Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03227:Magi3'

414123

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magi3

Ensembl Gene

ENSMUSG00000052539

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 3

Synonyms

4732496O19Rik, 6530407C02Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

IGL03227

Quality Score

Status

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104051119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 550 (I550N)

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: I550N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: I550N

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: I550N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: I550N

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: I550N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: I550N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	T	1: 25,547,475 (GRCm38)	G172E	probably damaging	Het
Alas2	A	G	X: 150,557,266 (GRCm38)	K151E	probably damaging	Het
Apob	A	G	12: 8,016,089 (GRCm38)	T4353A	probably benign	Het
Arhgef1	C	A	7: 24,922,851 (GRCm38)	D554E	probably damaging	Het
Atad2b	T	A	12: 5,006,715 (GRCm38)	L857Q	probably damaging	Het
Atp2b4	C	A	1: 133,729,707 (GRCm38)		probably benign	Het
Bche	C	A	3: 73,701,612 (GRCm38)	K160N	probably damaging	Het
Bmx	A	G	X: 164,203,196 (GRCm38)	M537T	probably damaging	Het
Bysl	T	C	17: 47,611,092 (GRCm38)	N27S	probably benign	Het
Ccdc110	T	A	8: 45,941,549 (GRCm38)	L159H	probably damaging	Het
Cd34	G	A	1: 194,958,463 (GRCm38)	C212Y	probably damaging	Het
Erich2	C	T	2: 70,512,770 (GRCm38)		probably benign	Het
Fap	T	A	2: 62,530,763 (GRCm38)		probably null	Het
Fitm2	T	C	2: 163,469,532 (GRCm38)	T254A	probably benign	Het
Fscn3	T	C	6: 28,434,430 (GRCm38)	S335P	probably benign	Het
Grk2	C	T	19: 4,287,829 (GRCm38)	E508K	probably benign	Het
Lbr	T	C	1: 181,836,055 (GRCm38)		probably null	Het
Lct	A	T	1: 128,327,689 (GRCm38)	F205L	probably benign	Het
Med13	A	G	11: 86,327,792 (GRCm38)		probably benign	Het
Msh3	A	T	13: 92,285,960 (GRCm38)	S563T	probably damaging	Het
Msra	A	G	14: 64,313,743 (GRCm38)	V50A	probably benign	Het
Olfr843	A	G	9: 19,249,222 (GRCm38)	M59T	probably damaging	Het
Pcdhb13	T	A	18: 37,443,658 (GRCm38)	V363E	probably damaging	Het
Piezo2	G	A	18: 63,124,606 (GRCm38)	T347M	probably damaging	Het
Rapgef2	T	C	3: 79,092,613 (GRCm38)		probably benign	Het
Rtl9	A	C	X: 143,099,828 (GRCm38)	T79P	probably benign	Het
Slc15a2	A	G	16: 36,756,048 (GRCm38)		probably null	Het
Slc51a	G	A	16: 32,478,750 (GRCm38)	R110C	probably damaging	Het
Smurf1	G	T	5: 144,899,182 (GRCm38)	P123H	probably damaging	Het
Strn4	A	G	7: 16,837,714 (GRCm38)	T590A	possibly damaging	Het
Trpm6	T	C	19: 18,819,119 (GRCm38)	S780P	probably benign	Het
Trpm6	T	C	19: 18,786,779 (GRCm38)	Y250H	probably benign	Het
Zfp770	A	T	2: 114,197,089 (GRCm38)	C166*	probably null	Het

