Mutagenetix > Incidental Mutations

Incidental Mutation 'R5509:Magi3'

431062

Institutional Source

Beutler Lab

Gene Symbol

Magi3

Ensembl Gene

ENSMUSG00000052539

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 3

Synonyms

4732496O19Rik, 6530407C02Rik

MMRRC Submission

043070-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104015502 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1300 (S1300T)

Ref Sequence

ENSEMBL: ENSMUSP00000112934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064371] [ENSMUST00000121198] [ENSMUST00000122303] [ENSMUST00000145727]

Predicted Effect

probably benign
Transcript: ENSMUST00000064371

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121198
AA Change: S1300T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: S1300T

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122303

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145727

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388

Domain	Start	End	E-Value	Type
Pfam:Phtf-FEM1B_bdg	3	158	1.6e-88	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	347	370	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	512	534	N/A	INTRINSIC
transmembrane domain	610	632	N/A	INTRINSIC
transmembrane domain	647	664	N/A	INTRINSIC

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
Abcc10	G	C	17: 46,324,259	Q273E	probably benign	Het
Acly	C	T	11: 100,514,979	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,573,617	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,681,357	I515N	probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,639,937	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,114,576	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,840,316	W496R	probably damaging	Het
Cflar	T	C	1: 58,752,392	F285L	probably benign	Het
Cox16	T	C	12: 81,472,258	T176A	probably benign	Het
Cux1	G	T	5: 136,275,317	A1214D	probably benign	Het
Cyb5d1	C	A	11: 69,393,735		probably null	Het
Dennd6b	G	A	15: 89,185,022	P575S	probably damaging	Het
Fbxl2	A	T	9: 113,985,347		probably null	Het
Gfpt2	T	C	11: 49,827,146	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,445,022	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337	V281M	probably damaging	Het
Kif13a	G	A	13: 46,752,115	A784V	probably benign	Het
Kmt2d	T	C	15: 98,839,676		probably benign	Het
Lmod2	A	G	6: 24,603,889	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,500,535	K1355E	probably benign	Het
Mdm2	A	C	10: 117,690,612	D307E	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,606,154	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,253,807		probably null	Het
Mug2	A	T	6: 122,084,381	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,884,320	Q459R	probably benign	Het
Nle1	T	C	11: 82,903,182	R343G	possibly damaging	Het
Npat	C	A	9: 53,570,242	N1083K	probably benign	Het
Nrp1	G	A	8: 128,425,915	G202R	possibly damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr1427	T	A	19: 12,098,977	I221F	possibly damaging	Het
Olfr1472	A	T	19: 13,453,968	L183Q	probably damaging	Het
Olfr32	T	A	2: 90,138,892	L82F	probably damaging	Het
Olfr935	T	C	9: 38,994,628	D269G	probably benign	Het
Podxl	A	T	6: 31,526,613	N264K	probably benign	Het
Ptprm	C	T	17: 66,689,358	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,210,784		probably null	Het
Ryr2	T	A	13: 11,745,601	Y1532F	probably damaging	Het
Senp2	T	C	16: 22,040,522	F441S	probably damaging	Het
Snap23	C	A	2: 120,594,865	P111T	probably benign	Het
Sox2	A	G	3: 34,650,789	D125G	probably damaging	Het
Syne2	T	C	12: 75,921,244	W923R	probably damaging	Het
Tbc1d2b	T	C	9: 90,218,969	E656G	probably damaging	Het
Tbcd	A	G	11: 121,602,012	T892A	probably benign	Het
Tg	A	G	15: 66,827,293	I24V	probably benign	Het
Trpm3	A	T	19: 22,987,258	K1372N	probably damaging	Het
Ubc	A	T	5: 125,387,275	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,278,422	H409L	probably damaging	Het
Wdfy3	T	A	5: 101,861,448	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,915,401	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,779,087	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,246,521	R2027W	probably damaging	Het

