Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Magi3'

172778

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

039668-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104051177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 531 (T531A)

Ref Sequence

ENSEMBL: ENSMUSP00000113713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064371
AA Change: T531A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: T531A

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: T531A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: T531A

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: T531A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: T531A

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	C	A	13: 105,082,241	Q28K	probably benign	Het
Adamts10	T	A	17: 33,537,342	S320T	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Als2	T	C	1: 59,218,067	E12G	probably benign	Het
Arhgef10	A	T	8: 14,947,157	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,749,052		probably null	Het
Avil	A	G	10: 127,010,625		probably null	Het
C2cd3	G	A	7: 100,372,497		probably null	Het
Col18a1	G	A	10: 77,059,297	P1177S	probably damaging	Het
Copb2	T	A	9: 98,580,160	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,924	E138G	probably damaging	Het
Ctsm	T	C	13: 61,538,435	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,197,596	Q967R	possibly damaging	Het
Dok2	T	C	14: 70,776,953	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,577,658	M1I	probably null	Het
Fkbp8	T	A	8: 70,531,632	L210Q	probably damaging	Het
Fpr1	T	A	17: 17,877,001	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,940,783	D243E	probably damaging	Het
Gm281	C	T	14: 13,829,796	E649K	probably damaging	Het
Gm5422	A	G	10: 31,249,806		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,622,077	V79G	probably damaging	Het
Htr6	A	T	4: 139,061,493	V417E	probably benign	Het
Ifnar2	G	A	16: 91,391,867	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,479,482		probably benign	Het
Itpr2	A	G	6: 146,180,290	F182L	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama3	A	G	18: 12,407,494	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,158,934	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,361,254		probably null	Het
Mapre2	A	G	18: 23,832,954	Y32C	probably damaging	Het
Med1	C	T	11: 98,155,626		probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Olfr1351	A	T	10: 79,017,405	I28L	probably benign	Het
Olfr191	G	A	16: 59,086,045	T146I	probably benign	Het
Olfr516	A	C	7: 108,845,857	L51R	probably damaging	Het
Olfr555	A	G	7: 102,659,201	I127V	probably damaging	Het
Pde1b	A	G	15: 103,521,672	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,522,897	D1664G	probably benign	Het
Plod3	C	T	5: 136,988,993	R208W	probably damaging	Het
Pstk	G	A	7: 131,384,542	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,534,485	V403A	probably damaging	Het
Rad21	C	A	15: 51,970,040	V348F	probably damaging	Het
Sacs	T	A	14: 61,210,732	L3409*	probably null	Het
Setd4	T	A	16: 93,593,248	K98*	probably null	Het
Skint5	A	G	4: 113,483,926	V1385A	probably benign	Het
Stam	C	A	2: 14,146,248	S472*	probably null	Het
Stx2	A	G	5: 128,992,225	F141L	probably damaging	Het
Tia1	A	G	6: 86,420,348	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,954,162		probably null	Het
Usp34	T	A	11: 23,460,651	N2700K	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
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
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'- GGAACATCTGCACCTACTGGGAAC -3'
(R):5'- TCAATGGCAACTGTGTCCTTGGTC -3'

Sequencing Primer
(F):5'- CCTACTGGGAACTGCTTTAGGAC -3'
(R):5'- GTCACACCCATGCAGATGTTG -3'

Posted On

2014-04-24