Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02411:Magi2'

292294

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

Acvrinp1, Magi-2, S-SCAM

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

19432034-20909790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19883707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 120 (S120P)

Ref Sequence

ENSEMBL: ENSMUSP00000142764 (fasta)

Gene Model

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

AlphaFold

Q9WVQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000088516
AA Change: S120P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: S120P

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 damaging
Transcript: ENSMUST00000197354
AA Change: S120P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: S120P

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: S120P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: S120P

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: 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,459 (GRCm39)	E65G	probably benign	Het
Abcc8	G	A	7: 45,756,431 (GRCm39)	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,259,407 (GRCm39)		probably null	Het
AI661453	T	G	17: 47,778,263 (GRCm39)		probably benign	Het
Arhgef10	A	T	8: 15,004,819 (GRCm39)	Y445F	probably benign	Het
Atrx	G	T	X: 104,874,587 (GRCm39)	S1924R	possibly damaging	Het
Clca3a1	T	C	3: 144,733,763 (GRCm39)	T58A	possibly damaging	Het
Clec1b	A	G	6: 129,378,804 (GRCm39)	Y97C	probably damaging	Het
Cobll1	A	G	2: 64,928,084 (GRCm39)	S1080P	probably damaging	Het
Crb1	C	A	1: 139,176,213 (GRCm39)	C529F	probably damaging	Het
Crim1	C	T	17: 78,642,763 (GRCm39)	R494*	probably null	Het
Cyp3a25	A	T	5: 145,938,257 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,041,424 (GRCm39)		probably null	Het
Gjb1	T	C	X: 100,428,611 (GRCm39)	C280R	probably damaging	Het
Glp1r	T	A	17: 31,143,485 (GRCm39)	C174S	probably damaging	Het
Gm5414	A	T	15: 101,536,269 (GRCm39)	Y119N	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gm9796	G	T	11: 95,588,756 (GRCm39)		noncoding transcript	Het
Gm9956	T	C	10: 56,621,388 (GRCm39)	F17L	unknown	Het
Il1rap	A	T	16: 26,529,366 (GRCm39)	D396V	probably damaging	Het
Impa1	T	C	3: 10,388,018 (GRCm39)	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,810 (GRCm39)	A685V	probably damaging	Het
Jade3	T	C	X: 20,379,063 (GRCm39)	V512A	probably benign	Het
Kif3a	C	A	11: 53,461,525 (GRCm39)	P57T	probably damaging	Het
Kndc1	G	T	7: 139,501,829 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Maged2	G	T	X: 149,592,755 (GRCm39)	D343E	probably benign	Het
Nxph3	A	T	11: 95,401,656 (GRCm39)	*253R	probably null	Het
Oog2	A	T	4: 143,921,618 (GRCm39)	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,880,764 (GRCm39)	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,582,823 (GRCm39)	L643R	possibly damaging	Het
Plch1	G	T	3: 63,605,177 (GRCm39)		probably null	Het
Poln	G	T	5: 34,270,666 (GRCm39)	S455*	probably null	Het
Ppp2r1a	T	C	17: 21,171,596 (GRCm39)		probably benign	Het
Rsu1	T	G	2: 13,082,308 (GRCm39)		probably benign	Het
Serpina10	A	T	12: 103,583,202 (GRCm39)	M360K	possibly damaging	Het
Sox30	A	T	11: 45,871,951 (GRCm39)	K269*	probably null	Het
Thbs1	T	C	2: 117,945,451 (GRCm39)	V310A	probably benign	Het
Tie1	C	A	4: 118,343,760 (GRCm39)	E61*	probably null	Het
Tm2d1	G	T	4: 98,268,911 (GRCm39)	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,398,826 (GRCm39)	P201Q	probably damaging	Het
Trim13	A	G	14: 61,842,598 (GRCm39)	E205G	probably damaging	Het