Other mutations in Magi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Magi3	APN	3	104014978	missense	probably damaging	1.00
IGL00933:Magi3	APN	3	104015847	missense	probably benign
IGL01151:Magi3	APN	3	104051374	missense	probably damaging	1.00
IGL01674:Magi3	APN	3	104105721	splice site	probably benign
IGL01790:Magi3	APN	3	104085244	missense	probably damaging	1.00
IGL01903:Magi3	APN	3	104051210	missense	possibly damaging	0.87
IGL01939:Magi3	APN	3	104054462	missense	probably damaging	0.99
IGL02142:Magi3	APN	3	104015903	missense	probably benign	0.32
IGL02183:Magi3	APN	3	104085347	missense	probably benign	0.01
IGL02887:Magi3	APN	3	104095157	missense	probably damaging	1.00
IGL03071:Magi3	APN	3	104015886	missense	possibly damaging	0.51
IGL03085:Magi3	APN	3	104015339	missense	possibly damaging	0.88
IGL03192:Magi3	APN	3	104043246	missense	probably damaging	1.00
IGL03204:Magi3	APN	3	104105835	missense	probably damaging	1.00
IGL03227:Magi3	APN	3	104051119	missense	probably benign
IGL03388:Magi3	APN	3	104015841	missense	probably benign	0.30
PIT4280001:Magi3	UTSW	3	104054352	missense	probably damaging	1.00
PIT4504001:Magi3	UTSW	3	104015526	missense	probably benign	0.05
R0092:Magi3	UTSW	3	104050964	nonsense	probably null
R0514:Magi3	UTSW	3	104015022	missense	probably damaging	1.00
R0569:Magi3	UTSW	3	104016042	missense	probably benign	0.43
R0608:Magi3	UTSW	3	104017557	missense	probably damaging	1.00
R0920:Magi3	UTSW	3	104034191	splice site	probably null
R1173:Magi3	UTSW	3	104061630	critical splice donor site	probably null
R1256:Magi3	UTSW	3	104027810	missense	probably benign	0.08
R1391:Magi3	UTSW	3	104015058	nonsense	probably null
R1559:Magi3	UTSW	3	104046853	splice site	probably benign
R1568:Magi3	UTSW	3	104089527	missense	probably benign	0.02
R1631:Magi3	UTSW	3	104051177	missense	probably benign	0.05
R1747:Magi3	UTSW	3	104034173	missense	possibly damaging	0.82
R1930:Magi3	UTSW	3	104089604	missense	probably damaging	1.00
R1964:Magi3	UTSW	3	104020402	missense	probably damaging	0.99
R2151:Magi3	UTSW	3	104046882	missense	probably damaging	1.00
R2151:Magi3	UTSW	3	104085238	missense	probably damaging	1.00
R2266:Magi3	UTSW	3	104021066	intron	probably benign
R2267:Magi3	UTSW	3	104021066	intron	probably benign
R2268:Magi3	UTSW	3	104021066	intron	probably benign
R2519:Magi3	UTSW	3	104015765	missense	probably benign	0.00
R3104:Magi3	UTSW	3	104051320	missense	probably damaging	0.99
R3105:Magi3	UTSW	3	104051320	missense	probably damaging	0.99
R3619:Magi3	UTSW	3	104054405	missense	probably damaging	1.00
R4158:Magi3	UTSW	3	104050961	missense	probably damaging	1.00
R4160:Magi3	UTSW	3	104050961	missense	probably damaging	1.00
R4284:Magi3	UTSW	3	104015868	nonsense	probably null
R4285:Magi3	UTSW	3	104015868	nonsense	probably null
R4397:Magi3	UTSW	3	104219714	missense	probably damaging	1.00
R4512:Magi3	UTSW	3	104089555	missense	probably damaging	0.99
R4676:Magi3	UTSW	3	104015825	missense	probably benign
R4758:Magi3	UTSW	3	104015321	missense	probably benign	0.01
R4940:Magi3	UTSW	3	104051392	missense	probably damaging	1.00
R5039:Magi3	UTSW	3	104105791	missense	probably damaging	1.00
R5160:Magi3	UTSW	3	104027908	missense	possibly damaging	0.46
R5422:Magi3	UTSW	3	104051368	missense	probably damaging	1.00
R5839:Magi3	UTSW	3	104219731	missense	probably damaging	1.00
R5924:Magi3	UTSW	3	104054538	splice site	probably null
R6018:Magi3	UTSW	3	104105812	missense	probably damaging	1.00
R6189:Magi3	UTSW	3	104050865	missense	probably damaging	1.00
R6235:Magi3	UTSW	3	104016068	missense	probably damaging	0.99
R6244:Magi3	UTSW	3	104015697	missense	probably benign	0.16
R6258:Magi3	UTSW	3	104089596	missense	probably damaging	1.00
R6358:Magi3	UTSW	3	104050952	missense	probably damaging	1.00
R6534:Magi3	UTSW	3	104085220	missense	possibly damaging	0.75
R6806:Magi3	UTSW	3	104046969	missense	possibly damaging	0.94
R6816:Magi3	UTSW	3	104089911	splice site	probably null
R6897:Magi3	UTSW	3	104089557	missense	probably damaging	1.00
R7011:Magi3	UTSW	3	104105754	missense	probably damaging	1.00
R7039:Magi3	UTSW	3	104051383	missense	probably damaging	1.00
R7196:Magi3	UTSW	3	104049168	missense	probably benign	0.01
R7237:Magi3	UTSW	3	104027911	missense	probably damaging	1.00
R7285:Magi3	UTSW	3	104034114	missense	probably benign	0.00
R7709:Magi3	UTSW	3	104034038	missense	probably damaging	1.00
R7724:Magi3	UTSW	3	104015927	missense	probably benign	0.04
R7797:Magi3	UTSW	3	104051302	missense	probably damaging	1.00
R7950:Magi3	UTSW	3	104016689	missense	probably damaging	1.00
R8140:Magi3	UTSW	3	104034086	missense	probably damaging	1.00
R8204:Magi3	UTSW	3	104051186	missense	probably benign
R8229:Magi3	UTSW	3	104015701	missense	possibly damaging	0.79
R8229:Magi3	UTSW	3	104015702	missense	probably benign	0.00
R8260:Magi3	UTSW	3	104015309	missense	probably benign	0.01
R8348:Magi3	UTSW	3	104051215	missense	probably damaging	1.00
R8368:Magi3	UTSW	3	104095063	critical splice donor site	probably null
R8543:Magi3	UTSW	3	104219668	missense	probably damaging	0.98
X0026:Magi3	UTSW	3	104020420	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATACTACCCTACCAGCAGTGC -3'
(R):5'- CCGACATTCAGAGGAACATTTGG -3'

Sequencing Primer
(F):5'- TGGATGGGAGAGATGTTTCATCAAC -3'
(R):5'- GATTCCCAGGCCCCTAAAAAGTG -3'

Posted On

2016-10-05