Mutagenetix > Incidental Mutations

Incidental Mutation 'R3083:Gm15446'

264065

Institutional Source

Beutler Lab

Gene Symbol

Gm15446

Ensembl Gene

ENSMUSG00000090015

Gene Name

predicted gene 15446

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3083 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

109923400-109943936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109943292 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 470 (N470S)

Ref Sequence

ENSEMBL: ENSMUSP00000108163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112544] [ENSMUST00000170826]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112544
AA Change: N470S

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: N470S

Domain	Start	End	E-Value	Type
KRAB	4	60	1.74e-14	SMART
ZnF_C2H2	103	125	1.1e-2	SMART
ZnF_C2H2	131	153	1.67e-2	SMART
ZnF_C2H2	159	181	4.87e-4	SMART
ZnF_C2H2	187	209	3.39e-3	SMART
ZnF_C2H2	215	237	1.76e-1	SMART
ZnF_C2H2	243	265	1.3e-4	SMART
ZnF_C2H2	271	293	1.1e-2	SMART
ZnF_C2H2	299	321	2.27e-4	SMART
ZnF_C2H2	327	349	6.99e-5	SMART
ZnF_C2H2	355	377	5.21e-4	SMART
ZnF_C2H2	383	405	9.73e-4	SMART
ZnF_C2H2	411	433	3.39e-3	SMART
ZnF_C2H2	439	461	1.58e-3	SMART
ZnF_C2H2	467	489	5.14e-3	SMART
ZnF_C2H2	495	517	2.61e-4	SMART
ZnF_C2H2	523	545	3.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146564

Predicted Effect

probably benign
Transcript: ENSMUST00000170826

SMART Domains

Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015

Domain	Start	End	E-Value	Type
KRAB	3	59	1.74e-14	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 107,023,715	V341A	possibly damaging	Het
Armc2	T	C	10: 41,966,730	D359G	probably damaging	Het
Cdh6	T	C	15: 13,044,752	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,906,081	N1441D	probably benign	Het
Fbln1	T	G	15: 85,265,253	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Grin3a	G	A	4: 49,665,243	R1131W	probably benign	Het
Hist3h2ba	A	G	11: 58,948,976	K13E	probably benign	Het
Incenp	T	A	19: 9,883,779	M480L	unknown	Het
Lrp1b	A	T	2: 40,600,324	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,363,218	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,430,163	F885S	probably benign	Het
Olfr102	T	C	17: 37,314,195	N63S	probably damaging	Het
Olfr1228	A	C	2: 89,249,001	V231G	probably damaging	Het
Olfr917	A	G	9: 38,665,616	V76A	probably damaging	Het
Plcl2	T	A	17: 50,687,744	N1080K	probably benign	Het
Rab3gap2	T	A	1: 185,204,269	S10T	probably benign	Het
Rtca	G	A	3: 116,508,025		probably benign	Het
Scn1a	A	G	2: 66,299,637	F1278S	probably damaging	Het
Slitrk3	T	C	3: 73,048,595	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567	D251G	probably damaging	Het
Ssh3	C	T	19: 4,262,559	R586H	probably benign	Het
Tomm40l	A	T	1: 171,221,211	L78H	probably damaging	Het
Vmn2r4	A	G	3: 64,389,367	S666P	probably damaging	Het

Other mutations in Gm15446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Gm15446	APN	5	109940802	makesense	probably null
R0278:Gm15446	UTSW	5	109943415	missense	probably benign	0.14
R0606:Gm15446	UTSW	5	109943481	missense	probably benign
R1608:Gm15446	UTSW	5	109942457	missense	probably damaging	1.00
R1874:Gm15446	UTSW	5	109942553	missense	probably damaging	0.99
R1892:Gm15446	UTSW	5	109943387	missense	probably damaging	1.00
R2000:Gm15446	UTSW	5	109942811	missense	possibly damaging	0.67
R2059:Gm15446	UTSW	5	109942496	missense	probably damaging	1.00
R3883:Gm15446	UTSW	5	109940447	missense	probably damaging	0.98
R4086:Gm15446	UTSW	5	109943255	missense	probably benign	0.02
R4095:Gm15446	UTSW	5	109940724	splice site	probably null
R4459:Gm15446	UTSW	5	109943241	missense	probably benign	0.03
R4721:Gm15446	UTSW	5	109943000	missense	probably damaging	1.00
R4735:Gm15446	UTSW	5	109942952	missense	probably damaging	1.00
R5229:Gm15446	UTSW	5	109943170	missense	probably damaging	1.00
R5502:Gm15446	UTSW	5	109940498	nonsense	probably null
R6116:Gm15446	UTSW	5	109943036	missense	probably damaging	1.00
R6166:Gm15446	UTSW	5	109942780	nonsense	probably null
R6322:Gm15446	UTSW	5	109943517	missense	probably damaging	1.00
R7871:Gm15446	UTSW	5	109943299	nonsense	probably null
R7939:Gm15446	UTSW	5	109942494	missense	probably benign	0.22
R8045:Gm15446	UTSW	5	109940528	missense	probably damaging	1.00
R8069:Gm15446	UTSW	5	109940440	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGTAAAGCCTTTGCCTCT -3'
(R):5'- AGGCTTTACCACATTGATCACAT -3'

Sequencing Primer
(F):5'- TTCATACTGGCGAGAAACCTTAC -3'
(R):5'- CCACATTGATCACATTTGTAGGG -3'

Posted On

2015-02-05