Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Magi1'

583645

Institutional Source

Beutler Lab

Gene Symbol

Magi1

Ensembl Gene

ENSMUSG00000045095

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 1

Synonyms

AIP3, Baiap1, BAP1, Gukmi1, WWP3

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_010367.2; NM_001083320.1 NM_001029850.3, NM_001083321.1; MGI: 1203522

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93675455-94283917 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 93708110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 762 (Y762*)

Ref Sequence

ENSEMBL: ENSMUSP00000086730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]

AlphaFold

Q6RHR9

PDB Structure

X-ray crystal structure of MAGI-1 PDZ1 bound to the C-terminal peptide of HPV18 E6 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000055224
AA Change: Y749*

SMART Domains

Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: Y749*

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	348	380	2.88e-9	SMART
low complexity region	390	402	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
PDZ	460	536	3.71e-18	SMART
PDZ	631	703	4.68e-15	SMART
low complexity region	707	714	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
PDZ	800	876	4.64e-19	SMART
low complexity region	920	942	N/A	INTRINSIC
PDB:1UEW\|A	945	977	2e-6	PDB
PDZ	1043	1117	1.26e-20	SMART
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000089317
AA Change: Y762*

SMART Domains

Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: Y762*

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1074	6.1e-25	SMART
PDZ	1140	1214	6.1e-23	SMART
low complexity region	1347	1357	N/A	INTRINSIC
low complexity region	1366	1423	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093769
AA Change: Y534*

SMART Domains

Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: Y534*

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
WW	74	106	9.65e-11	SMART
WW	133	165	2.88e-9	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	3.71e-18	SMART
PDZ	416	488	4.68e-15	SMART
low complexity region	492	499	N/A	INTRINSIC
low complexity region	505	518	N/A	INTRINSIC
PDZ	613	689	4.64e-19	SMART
low complexity region	733	755	N/A	INTRINSIC
PDZ	771	858	2.3e-23	SMART
PDZ	924	998	1.26e-20	SMART
low complexity region	1131	1141	N/A	INTRINSIC
low complexity region	1150	1207	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000203519
AA Change: Y761*

SMART Domains

Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: Y761*

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	360	392	2.88e-9	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	3.71e-18	SMART
PDZ	643	715	4.68e-15	SMART
low complexity region	719	726	N/A	INTRINSIC
low complexity region	732	745	N/A	INTRINSIC
PDZ	812	888	4.64e-19	SMART
low complexity region	932	954	N/A	INTRINSIC
PDB:1UEW\|A	957	989	2e-6	PDB
PDZ	1055	1115	1.13e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000203688
AA Change: Y535*

SMART Domains

Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: Y535*

Domain	Start	End	E-Value	Type
Pfam:MAGI_u1	1	34	2.9e-17	PFAM
WW	74	106	9.65e-11	SMART
WW	133	165	2.88e-9	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	3.71e-18	SMART
PDZ	416	488	4.68e-15	SMART
low complexity region	506	519	N/A	INTRINSIC
PDZ	614	690	4.64e-19	SMART
low complexity region	734	756	N/A	INTRINSIC
PDZ	772	858	1.74e-23	SMART
PDZ	924	998	1.26e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000204347
AA Change: Y762*

SMART Domains

Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: Y762*

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1086	1.1e-25	SMART
PDZ	1152	1226	6.1e-23	SMART
low complexity region	1261	1273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204532

