Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Magi2'

302378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magi2

Ensembl Gene

ENSMUSG00000040003

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

Synonyms

Magi-2, S-SCAM, Acvrinp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

19227036-20704792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19227583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 99 (K99E)

Ref Sequence

ENSEMBL: ENSMUSP00000142764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000197354] [ENSMUST00000197443]

AlphaFold

Q9WVQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088516
AA Change: K99E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: K99E

Domain	Start	End	E-Value	Type
PDZ	26	101	5.26e-9	SMART
GuKc	107	290	2.76e-45	SMART
WW	302	334	7.43e-12	SMART
WW	348	380	2.4e-6	SMART
PDZ	433	509	3.51e-19	SMART
PDZ	612	682	2.3e-14	SMART
PDZ	785	861	4.04e-19	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	5.05e-20	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	3.88e-21	SMART
low complexity region	1257	1270	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180594

Predicted Effect

probably damaging
Transcript: ENSMUST00000197354
AA Change: K99E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: K99E

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	785	861	2e-21	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	2.4e-22	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	1.9e-23	SMART
low complexity region	1255	1269	N/A	INTRINSIC
low complexity region	1304	1319	N/A	INTRINSIC
low complexity region	1344	1363	N/A	INTRINSIC
low complexity region	1368	1384	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197443
AA Change: K99E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: K99E

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	771	847	2e-21	SMART
low complexity region	879	893	N/A	INTRINSIC
PDZ	914	995	2.4e-22	SMART
low complexity region	1038	1049	N/A	INTRINSIC
PDZ	1133	1207	1.9e-23	SMART
low complexity region	1241	1255	N/A	INTRINSIC
low complexity region	1290	1305	N/A	INTRINSIC
low complexity region	1330	1349	N/A	INTRINSIC
low complexity region	1354	1370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200518

