Mutagenetix > Incidental Mutations

Incidental Mutation 'R7039:Magi3'

546922

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104051383 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 462 (D462G)

Ref Sequence

ENSEMBL: ENSMUSP00000112934 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064371
AA Change: D462G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: D462G

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 damaging
Transcript: ENSMUST00000121198
AA Change: D462G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: D462G

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
AA Change: D462G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: D462G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,140,148	R462Q	possibly damaging	Het
Actl7b	A	T	4: 56,741,022	L112Q	probably damaging	Het
Agap3	A	C	5: 24,483,401	I396L	probably benign	Het
AI987944	G	T	7: 41,374,456	S366R	probably benign	Het
Aox3	A	G	1: 58,176,555	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,102,654	L407*	probably null	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Brd3	T	C	2: 27,456,917	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,802,401	D935V	probably damaging	Het
Cenpe	A	G	3: 135,255,456	N1904D	probably benign	Het
Cfap74	G	T	4: 155,454,108		probably null	Het
Chrdl2	A	G	7: 100,028,672	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,491,081	R400C	probably benign	Het
Dhfr	G	A	13: 92,355,283	V9I	probably benign	Het
Epha4	A	G	1: 77,506,785	S196P	probably damaging	Het
Evc2	T	A	5: 37,421,888	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,376,265	E654V	probably damaging	Het
Fer1l4	C	T	2: 156,036,730	V14I	probably benign	Het
Frmd5	A	T	2: 121,547,647		probably benign	Het
Helz	T	C	11: 107,619,318		probably null	Het
Igkv6-13	T	C	6: 70,457,514	S116G	probably benign	Het
Iscu	T	C	5: 113,776,772	V115A	possibly damaging	Het
Jade2	C	A	11: 51,828,359	K253N	probably damaging	Het
Katnal2	A	G	18: 77,047,172		probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Map3k14	T	C	11: 103,221,035	N940S	probably damaging	Het
Masp2	A	T	4: 148,602,586	M1L	probably benign	Het
Mga	G	A	2: 119,932,678	V1272I	probably benign	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Msto1	A	C	3: 88,911,390	V287G	probably damaging	Het
Myo5b	T	A	18: 74,701,528	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,567,942	T766S	probably benign	Het
Nol10	T	A	12: 17,429,184	S672T	possibly damaging	Het
Olfr1062	A	T	2: 86,422,833	I281K	possibly damaging	Het
Olfr1226	A	T	2: 89,193,446	I196N	probably damaging	Het
Olfr1253	A	T	2: 89,752,751	F26I	probably benign	Het
Olfr933	T	A	9: 38,975,987	F104I	probably damaging	Het
Patj	T	A	4: 98,569,078	N1272K	probably damaging	Het
Peak1	T	C	9: 56,257,809	E945G	probably benign	Het
Peg3	C	T	7: 6,717,859	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,676,890	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,107,785	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,395,228	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,312,115	S908L	probably damaging	Het
Psmc3	A	G	2: 91,055,046	N60S	probably benign	Het
Rapgef1	T	A	2: 29,726,214	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,761,568	H54L	probably benign	Het
Rhobtb3	G	A	13: 75,872,453	R577*	probably null	Het
Safb2	T	C	17: 56,564,594	E218G	possibly damaging	Het
Scaf1	C	T	7: 45,008,426	R343H	probably damaging	Het
Snx24	G	A	18: 53,340,235		probably null	Het
Tbc1d1	T	C	5: 64,284,757	F707L	probably benign	Het
Tcaf2	T	C	6: 42,626,140	T829A	probably damaging	Het
Tcea2	C	T	2: 181,686,918	Q248*	probably null	Het
Tcirg1	A	T	19: 3,896,666	L729Q	probably damaging	Het
Thap3	A	G	4: 151,985,692	F82L	probably damaging	Het
Ttk	T	A	9: 83,868,092	M700K	probably damaging	Het
Ubap2l	G	T	3: 90,002,355	P56H	probably damaging	Het
Ubr2	A	G	17: 47,010,213	S3P	probably benign	Het
Uchl3	C	T	14: 101,685,692		probably benign	Het
Vmn2r111	T	A	17: 22,548,184	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,386,123	D567E	probably damaging	Het
Vps13c	T	G	9: 67,937,763	L2043R	probably damaging	Het
Zan	T	G	5: 137,400,134	D4212A	unknown	Het
Zap70	C	T	1: 36,778,751	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,427,685	M461K	possibly damaging	Het
Zfat	T	G	15: 68,180,362	I528L	probably benign	Het
Zfp532	T	G	18: 65,638,763	V784G	probably benign	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
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
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'- ATTGCTCCCAGTTTAAAATCCTG -3'
(R):5'- AGCAAATGCATGTACTGTAAATCTC -3'

Sequencing Primer
(F):5'- AATCCTGAGTATTCATGCATGTCTC -3'
(R):5'- GCATGTACTGTAAATCTCTTTTCAAC -3'

Posted On

2019-05-13