Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Gm6309'

446695

Institutional Source

Beutler Lab

Gene Symbol

Gm6309

Ensembl Gene

ENSMUSG00000096798

Gene Name

predicted gene 6309

Synonyms

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

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

Stock #

R5776 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

146167976-146170721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146168881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 158 (I158F)

Ref Sequence

ENSEMBL: ENSMUSP00000134203 (fasta)

Gene Model

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

AlphaFold

L7N481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174320
AA Change: I158F

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134203
Gene: ENSMUSG00000096798
AA Change: I158F

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,650	M378K	possibly damaging	Het
Abca17	A	G	17: 24,295,158	V857A	probably benign	Het
Abca9	C	T	11: 110,107,460		probably null	Het
Adam22	T	C	5: 8,127,361	K583E	probably benign	Het
Akr1c13	T	C	13: 4,194,187	F80L	probably damaging	Het
Apob	A	T	12: 8,006,149	I1511F	possibly damaging	Het
Cfh	C	A	1: 140,144,023	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,949,724	S1114F	unknown	Het
Ctsj	T	C	13: 61,003,142	D168G	probably damaging	Het
Erf	T	C	7: 25,246,109	D79G	probably damaging	Het
Extl1	T	C	4: 134,357,772	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,095,187	E204G	probably damaging	Het
Fdx1l	C	A	9: 21,073,482	V9L	possibly damaging	Het
Gfer	G	T	17: 24,696,053	S5R	probably benign	Het
Gm15931	A	T	7: 4,281,565		noncoding transcript	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gm8251	T	C	1: 44,056,505	E1811G	possibly damaging	Het
Hacl1	A	T	14: 31,622,871	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,148,105	A612T	probably benign	Het
Hectd1	T	A	12: 51,764,114	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,528,980	L285P	probably damaging	Het
Igsf3	G	A	3: 101,425,480	V25I	probably benign	Het
Jade1	A	G	3: 41,613,792	H765R	probably benign	Het
Kcnv1	T	C	15: 45,114,567	D25G	unknown	Het
Klhl3	A	G	13: 58,005,184	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,684,871	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,619	C835Y	probably damaging	Het
Mgea5	T	C	19: 45,771,924	E265G	probably damaging	Het
Naa15	A	C	3: 51,460,026	D490A	probably damaging	Het
Nab2	T	A	10: 127,664,329	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,888,919	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,592,724		noncoding transcript	Het
Nol4l	T	G	2: 153,417,821	Q211P	probably damaging	Het
Olfr427	A	T	1: 174,099,773	H105L	probably damaging	Het
Olfr625-ps1	T	A	7: 103,683,039	M97K	probably damaging	Het
Pkhd1	T	C	1: 20,209,185	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,104,983	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,205,110	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,526,901	S10P	possibly damaging	Het
Raph1	G	A	1: 60,490,156		probably benign	Het
Rc3h2	A	G	2: 37,378,313	V935A	possibly damaging	Het
Reg4	T	A	3: 98,233,028	D108E	possibly damaging	Het
Saraf	T	A	8: 34,165,450	Y228N	probably damaging	Het
Sctr	T	C	1: 120,056,407	S357P	probably damaging	Het
Sec22b	A	T	3: 97,914,568	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,250,957	I1037F	probably damaging	Het
Skint5	A	C	4: 113,763,503	S671R	unknown	Het
Slc38a3	C	A	9: 107,658,749	E62*	probably null	Het
Slfn14	C	T	11: 83,283,599	E189K	probably damaging	Het
Sox21	A	G	14: 118,235,244	L131P	probably damaging	Het
Stip1	A	G	19: 7,022,025		probably null	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363		probably benign	Het
Tdrd7	T	A	4: 46,005,689	D498E	probably benign	Het
Tln2	C	T	9: 67,258,250	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,454,754	D103G	probably damaging	Het
Txndc15	A	G	13: 55,718,107	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,637,714	W306R	probably damaging	Het
Yjefn3	A	T	8: 69,889,471	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,289,010	D244G	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
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
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'- GGCCAAAGCTCTGGAGAATAC -3'
(R):5'- ACTATGCTCATCTGCAGACAGG -3'

Sequencing Primer
(F):5'- TCTGGAGAATACCCTGCTGGAATC -3'
(R):5'- ACAGGCTGGCAGGCATTAC -3'

Posted On

2016-12-15