Other mutations in Magi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Magi2	APN	5	20,596,299 (GRCm39)	missense	probably benign	0.05
IGL02120:Magi2	APN	5	20,433,451 (GRCm39)	critical splice donor site	probably null
IGL02341:Magi2	APN	5	20,671,201 (GRCm39)	missense	probably damaging	1.00
IGL02657:Magi2	APN	5	19,432,581 (GRCm39)	missense	probably damaging	0.99
IGL02976:Magi2	APN	5	20,739,473 (GRCm39)	missense	probably damaging	1.00
IGL03105:Magi2	APN	5	20,748,616 (GRCm39)	missense	probably damaging	0.97
IGL03246:Magi2	APN	5	20,563,948 (GRCm39)	missense	probably damaging	1.00
IGL03329:Magi2	APN	5	20,671,126 (GRCm39)	missense	possibly damaging	0.95
LCD18:Magi2	UTSW	5	20,159,509 (GRCm39)	intron	probably benign
PIT4519001:Magi2	UTSW	5	20,866,344 (GRCm39)	missense	probably damaging	1.00
R0009:Magi2	UTSW	5	20,816,053 (GRCm39)	missense	probably benign	0.15
R0009:Magi2	UTSW	5	20,816,053 (GRCm39)	missense	probably benign	0.15
R0352:Magi2	UTSW	5	20,270,664 (GRCm39)	missense	probably damaging	1.00
R0362:Magi2	UTSW	5	19,432,573 (GRCm39)	missense	probably damaging	1.00
R0496:Magi2	UTSW	5	20,866,357 (GRCm39)	splice site	probably benign
R1103:Magi2	UTSW	5	20,816,101 (GRCm39)	missense	probably damaging	1.00
R1435:Magi2	UTSW	5	20,563,943 (GRCm39)	missense	probably damaging	1.00
R1583:Magi2	UTSW	5	19,432,330 (GRCm39)	missense	probably benign	0.30
R1616:Magi2	UTSW	5	20,814,324 (GRCm39)	missense	probably damaging	1.00
R1643:Magi2	UTSW	5	20,910,504 (GRCm39)	unclassified	probably benign
R1707:Magi2	UTSW	5	20,420,491 (GRCm39)	missense	probably damaging	1.00
R1833:Magi2	UTSW	5	19,432,455 (GRCm39)	missense	probably damaging	1.00
R1837:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1838:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1839:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1847:Magi2	UTSW	5	20,807,458 (GRCm39)	missense	probably damaging	0.99
R2223:Magi2	UTSW	5	20,670,670 (GRCm39)	missense	probably damaging	1.00
R2496:Magi2	UTSW	5	19,883,750 (GRCm39)	missense	probably benign	0.42
R2504:Magi2	UTSW	5	20,563,934 (GRCm39)	missense	probably damaging	1.00
R2848:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2879:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2935:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2936:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R3694:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R3783:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3786:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3787:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3837:Magi2	UTSW	5	20,420,466 (GRCm39)	missense	probably benign	0.28
R4151:Magi2	UTSW	5	19,432,290 (GRCm39)	missense	probably damaging	0.97
R4721:Magi2	UTSW	5	20,739,467 (GRCm39)	missense	probably damaging	1.00
R5005:Magi2	UTSW	5	20,739,444 (GRCm39)	missense	probably damaging	0.98
R5012:Magi2	UTSW	5	20,670,618 (GRCm39)	missense	probably damaging	0.99
R5193:Magi2	UTSW	5	20,563,970 (GRCm39)	critical splice donor site	probably null
R5298:Magi2	UTSW	5	20,774,160 (GRCm39)	missense	probably damaging	1.00
R5372:Magi2	UTSW	5	20,907,108 (GRCm39)	missense	possibly damaging	0.82
R5580:Magi2	UTSW	5	20,420,422 (GRCm39)	missense	probably benign	0.03
R5806:Magi2	UTSW	5	20,856,202 (GRCm39)	missense	probably benign	0.01
R5924:Magi2	UTSW	5	20,816,067 (GRCm39)	missense	probably benign	0.00
R5992:Magi2	UTSW	5	19,432,289 (GRCm39)	start codon destroyed	probably null	0.42
R6014:Magi2	UTSW	5	20,816,091 (GRCm39)	missense	probably damaging	1.00
R6073:Magi2	UTSW	5	20,774,286 (GRCm39)	missense	probably damaging	1.00
R6500:Magi2	UTSW	5	20,807,345 (GRCm39)	missense	possibly damaging	0.94
R6664:Magi2	UTSW	5	20,907,395 (GRCm39)	missense	probably benign	0.00
R7229:Magi2	UTSW	5	20,670,586 (GRCm39)	missense	probably damaging	1.00
R7344:Magi2	UTSW	5	20,755,238 (GRCm39)	missense	probably benign	0.19
R7448:Magi2	UTSW	5	20,563,954 (GRCm39)	missense	probably damaging	1.00
R7605:Magi2	UTSW	5	20,433,383 (GRCm39)	missense	probably damaging	1.00
R7712:Magi2	UTSW	5	20,755,280 (GRCm39)	missense	possibly damaging	0.78
R7808:Magi2	UTSW	5	20,670,838 (GRCm39)	missense	probably benign	0.03
R7955:Magi2	UTSW	5	20,594,070 (GRCm39)	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20,596,392 (GRCm39)	missense	probably benign	0.03
R8134:Magi2	UTSW	5	20,596,365 (GRCm39)	missense	probably damaging	1.00
R8253:Magi2	UTSW	5	20,814,305 (GRCm39)	missense	probably benign	0.44
R8481:Magi2	UTSW	5	20,594,152 (GRCm39)	missense	possibly damaging	0.91
R8553:Magi2	UTSW	5	20,856,198 (GRCm39)	missense	probably benign	0.00
R8751:Magi2	UTSW	5	20,739,462 (GRCm39)	missense	probably benign
R8766:Magi2	UTSW	5	20,400,123 (GRCm39)	missense	probably benign	0.33
R8851:Magi2	UTSW	5	20,270,618 (GRCm39)	missense	probably damaging	1.00
R8876:Magi2	UTSW	5	20,856,190 (GRCm39)	nonsense	probably null
R9120:Magi2	UTSW	5	20,733,305 (GRCm39)	missense	possibly damaging	0.81
R9335:Magi2	UTSW	5	20,866,263 (GRCm39)	missense
R9367:Magi2	UTSW	5	20,766,308 (GRCm39)	missense	probably damaging	0.97
R9454:Magi2	UTSW	5	20,671,176 (GRCm39)	missense	probably damaging	0.97
R9474:Magi2	UTSW	5	20,400,019 (GRCm39)	missense	probably benign	0.00
R9577:Magi2	UTSW	5	20,814,282 (GRCm39)	missense	probably damaging	1.00
R9673:Magi2	UTSW	5	20,670,582 (GRCm39)	missense	possibly damaging	0.86
R9696:Magi2	UTSW	5	20,670,864 (GRCm39)	missense	probably benign	0.35
X0065:Magi2	UTSW	5	20,774,176 (GRCm39)	missense	possibly damaging	0.94
Z1176:Magi2	UTSW	5	20,907,107 (GRCm39)	missense	probably benign	0.32
Z1177:Magi2	UTSW	5	20,907,410 (GRCm39)	missense	probably benign

Posted On

2015-04-16