Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Gm6408'

544765

Institutional Source

Beutler Lab

Gene Symbol

Gm6408

Ensembl Gene

ENSMUSG00000096344

Gene Name

predicted gene 6408

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146481965-146484704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146483837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 176 (E176K)

Ref Sequence

ENSEMBL: ENSMUSP00000136735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179032]

AlphaFold

J3QNG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000179032
AA Change: E176K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136735
Gene: ENSMUSG00000096344
AA Change: E176K

Domain	Start	End	E-Value	Type
RasGEFN	66	182	4.47e-3	SMART
low complexity region	270	292	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 36,095,164	T57I	probably benign	Het
Adcy8	T	C	15: 64,704,716	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,536,364	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,866,476	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881	I309N	probably benign	Het
Ankrd36	A	G	11: 5,689,168	E1360G	probably benign	Het
Aox2	C	A	1: 58,330,892	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,673,357	D26E	possibly damaging	Het
Bbx	G	A	16: 50,202,488	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,364,071	Y215H	probably benign	Het
C3	C	T	17: 57,218,809	E858K	probably benign	Het
Ciita	T	C	16: 10,511,307	L482P	probably damaging	Het
Cldn9	T	C	17: 23,683,078	E191G	probably benign	Het
Cnst	T	A	1: 179,610,568	S566T	probably damaging	Het
Col5a2	A	G	1: 45,378,449	I1322T	possibly damaging	Het
Cp	G	A	3: 19,969,973	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,097,618	Q144*	probably null	Het
Dnah10	T	C	5: 124,787,426	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,118,871	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,532,750	D794E	probably benign	Het
Dusp10	G	A	1: 184,037,217	V127M	probably benign	Het
Dysf	G	C	6: 84,113,980	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,423,772	Y104H	probably damaging	Het
Gp1bb	T	A	16: 18,620,939	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,738,256	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,520,620	M30L	possibly damaging	Het
Hhat	G	A	1: 192,693,826	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,510,494	F336S	probably damaging	Het
Ippk	T	G	13: 49,436,705		probably null	Het
Jph1	T	A	1: 17,004,186	H11L	possibly damaging	Het
Kif12	T	A	4: 63,166,480	I534L	probably benign	Het
Lemd3	A	T	10: 120,952,232	F523I	probably benign	Het
Lgsn	C	A	1: 31,190,427	H76Q	probably benign	Het
Lipm	T	A	19: 34,112,097	W152R	probably damaging	Het
Mei1	A	T	15: 82,093,999	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,553,412	G379S	probably damaging	Het
Myh8	A	G	11: 67,288,316	T512A	probably benign	Het
Nf1	A	G	11: 79,447,023		probably null	Het
Npc1	T	C	18: 12,210,548	T463A	probably benign	Het
Olfr1145	A	G	2: 87,809,886	N22S	probably damaging	Het
Olfr1383	G	A	11: 49,524,184	V154M	probably benign	Het
Olfr789	A	T	10: 129,487,408	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,226,939	I424R	possibly damaging	Het
Pnmal2	A	T	7: 16,946,256	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,451,159	K267I	probably damaging	Het
Psmb5	A	T	14: 54,616,709	M104K	probably damaging	Het
Ptges2	T	C	2: 32,402,306	V378A	probably benign	Het
Rcan2	C	T	17: 43,836,325	S18F	probably benign	Het
Sf3b2	C	T	19: 5,274,517	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,352,446			Het
Spata31d1a	T	A	13: 59,703,634	T227S	probably benign	Het
Sptbn2	T	A	19: 4,744,145	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,319,537	I586V	probably benign	Het
St6galnac1	G	A	11: 116,767,007	R356*	probably null	Het
Taf5	T	A	19: 47,071,211	F265I	probably damaging	Het
Tex45	A	T	8: 3,476,309	D154V	probably damaging	Het
Tkfc	T	A	19: 10,596,363	I229L	probably benign	Het
Tmem132c	T	A	5: 127,359,615	L56Q	probably damaging	Het
Togaram2	C	T	17: 71,709,643	A665V	probably damaging	Het
Ttn	G	A	2: 76,707,046	T34846I	probably benign	Het
Tyr	G	A	7: 87,493,340	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221	F549L	probably damaging	Het
Usp2	T	C	9: 44,090,042	S294P	probably damaging	Het
Vrk3	A	G	7: 44,757,763	N53D	probably damaging	Het
Zfp324	T	C	7: 12,971,215	S444P	probably damaging	Het
Zfp597	T	C	16: 3,865,927	I322V	probably benign	Het

Other mutations in Gm6408

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Gm6408	APN	5	146482129	splice site	probably benign
IGL01806:Gm6408	APN	5	146482082	missense	probably damaging	1.00
R0211:Gm6408	UTSW	5	146483060	missense	probably benign	0.04
R1763:Gm6408	UTSW	5	146482322	missense	probably damaging	1.00
R3745:Gm6408	UTSW	5	146484436	missense	probably damaging	1.00
R4393:Gm6408	UTSW	5	146482337	missense	probably damaging	1.00
R5586:Gm6408	UTSW	5	146484457	missense	possibly damaging	0.71
R5734:Gm6408	UTSW	5	146482382	missense	probably benign	0.07
R5999:Gm6408	UTSW	5	146484257	missense	possibly damaging	0.86
R6181:Gm6408	UTSW	5	146483772	missense	possibly damaging	0.84
R7063:Gm6408	UTSW	5	146483784	missense	probably benign	0.01
R7224:Gm6408	UTSW	5	146484370	missense	probably benign	0.10
R7734:Gm6408	UTSW	5	146484350	nonsense	probably null
R8676:Gm6408	UTSW	5	146482427	missense	probably benign	0.02
R8847:Gm6408	UTSW	5	146483792	missense	probably benign	0.20
R9758:Gm6408	UTSW	5	146483818	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CAAGGCCAGGGTTCTGATTC -3'
(R):5'- GGCCTTTTCATGACAGAAGATCC -3'

Sequencing Primer
(F):5'- AGGCCAGGGTTCTGATTCAACTTC -3'
(R):5'- ACAGTGGATCATCTTCCCTGACTG -3'

Posted On

2019-05-13