Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Magi2'

480876

Institutional Source

Beutler Lab

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19227036-20704792 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to A at 19227291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000085872 (fasta)

Gene Model

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

AlphaFold

Q9WVQ1

Predicted Effect

probably null
Transcript: ENSMUST00000088516
AA Change: M1I

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: M1I

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 null
Transcript: ENSMUST00000197354
AA Change: M1I

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

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: M1I

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 null
Transcript: ENSMUST00000197443
AA Change: M1I

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

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: M1I

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

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
Dtl	A	T	1: 191,568,572		probably null	Het
F2rl1	T	A	13: 95,514,270	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
March7	C	A	2: 60,245,220	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	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
IGL02657:Magi2	APN	5	19227583	missense	probably damaging	0.99
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCATTCAAGGGACAGCACAAC -3'
(R):5'- CGCTTTCATAGGCCACCTTG -3'

Sequencing Primer
(F):5'- CTACCTCTGCCCAGCCG -3'
(R):5'- ACCTTGCCCGGCTTCAC -3'

Posted On

2017-06-26