Other mutations in Magi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Magi3	APN	3	104,014,978 (GRCm38)	missense	probably damaging	1.00
IGL00933:Magi3	APN	3	104,015,847 (GRCm38)	missense	probably benign
IGL01151:Magi3	APN	3	104,051,374 (GRCm38)	missense	probably damaging	1.00
IGL01674:Magi3	APN	3	104,105,721 (GRCm38)	splice site	probably benign
IGL01790:Magi3	APN	3	104,085,244 (GRCm38)	missense	probably damaging	1.00
IGL01903:Magi3	APN	3	104,051,210 (GRCm38)	missense	possibly damaging	0.87
IGL01939:Magi3	APN	3	104,054,462 (GRCm38)	missense	probably damaging	0.99
IGL02142:Magi3	APN	3	104,015,903 (GRCm38)	missense	probably benign	0.32
IGL02183:Magi3	APN	3	104,085,347 (GRCm38)	missense	probably benign	0.01
IGL02887:Magi3	APN	3	104,095,157 (GRCm38)	missense	probably damaging	1.00
IGL03071:Magi3	APN	3	104,015,886 (GRCm38)	missense	possibly damaging	0.51
IGL03085:Magi3	APN	3	104,015,339 (GRCm38)	missense	possibly damaging	0.88
IGL03192:Magi3	APN	3	104,043,246 (GRCm38)	missense	probably damaging	1.00
IGL03204:Magi3	APN	3	104,105,835 (GRCm38)	missense	probably damaging	1.00
IGL03388:Magi3	APN	3	104,015,841 (GRCm38)	missense	probably benign	0.30
PIT4280001:Magi3	UTSW	3	104,054,352 (GRCm38)	missense	probably damaging	1.00
PIT4504001:Magi3	UTSW	3	104,015,526 (GRCm38)	missense	probably benign	0.05
R0092:Magi3	UTSW	3	104,050,964 (GRCm38)	nonsense	probably null
R0514:Magi3	UTSW	3	104,015,022 (GRCm38)	missense	probably damaging	1.00
R0569:Magi3	UTSW	3	104,016,042 (GRCm38)	missense	probably benign	0.43
R0608:Magi3	UTSW	3	104,017,557 (GRCm38)	missense	probably damaging	1.00
R0920:Magi3	UTSW	3	104,034,191 (GRCm38)	splice site	probably null
R1173:Magi3	UTSW	3	104,061,630 (GRCm38)	critical splice donor site	probably null
R1256:Magi3	UTSW	3	104,027,810 (GRCm38)	missense	probably benign	0.08
R1391:Magi3	UTSW	3	104,015,058 (GRCm38)	nonsense	probably null
R1559:Magi3	UTSW	3	104,046,853 (GRCm38)	splice site	probably benign
R1568:Magi3	UTSW	3	104,089,527 (GRCm38)	missense	probably benign	0.02
R1631:Magi3	UTSW	3	104,051,177 (GRCm38)	missense	probably benign	0.05
R1747:Magi3	UTSW	3	104,034,173 (GRCm38)	missense	possibly damaging	0.82
R1930:Magi3	UTSW	3	104,089,604 (GRCm38)	missense	probably damaging	1.00
R1964:Magi3	UTSW	3	104,020,402 (GRCm38)	missense	probably damaging	0.99
R2151:Magi3	UTSW	3	104,085,238 (GRCm38)	missense	probably damaging	1.00
R2151:Magi3	UTSW	3	104,046,882 (GRCm38)	missense	probably damaging	1.00
R2266:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2267:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2268:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2519:Magi3	UTSW	3	104,015,765 (GRCm38)	missense	probably benign	0.00
R3104:Magi3	UTSW	3	104,051,320 (GRCm38)	missense	probably damaging	0.99
R3105:Magi3	UTSW	3	104,051,320 (GRCm38)	missense	probably damaging	0.99
R3619:Magi3	UTSW	3	104,054,405 (GRCm38)	missense	probably damaging	1.00
R4158:Magi3	UTSW	3	104,050,961 (GRCm38)	missense	probably damaging	1.00
R4160:Magi3	UTSW	3	104,050,961 (GRCm38)	missense	probably damaging	1.00
R4284:Magi3	UTSW	3	104,015,868 (GRCm38)	nonsense	probably null
R4285:Magi3	UTSW	3	104,015,868 (GRCm38)	nonsense	probably null
R4397:Magi3	UTSW	3	104,219,714 (GRCm38)	missense	probably damaging	1.00
R4512:Magi3	UTSW	3	104,089,555 (GRCm38)	missense	probably damaging	0.99
R4676:Magi3	UTSW	3	104,015,825 (GRCm38)	missense	probably benign
R4758:Magi3	UTSW	3	104,015,321 (GRCm38)	missense	probably benign	0.01
