Mutagenetix > Incidental Mutation

Incidental Mutation 'R6324:Gm3404'

510650

Institutional Source

Beutler Lab

Gene Symbol

Gm3404

Ensembl Gene

ENSMUSG00000079091

Gene Name

predicted gene 3404

Synonyms

MMRRC Submission

044478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146462611-146465363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146464917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 219 (Q219L)

Ref Sequence

ENSEMBL: ENSMUSP00000106226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110596]

AlphaFold

Q9D506

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110596
AA Change: Q219L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106226
Gene: ENSMUSG00000079091
AA Change: Q219L

Domain	Start	End	E-Value	Type
RasGEFN	66	181	2.8e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp13a3	A	G	16: 30,151,103 (GRCm39)	V1069A	possibly damaging	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2b	A	G	2: 59,737,292 (GRCm39)	S1877P	probably damaging	Het
Ccdc27	A	T	4: 154,120,648 (GRCm39)	S383T	probably benign	Het
Cr1l	A	G	1: 194,793,430 (GRCm39)	V377A	probably benign	Het
Dazap1	A	G	10: 80,113,494 (GRCm39)	E130G	probably benign	Het
Dchs1	G	T	7: 105,414,145 (GRCm39)	A890E	probably benign	Het
Dock10	G	A	1: 80,482,893 (GRCm39)	T2143I	probably benign	Het
Eif3j1	A	G	2: 121,871,659 (GRCm39)	D60G	probably benign	Het
Enah	A	G	1: 181,746,136 (GRCm39)	S382P	probably damaging	Het
Fam171b	A	T	2: 83,709,608 (GRCm39)	K427*	probably null	Het
Fmn2	A	T	1: 174,440,119 (GRCm39)	I1179L	possibly damaging	Het
Focad	C	T	4: 88,319,305 (GRCm39)	R1505*	probably null	Het
Frem1	T	C	4: 82,901,574 (GRCm39)	T985A	probably benign	Het
Gm5592	A	C	7: 40,935,959 (GRCm39)	S154R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,815,365 (GRCm39)	E586G	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Lin7a	T	A	10: 107,216,076 (GRCm39)		probably null	Het
Loxl4	G	A	19: 42,583,817 (GRCm39)	L745F	probably benign	Het
Ms4a19	T	A	19: 11,140,811 (GRCm39)	M3L	probably benign	Het
Mybpc1	A	G	10: 88,404,481 (GRCm39)	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,647,161 (GRCm39)	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 27,060,095 (GRCm39)	P79A	probably benign	Het
Nufip2	A	G	11: 77,582,487 (GRCm39)	T134A	probably benign	Het
Odad1	A	G	7: 45,591,134 (GRCm39)	E203G	probably damaging	Het
Or13p4	G	A	4: 118,547,728 (GRCm39)		probably benign	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or5b109	A	G	19: 13,212,468 (GRCm39)	M285V	possibly damaging	Het
Phkb	A	G	8: 86,745,171 (GRCm39)	D616G	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prl7b1	A	T	13: 27,786,878 (GRCm39)		probably null	Het
Prop1	G	A	11: 50,843,026 (GRCm39)	P54S	probably benign	Het
Ptcd3	C	T	6: 71,862,311 (GRCm39)	V509I	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rapgef2	C	T	3: 78,986,439 (GRCm39)	V1182I	probably benign	Het
Rfx7	C	A	9: 72,525,696 (GRCm39)	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc38a9	A	G	13: 112,862,634 (GRCm39)	I444M	probably benign	Het
Sorbs1	T	C	19: 40,310,263 (GRCm39)	T492A	probably damaging	Het
Synj1	A	T	16: 90,735,518 (GRCm39)	S1478R	probably benign	Het
Tnn	T	A	1: 159,972,774 (GRCm39)	N276I	probably damaging	Het
Trbv19	G	A	6: 41,155,692 (GRCm39)	G21D	probably damaging	Het
Ube2o	A	T	11: 116,430,185 (GRCm39)	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,691,977 (GRCm39)	L182*	probably null	Het
Vmn2r15	A	G	5: 109,434,137 (GRCm39)	*856R	probably null	Het
Vmn2r70	G	A	7: 85,208,087 (GRCm39)	H797Y	probably benign	Het
Zfp11	C	T	5: 129,733,587 (GRCm39)	A625T	possibly damaging	Het

Other mutations in Gm3404

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Gm3404	APN	5	146,465,095 (GRCm39)	missense	probably damaging	0.98
IGL01611:Gm3404	APN	5	146,465,157 (GRCm39)	missense	possibly damaging	0.46
IGL02721:Gm3404	APN	5	146,463,738 (GRCm39)	nonsense	probably null
IGL03134:Gm3404	UTSW	5	146,463,706 (GRCm39)	missense	probably benign
R1758:Gm3404	UTSW	5	146,463,036 (GRCm39)	missense	probably benign	0.02
R6641:Gm3404	UTSW	5	146,464,518 (GRCm39)	missense	probably damaging	0.97
R6671:Gm3404	UTSW	5	146,464,487 (GRCm39)	missense	probably benign	0.05
R7042:Gm3404	UTSW	5	146,462,969 (GRCm39)	missense	probably benign
R8331:Gm3404	UTSW	5	146,462,759 (GRCm39)	missense	probably damaging	0.97
R8395:Gm3404	UTSW	5	146,462,724 (GRCm39)	missense	possibly damaging	0.79
R8547:Gm3404	UTSW	5	146,465,108 (GRCm39)	missense	possibly damaging	0.92
R8874:Gm3404	UTSW	5	146,464,953 (GRCm39)	missense	possibly damaging	0.95
R9280:Gm3404	UTSW	5	146,462,756 (GRCm39)	missense	possibly damaging	0.46
R9671:Gm3404	UTSW	5	146,463,031 (GRCm39)	missense	probably benign	0.04
Z1177:Gm3404	UTSW	5	146,463,026 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGACTGGGGATCTTCTGTC -3'
(R):5'- TGCCTGGCAGGTGAAACATC -3'

Sequencing Primer
(F):5'- GGATCTTCTGTCATGAAAAGGCC -3'
(R):5'- AGGTGAAACATCTGCAGCC -3'

Posted On

2018-04-02