SMART Domains

Protein: ENSMUSP00000144769
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
Pfam:MAGI_u1	1	34	1.8e-14	PFAM
WW	74	106	5.8e-13	SMART
WW	133	165	1.7e-11	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	1.9e-20	SMART
PDZ	416	488	7.3e-17	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(165) : Targeted(2) Gene trapped(163)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Magi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Magi1	APN	6	94283093	missense	possibly damaging	0.86
IGL01457:Magi1	APN	6	93747224	missense	probably damaging	0.99
IGL01642:Magi1	APN	6	93686624	missense	possibly damaging	0.69
IGL01724:Magi1	APN	6	93792400	splice site	probably null
IGL01967:Magi1	APN	6	93708134	missense	probably damaging	1.00
IGL01984:Magi1	APN	6	93708174	missense	probably damaging	1.00
IGL02074:Magi1	APN	6	93745598	missense	probably damaging	1.00
IGL02098:Magi1	APN	6	93678787	missense	probably damaging	1.00
IGL02225:Magi1	APN	6	93694026	missense	probably damaging	1.00
IGL02522:Magi1	APN	6	93678636	missense	possibly damaging	0.89
IGL02659:Magi1	APN	6	93785610	missense	possibly damaging	0.68
IGL02900:Magi1	APN	6	93686873	missense	probably damaging	1.00
P0007:Magi1	UTSW	6	93745988	missense	probably damaging	1.00
R0149:Magi1	UTSW	6	93747245	missense	probably damaging	1.00
R0512:Magi1	UTSW	6	93694064	missense	probably damaging	1.00
R1487:Magi1	UTSW	6	93708079	missense	probably benign	0.00
R1497:Magi1	UTSW	6	93747329	missense	probably damaging	1.00
R1502:Magi1	UTSW	6	93694170	missense	probably damaging	1.00
R1824:Magi1	UTSW	6	93699639	missense	possibly damaging	0.94
R2042:Magi1	UTSW	6	93755045	missense	probably benign
R2132:Magi1	UTSW	6	93697274	missense	probably damaging	0.99
R2331:Magi1	UTSW	6	93685562	missense	probably damaging	1.00
R2418:Magi1	UTSW	6	93745910	missense	probably damaging	1.00
R3076:Magi1	UTSW	6	93757687	missense	possibly damaging	0.63
R3551:Magi1	UTSW	6	93699629	missense	probably damaging	0.98
R4005:Magi1	UTSW	6	93701318	missense	probably damaging	1.00
R4455:Magi1	UTSW	6	93785457	missense	probably damaging	1.00
R4670:Magi1	UTSW	6	93686643	splice site	probably null
R4671:Magi1	UTSW	6	93680787	critical splice donor site	probably null
R4839:Magi1	UTSW	6	93694196	missense	probably damaging	1.00
R5132:Magi1	UTSW	6	93683091	critical splice acceptor site	probably null
R5147:Magi1	UTSW	6	93747267	missense	probably damaging	1.00
R5525:Magi1	UTSW	6	93792373	missense	possibly damaging	0.95
R5724:Magi1	UTSW	6	93680871	missense	probably benign	0.03
R5724:Magi1	UTSW	6	93745701	missense	probably damaging	1.00
R5846:Magi1	UTSW	6	93685603	missense	probably damaging	1.00
R5896:Magi1	UTSW	6	93708199	missense	probably damaging	1.00
R5912:Magi1	UTSW	6	93708145	missense	possibly damaging	0.95
R6112:Magi1	UTSW	6	93745590	missense	probably damaging	1.00
R6115:Magi1	UTSW	6	93708070	missense	possibly damaging	0.64
R6351:Magi1	UTSW	6	93943229	missense	possibly damaging	0.82
R6355:Magi1	UTSW	6	94283196	missense	probably benign	0.06
R6457:Magi1	UTSW	6	93699639	missense	probably damaging	1.00
R6464:Magi1	UTSW	6	93699789	missense	probably damaging	1.00
R6613:Magi1	UTSW	6	93745673	missense	probably damaging	1.00
R6661:Magi1	UTSW	6	93943308	missense	probably benign	0.08
R6755:Magi1	UTSW	6	93708177	missense	probably damaging	1.00
R6909:Magi1	UTSW	6	93697320	missense	probably damaging	1.00
R7180:Magi1	UTSW	6	93815750	missense	probably benign	0.10
R7224:Magi1	UTSW	6	93683089	missense	probably benign	0.34
R7447:Magi1	UTSW	6	93745581	missense	possibly damaging	0.63
R7517:Magi1	UTSW	6	93708208	missense	probably damaging	0.99
R7549:Magi1	UTSW	6	93708114	missense	probably benign	0.19
R7566:Magi1	UTSW	6	93678327	missense	probably benign	0.03
R7805:Magi1	UTSW	6	93682946	missense	probably benign
R8022:Magi1	UTSW	6	93697365	missense	probably damaging	1.00
R8290:Magi1	UTSW	6	94283085	missense	probably damaging	1.00
R8519:Magi1	UTSW	6	93704349	missense	possibly damaging	0.83
R8762:Magi1	UTSW	6	93815808	nonsense	probably null
R8894:Magi1	UTSW	6	93686605	missense	probably benign	0.12
R8974:Magi1	UTSW	6	93697242	missense	probably damaging	1.00
R9225:Magi1	UTSW	6	93785530	missense	possibly damaging	0.64
R9277:Magi1	UTSW	6	93943253	missense	possibly damaging	0.48
R9300:Magi1	UTSW	6	93747228	missense	probably damaging	1.00
R9393:Magi1	UTSW	6	93682909	missense	probably benign	0.27
R9402:Magi1	UTSW	6	94283297	missense	probably benign	0.00
R9432:Magi1	UTSW	6	93683077	missense	probably damaging	1.00
R9567:Magi1	UTSW	6	93678450	missense	probably damaging	1.00
R9567:Magi1	UTSW	6	93682950	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTATCTGACTACTTGACACCTAGGC -3'
(R):5'- GTGCGTGCAAAGTCAGGATG -3'

Sequencing Primer
(F):5'- GACACCTAGGCCTTTTCGATTAAGAG -3'
(R):5'- TCAGGATGGGGAGAGATGCC -3'

Posted On

2019-10-17