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Magi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Magi2	APN	5	20391301	missense	probably benign	0.05
IGL02120:Magi2	APN	5	20228453	critical splice donor site	probably null
IGL02341:Magi2	APN	5	20466203	missense	probably damaging	1.00
IGL02411:Magi2	APN	5	19678709	missense	probably damaging	1.00
IGL02976:Magi2	APN	5	20534475	missense	probably damaging	1.00
IGL03105:Magi2	APN	5	20543618	missense	probably damaging	0.97
IGL03246:Magi2	APN	5	20358950	missense	probably damaging	1.00
IGL03329:Magi2	APN	5	20466128	missense	possibly damaging	0.95
LCD18:Magi2	UTSW	5	19954511	intron	probably benign
PIT4519001:Magi2	UTSW	5	20661346	missense	probably damaging	1.00
R0009:Magi2	UTSW	5	20611055	missense	probably benign	0.15
R0009:Magi2	UTSW	5	20611055	missense	probably benign	0.15
R0352:Magi2	UTSW	5	20065666	missense	probably damaging	1.00
R0362:Magi2	UTSW	5	19227575	missense	probably damaging	1.00
R0496:Magi2	UTSW	5	20661359	splice site	probably benign
R1103:Magi2	UTSW	5	20611103	missense	probably damaging	1.00
R1435:Magi2	UTSW	5	20358945	missense	probably damaging	1.00
R1583:Magi2	UTSW	5	19227332	missense	probably benign	0.30
R1616:Magi2	UTSW	5	20609326	missense	probably damaging	1.00
R1643:Magi2	UTSW	5	20705506	unclassified	probably benign
R1707:Magi2	UTSW	5	20215493	missense	probably damaging	1.00
R1833:Magi2	UTSW	5	19227457	missense	probably damaging	1.00
R1837:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1838:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1839:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1847:Magi2	UTSW	5	20602460	missense	probably damaging	0.99
R2223:Magi2	UTSW	5	20465672	missense	probably damaging	1.00
R2496:Magi2	UTSW	5	19678752	missense	probably benign	0.42
R2504:Magi2	UTSW	5	20358936	missense	probably damaging	1.00
R2848:Magi2	UTSW	5	20602461	frame shift	probably null
R2879:Magi2	UTSW	5	20602461	frame shift	probably null
R2935:Magi2	UTSW	5	20602461	frame shift	probably null
R2936:Magi2	UTSW	5	20602461	frame shift	probably null
R3694:Magi2	UTSW	5	20602461	frame shift	probably null
R3783:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3786:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3787:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3837:Magi2	UTSW	5	20215468	missense	probably benign	0.28
R4151:Magi2	UTSW	5	19227292	missense	probably damaging	0.97
R4721:Magi2	UTSW	5	20534469	missense	probably damaging	1.00
R5005:Magi2	UTSW	5	20534446	missense	probably damaging	0.98
R5012:Magi2	UTSW	5	20465620	missense	probably damaging	0.99
R5193:Magi2	UTSW	5	20358972	critical splice donor site	probably null
R5298:Magi2	UTSW	5	20569162	missense	probably damaging	1.00
R5372:Magi2	UTSW	5	20702110	missense	possibly damaging	0.82
R5580:Magi2	UTSW	5	20215424	missense	probably benign	0.03
R5806:Magi2	UTSW	5	20651204	missense	probably benign	0.01
R5924:Magi2	UTSW	5	20611069	missense	probably benign	0.00
R5992:Magi2	UTSW	5	19227291	start codon destroyed	probably null	0.42
R6014:Magi2	UTSW	5	20611093	missense	probably damaging	1.00
R6073:Magi2	UTSW	5	20569288	missense	probably damaging	1.00
R6500:Magi2	UTSW	5	20602347	missense	possibly damaging	0.94
R6664:Magi2	UTSW	5	20702397	missense	probably benign	0.00
R7229:Magi2	UTSW	5	20465588	missense	probably damaging	1.00
R7344:Magi2	UTSW	5	20550240	missense	probably benign	0.19
R7448:Magi2	UTSW	5	20358956	missense	probably damaging	1.00
R7605:Magi2	UTSW	5	20228385	missense	probably damaging	1.00
R7712:Magi2	UTSW	5	20550282	missense	possibly damaging	0.78
R7808:Magi2	UTSW	5	20465840	missense	probably benign	0.03
R7955:Magi2	UTSW	5	20389072	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20391367	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20391394	missense	probably benign	0.03
R8253:Magi2	UTSW	5	20609307	missense	probably benign	0.44
R8481:Magi2	UTSW	5	20389154	missense	possibly damaging	0.91
R8553:Magi2	UTSW	5	20651200	missense	probably benign	0.00
R8751:Magi2	UTSW	5	20534464	missense	probably benign
R8766:Magi2	UTSW	5	20195125	missense	probably benign	0.33
R8851:Magi2	UTSW	5	20065620	missense	probably damaging	1.00
R8876:Magi2	UTSW	5	20651192	nonsense	probably null
R9120:Magi2	UTSW	5	20528307	missense	possibly damaging	0.81
R9335:Magi2	UTSW	5	20661265	missense
R9367:Magi2	UTSW	5	20561310	missense	probably damaging	0.97
R9454:Magi2	UTSW	5	20466178	missense	probably damaging	0.97
R9474:Magi2	UTSW	5	20195021	missense	probably benign	0.00
R9577:Magi2	UTSW	5	20609284	missense	probably damaging	1.00
R9673:Magi2	UTSW	5	20465584	missense	possibly damaging	0.86
R9696:Magi2	UTSW	5	20465866	missense	probably benign	0.35
X0065:Magi2	UTSW	5	20569178	missense	possibly damaging	0.94
Z1176:Magi2	UTSW	5	20702109	missense	probably benign	0.32
Z1177:Magi2	UTSW	5	20702412	missense	probably benign

Posted On

2015-04-16