Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Magi2'

632155

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19227036-20704792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20391394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 283 (D283E)

Ref Sequence

ENSEMBL: ENSMUSP00000099094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]

AlphaFold

Q9WVQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000088516
AA Change: D446E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: D446E

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

probably benign
Transcript: ENSMUST00000101558
AA Change: D283E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: D283E

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	608	684	4.04e-19	SMART
low complexity region	716	730	N/A	INTRINSIC
PDZ	751	832	5.05e-20	SMART
low complexity region	875	886	N/A	INTRINSIC
PDZ	970	1044	3.88e-21	SMART
low complexity region	1080	1093	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115267
AA Change: D283E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: D283E

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	622	698	4.04e-19	SMART
low complexity region	730	744	N/A	INTRINSIC
PDZ	765	846	5.05e-20	SMART
low complexity region	889	900	N/A	INTRINSIC
PDZ	984	1058	3.88e-21	SMART
low complexity region	1094	1107	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197354
AA Change: D446E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: D446E

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

possibly damaging
Transcript: ENSMUST00000197443
AA Change: D446E

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: D446E

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

possibly damaging
Transcript: ENSMUST00000197553
AA Change: D56E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208219
AA Change: D56E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCTTAAAGTGACCACCTGC -3'
(R):5'- GACTTTGGAATTAAAACCACGAAGG -3'

Sequencing Primer
(F):5'- ATCTACCCAGGGATAGTTGCTCG -3'
(R):5'- CCACGAAGGAATCTGTGGAAGTC -3'

Posted On

2020-06-30