Mutagenetix > Incidental Mutations

Incidental Mutation 'R2042:Magi1'

225055

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

040049-MU

Accession Numbers

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

Is this an essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93675455-94283917 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93755045 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 209 (N209K)

Ref Sequence

ENSEMBL: ENSMUSP00000144769 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055224
AA Change: N424K

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

SMART Domains

Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: N424K

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 benign
Transcript: ENSMUST00000089317
AA Change: N436K

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

SMART Domains

Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: N436K

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 benign
Transcript: ENSMUST00000093769
AA Change: N209K

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

SMART Domains

Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: N209K

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 benign
Transcript: ENSMUST00000203519
AA Change: N436K

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

SMART Domains

Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: N436K

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 benign
Transcript: ENSMUST00000203688
AA Change: N209K

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

SMART Domains

Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: N209K

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 benign
Transcript: ENSMUST00000204347
AA Change: N436K

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

SMART Domains

Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: N436K

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
AA Change: N209K

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

SMART Domains

Protein: ENSMUSP00000144769
Gene: ENSMUSG00000045095
AA Change: N209K

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

0.0634

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,416,728		probably benign	Het
9130019O22Rik	A	T	7: 127,385,469	C154S	possibly damaging	Het
Abca16	G	A	7: 120,544,718	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,785,819	Y176F	probably damaging	Het
Ano6	T	C	15: 95,956,023		probably null	Het
Atr	T	C	9: 95,870,022	L564S	probably benign	Het
Birc6	C	G	17: 74,609,659	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,704,308	A148T	probably damaging	Het
Cd53	T	A	3: 106,767,424		probably null	Het
Celsr2	A	G	3: 108,402,495	F1596S	probably damaging	Het
Cep120	A	T	18: 53,735,742	F122I	possibly damaging	Het
Ckm	A	T	7: 19,414,157	H7L	possibly damaging	Het
Crybg2	T	C	4: 134,087,533	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,112,538	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,666,108	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,215,849	S570T	probably damaging	Het
Dmbt1	A	G	7: 131,106,359	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,635,658	V98A	probably benign	Het
Dtx1	T	G	5: 120,694,476	N299T	probably benign	Het
Efr3b	T	A	12: 3,984,627	D65V	probably damaging	Het
Eml4	T	C	17: 83,448,178	C323R	probably damaging	Het
Eps15	C	T	4: 109,304,767	T31I	probably damaging	Het
Fam160a2	G	T	7: 105,384,121	Y629*	probably null	Het
Fam205c	C	T	4: 42,874,030	C46Y	possibly damaging	Het
Fam46b	T	C	4: 133,486,613	V265A	possibly damaging	Het
Fam91a1	A	G	15: 58,426,594	I184V	probably benign	Het
Fbxl8	A	T	8: 105,268,224	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,732,704	T141P	probably damaging	Het
Glra3	G	A	8: 56,062,459	D190N	probably benign	Het
Hspg2	T	C	4: 137,568,366	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Irs2	A	G	8: 11,007,580	I284T	probably damaging	Het
Klhl22	T	C	16: 17,792,420		probably benign	Het
Lmcd1	T	A	6: 112,315,890	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,363,442	K173R	probably benign	Het
Mak	A	C	13: 41,049,436	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,277,983	R87L	probably damaging	Het
Map4k1	T	C	7: 28,984,130	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051		probably null	Het
Mks1	C	T	11: 87,856,668		probably benign	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
N4bp2	C	T	5: 65,826,621	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,226,640	Q132H	probably benign	Het
Nemp1	T	C	10: 127,696,334	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,436,194	H92R	probably benign	Het
Olfr1180	G	A	2: 88,412,202	A152V	possibly damaging	Het
Olfr527	T	C	7: 140,335,937	L25P	probably damaging	Het
P4ha3	T	C	7: 100,300,690		probably null	Het
Pcnx	C	A	12: 81,918,293	H411Q	probably damaging	Het
Podxl	A	G	6: 31,523,116	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,856,268	S530P	possibly damaging	Het
Scin	A	G	12: 40,077,510	I427T	possibly damaging	Het
Sgo2b	T	C	8: 63,928,527	T424A	probably benign	Het
Slc22a2	T	C	17: 12,599,125	I196T	probably benign	Het
Slc47a2	C	A	11: 61,338,082	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386	V99M	probably damaging	Het
Sprr2k	T	C	3: 92,433,456		probably benign	Het
Spta1	G	A	1: 174,211,647	M1185I	probably benign	Het
Uaca	T	C	9: 60,869,891	V518A	probably damaging	Het
Ubr3	C	T	2: 69,977,774	Q1200*	probably null	Het
Ufm1	A	G	3: 53,859,281		probably benign	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp142	G	A	1: 74,570,619	T1236I	probably benign	Het
Zfp236	A	G	18: 82,633,109	Y845H	probably damaging	Het
Zfp787	T	C	7: 6,132,764	K163E	possibly damaging	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
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
R7537:Magi1	UTSW	6	93708110	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACTTTGGTGTATCATGCTAAGTCTGA -3'
(R):5'- CTTACCACAAAGGGAGGGAG -3'

Sequencing Primer
(F):5'- GACTGACAACCTGAATTTGGTCC -3'
(R):5'- GCATCTTCCAGACAGATATGGTGC -3'

Posted On

2014-08-25