Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Magi3'

194035

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

039779-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104034173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 822 (D822G)

Ref Sequence

ENSEMBL: ENSMUSP00000113713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064371
AA Change: D822G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: D822G

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: D822G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: D822G

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

possibly damaging
Transcript: ENSMUST00000122303
AA Change: D822G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: D822G

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

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,558,814	S117N	probably damaging	Het
A830010M20Rik	T	C	5: 107,451,999	S119P	probably damaging	Het
Acat3	A	G	17: 12,924,808	I349T	possibly damaging	Het
Add3	A	G	19: 53,242,550	N552S	probably benign	Het
Ak3	G	T	19: 29,022,861	P217T	possibly damaging	Het
Aox2	A	T	1: 58,339,592	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,305,686	M118T	probably damaging	Het
Arhgap28	C	A	17: 67,901,309	A105S	probably benign	Het
Arhgef28	T	C	13: 97,936,824	E1368G	probably damaging	Het
Armc7	G	A	11: 115,488,757	V94I	probably benign	Het
Asxl1	C	A	2: 153,393,454	T223N	possibly damaging	Het
Cltc	T	C	11: 86,707,081	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,584,915	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,816,670		probably benign	Het
Cyp3a59	A	G	5: 146,104,758	I371V	probably benign	Het
Dennd4c	T	C	4: 86,807,438	F710L	probably damaging	Het
Diaph3	T	C	14: 87,073,337	D126G	probably damaging	Het
Dnm3	G	A	1: 162,313,584	R369C	probably damaging	Het
Dst	A	C	1: 34,160,709	Q86P	probably damaging	Het
Ern2	C	A	7: 122,173,819		probably null	Het
Ern2	T	A	7: 122,173,820		probably null	Het
Exoc6	T	A	19: 37,639,769		probably null	Het
Glg1	G	A	8: 111,197,673	R228C	probably damaging	Het
Gm4736	G	A	6: 132,115,670		noncoding transcript	Het
Hmcn2	G	C	2: 31,457,985	G4881A	probably benign	Het
Htr2a	T	G	14: 74,706,153	F391C	probably damaging	Het
Htr5b	A	T	1: 121,527,918	V91E	probably damaging	Het
Ifi44	T	A	3: 151,749,285	H101L	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,947,028	H608L	probably benign	Het
Lrp4	T	C	2: 91,492,621	V1150A	probably damaging	Het
Lyst	T	C	13: 13,757,422	F3545S	probably benign	Het
Nbas	G	A	12: 13,335,898	S721N	probably benign	Het
Nog	T	A	11: 89,301,582	M147L	probably benign	Het
Npr1	C	T	3: 90,458,669	C605Y	possibly damaging	Het
Olfr1053	G	A	2: 86,314,867	L140F	probably benign	Het
Olfr866	A	C	9: 20,027,317	V207G	probably benign	Het
Pgs1	A	G	11: 118,001,631	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,337,730		probably benign	Het
Prdm14	C	T	1: 13,122,403	V371I	possibly damaging	Het
Prom1	C	T	5: 44,007,031	V703I	probably benign	Het
Ptprk	A	G	10: 28,354,692	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,760,463	I390F	probably damaging	Het
Scrt2	C	T	2: 152,093,718	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,145,545	E661K	possibly damaging	Het
Skiv2l	G	T	17: 34,847,806	P162H	probably benign	Het
Slc10a5	G	T	3: 10,335,391	Q70K	probably benign	Het
Smg8	A	G	11: 87,085,303	V484A	possibly damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Stag1	T	A	9: 100,888,300	S630T	probably benign	Het
Thyn1	A	C	9: 27,005,213	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,307,015	R203G	possibly damaging	Het
Ttn	T	C	2: 76,878,516		probably benign	Het
Vmn1r236	C	T	17: 21,286,917	S99L	probably benign	Het
Vmn2r50	T	A	7: 10,047,678	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,858,167	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,774,333	S168P	probably benign	Het
Zc3h7a	A	G	16: 11,145,253	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,770,217	E913Q	probably benign	Het
Zfp974	G	T	7: 27,911,081	F406L	possibly damaging	Het
Zic4	G	A	9: 91,384,146	C274Y	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
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
R5509:Magi3	UTSW	3	104015502	missense	probably benign	0.00
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
R8762:Magi3	UTSW	3	104050853	missense	probably damaging	1.00
R8826:Magi3	UTSW	3	104085346	missense	probably benign	0.00
R8847:Magi3	UTSW	3	104015018	missense	probably benign	0.09
R8892:Magi3	UTSW	3	104050825	missense	probably damaging	1.00
R8939:Magi3	UTSW	3	104089432	intron	probably benign
R9090:Magi3	UTSW	3	104015948	missense	possibly damaging	0.68
R9187:Magi3	UTSW	3	104015757	missense	possibly damaging	0.76
R9271:Magi3	UTSW	3	104015948	missense	possibly damaging	0.68
R9433:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9439:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104017617	missense	probably damaging	1.00
R9697:Magi3	UTSW	3	104049142	critical splice donor site	probably null
R9796:Magi3	UTSW	3	104020975	missense	probably benign
X0026:Magi3	UTSW	3	104020420	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGGCAAGGTTTTCTATTTCCCAG -3'
(R):5'- ACCTGTGCTTTGATTAGGCCCAG -3'

Sequencing Primer
(F):5'- CTAAGGTTGTTGGGtttttttttttg -3'
(R):5'- GATTAGGCCCAGTATTCTCAAGG -3'

Posted On

2014-05-23