R4940:Magi3	UTSW	3	104,051,392 (GRCm38)	missense	probably damaging	1.00
R5039:Magi3	UTSW	3	104,105,791 (GRCm38)	missense	probably damaging	1.00
R5160:Magi3	UTSW	3	104,027,908 (GRCm38)	missense	possibly damaging	0.46
R5422:Magi3	UTSW	3	104,051,368 (GRCm38)	missense	probably damaging	1.00
R5509:Magi3	UTSW	3	104,015,502 (GRCm38)	missense	probably benign	0.00
R5839:Magi3	UTSW	3	104,219,731 (GRCm38)	missense	probably damaging	1.00
R5924:Magi3	UTSW	3	104,054,538 (GRCm38)	splice site	probably null
R6018:Magi3	UTSW	3	104,105,812 (GRCm38)	missense	probably damaging	1.00
R6189:Magi3	UTSW	3	104,050,865 (GRCm38)	missense	probably damaging	1.00
R6235:Magi3	UTSW	3	104,016,068 (GRCm38)	missense	probably damaging	0.99
R6244:Magi3	UTSW	3	104,015,697 (GRCm38)	missense	probably benign	0.16
R6258:Magi3	UTSW	3	104,089,596 (GRCm38)	missense	probably damaging	1.00
R6358:Magi3	UTSW	3	104,050,952 (GRCm38)	missense	probably damaging	1.00
R6534:Magi3	UTSW	3	104,085,220 (GRCm38)	missense	possibly damaging	0.75
R6806:Magi3	UTSW	3	104,046,969 (GRCm38)	missense	possibly damaging	0.94
R6816:Magi3	UTSW	3	104,089,911 (GRCm38)	splice site	probably null
R6897:Magi3	UTSW	3	104,089,557 (GRCm38)	missense	probably damaging	1.00
R7011:Magi3	UTSW	3	104,105,754 (GRCm38)	missense	probably damaging	1.00
R7039:Magi3	UTSW	3	104,051,383 (GRCm38)	missense	probably damaging	1.00
R7196:Magi3	UTSW	3	104,049,168 (GRCm38)	missense	probably benign	0.01
R7237:Magi3	UTSW	3	104,027,911 (GRCm38)	missense	probably damaging	1.00
R7285:Magi3	UTSW	3	104,034,114 (GRCm38)	missense	probably benign	0.00
R7709:Magi3	UTSW	3	104,034,038 (GRCm38)	missense	probably damaging	1.00
R7724:Magi3	UTSW	3	104,015,927 (GRCm38)	missense	probably benign	0.04
R7797:Magi3	UTSW	3	104,051,302 (GRCm38)	missense	probably damaging	1.00
R7950:Magi3	UTSW	3	104,016,689 (GRCm38)	missense	probably damaging	1.00
R8140:Magi3	UTSW	3	104,034,086 (GRCm38)	missense	probably damaging	1.00
R8204:Magi3	UTSW	3	104,051,186 (GRCm38)	missense	probably benign
R8229:Magi3	UTSW	3	104,015,702 (GRCm38)	missense	probably benign	0.00
R8229:Magi3	UTSW	3	104,015,701 (GRCm38)	missense	possibly damaging	0.79
R8260:Magi3	UTSW	3	104,015,309 (GRCm38)	missense	probably benign	0.01
R8348:Magi3	UTSW	3	104,051,215 (GRCm38)	missense	probably damaging	1.00
R8368:Magi3	UTSW	3	104,095,063 (GRCm38)	critical splice donor site	probably null
R8543:Magi3	UTSW	3	104,219,668 (GRCm38)	missense	probably damaging	0.98
R8762:Magi3	UTSW	3	104,050,853 (GRCm38)	missense	probably damaging	1.00
R8826:Magi3	UTSW	3	104,085,346 (GRCm38)	missense	probably benign	0.00
R8847:Magi3	UTSW	3	104,015,018 (GRCm38)	missense	probably benign	0.09
R8892:Magi3	UTSW	3	104,050,825 (GRCm38)	missense	probably damaging	1.00
R8939:Magi3	UTSW	3	104,089,432 (GRCm38)	intron	probably benign
R9090:Magi3	UTSW	3	104,015,948 (GRCm38)	missense	possibly damaging	0.68
R9187:Magi3	UTSW	3	104,015,757 (GRCm38)	missense	possibly damaging	0.76
R9271:Magi3	UTSW	3	104,015,948 (GRCm38)	missense	possibly damaging	0.68
R9433:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9439:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104,017,617 (GRCm38)	missense	probably damaging	1.00
R9557:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9697:Magi3	UTSW	3	104,049,142 (GRCm38)	critical splice donor site	probably null
R9796:Magi3	UTSW	3	104,020,975 (GRCm38)	missense	probably benign
X0026:Magi3	UTSW	3	104,020,420 (GRCm38)	missense	probably benign	0.00

Posted On

2016-08-02