	C	17: 35,929,561	V581A	possibly damaging	Het
Prr12	A	G	7: 45,048,845		probably benign	Het
Rfx6	T	C	10: 51,723,853	V565A	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Saxo2	A	G	7: 82,635,194	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,903,120	D86G	probably benign	Het
Shroom3	A	T	5: 92,943,017	M1128L	probably benign	Het
Smok2a	C	A	17: 13,225,656	T40K	probably benign	Het
Tatdn1	C	T	15: 58,921,269		probably null	Het
Tbc1d2	C	A	4: 46,649,712	G108V	probably damaging	Het
Tbck	T	C	3: 132,686,942	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,626,103	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,598,799	D245G	probably benign	Het
Trim68	A	T	7: 102,684,468	D2E	probably damaging	Het
Trps1	T	A	15: 50,822,298	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,638,603	T385A	probably benign	Het
Ubap2l	A	T	3: 90,038,848	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,532,155	R105W	probably damaging	Het
Ubr4	G	A	4: 139,458,234		probably null	Het
Unc5b	A	G	10: 60,831,092	L25P	probably benign	Het
Usp38	A	G	8: 80,993,329	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,232,204	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,454,600	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 18,827,202	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,499,973		probably benign	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
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'- TTACCTGACTGCAGTCCAGC -3'
(R):5'- GGCATTACCTCATCTGATGGG -3'

Sequencing Primer
(F):5'- AATACCCTGCTGGAATCC -3'
(R):5'- CAAGGCTCCTCTTGAGAAGC -3'

Posted On

2018-11-06