Mutagenetix > Incidental Mutations

Incidental Mutation 'R7224:Magi1'

562020

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

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93675455-94283917 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93683089 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1175 (I1175T)

Ref Sequence

ENSEMBL: ENSMUSP00000086730 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000055224
AA Change: I1078T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: I1078T

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: I1175T

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: I1175T

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: I959T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: I959T

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: I1090T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: I1090T

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: I959T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: I959T

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: I1187T

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: I1187T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		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	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGACAAGCTCATGGAGTC -3'
(R):5'- AGCTCACATTCTCCTGGTAGC -3'

Sequencing Primer
(F):5'- CATGGAGTCATGCCAGGG -3'
(R):5'- ACGTACTACTTGTATAGCATGCC -3'

Posted On

2019-06-26