Mutagenetix > Incidental Mutation

Incidental Mutation 'R8260:Magi3'

639980

Institutional Source

Beutler Lab

Gene Symbol

Magi3

Ensembl Gene

ENSMUSG00000052539

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 3

Synonyms

4732496O19Rik, 6530407C02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R8260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104015309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1364 (L1364P)

Ref Sequence

ENSEMBL: ENSMUSP00000112934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064371] [ENSMUST00000121198] [ENSMUST00000122303] [ENSMUST00000145727]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064371

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121198
AA Change: L1364P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: L1364P

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122303

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PDZ	27	108	1.94e-1	SMART
GuKc	114	281	8.56e-10	SMART
WW	297	329	9.14e-12	SMART
WW	343	375	2.47e-8	SMART
PDZ	421	497	1.48e-17	SMART
PDZ	589	659	3.07e-10	SMART
low complexity region	664	674	N/A	INTRINSIC
low complexity region	683	698	N/A	INTRINSIC
PDZ	737	813	1.34e-15	SMART
PDZ	861	939	7.65e-20	SMART
PDZ	1030	1104	1.55e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145727

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388

Domain	Start	End	E-Value	Type
Pfam:Phtf-FEM1B_bdg	3	158	1.6e-88	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	347	370	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	512	534	N/A	INTRINSIC
transmembrane domain	610	632	N/A	INTRINSIC
transmembrane domain	647	664	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	G	C	14: 63,986,184	L48V	probably benign	Het
Acbd3	T	C	1: 180,738,530	Y263H	probably damaging	Het
Acot4	C	A	12: 84,042,035	P219Q	possibly damaging	Het
Adcy6	A	G	15: 98,601,038	F294S	probably damaging	Het
Aplf	T	C	6: 87,630,005	R476G	probably benign	Het
Arid1b	A	G	17: 5,332,513	T1292A	probably benign	Het
Arntl	A	T	7: 113,285,051	I92F	probably damaging	Het
Atp2c1	T	A	9: 105,418,579	I649F	probably damaging	Het
Bbs10	C	T	10: 111,300,243	Q406*	probably null	Het
Bcas3	T	A	11: 85,509,546	M447K	possibly damaging	Het
Cars	T	C	7: 143,585,709	D214G	probably benign	Het
Ccdc88a	A	T	11: 29,493,934	I1410F	probably benign	Het
Cd55b	A	T	1: 130,388,678	L378H	probably damaging	Het
Cdh1	G	A	8: 106,604,347	E37K	probably benign	Het
Cep72	T	C	13: 74,058,346	Y119C	probably damaging	Het
Ctnnd2	A	G	15: 30,634,733	T176A	possibly damaging	Het
D630045J12Rik	T	A	6: 38,142,911		probably null	Het
Ddi1	A	T	9: 6,265,524	C282S	probably damaging	Het
Ddit4	T	C	10: 59,951,455	T20A	probably benign	Het
Dpp10	T	A	1: 123,686,295	T102S	probably benign	Het
Ep400	T	A	5: 110,755,612	K374*	probably null	Het
Epha3	A	G	16: 63,583,554	L728P	probably damaging	Het
Fbxw21	C	A	9: 109,146,546		probably null	Het
Frmpd1	A	G	4: 45,244,638	E109G	probably damaging	Het
Ggt1	C	T	10: 75,581,411	P332L	probably damaging	Het
Gm10081	A	T	7: 107,106,855	M2K	probably benign	Het
Gm4737	T	C	16: 46,154,423	E197G	probably damaging	Het
Gm4779	G	C	X: 101,793,784	T171S	possibly damaging	Het
Gm5431	A	T	11: 48,894,729	I273K	probably benign	Het
Gm7697	A	T	8: 69,519,748	D116E	possibly damaging	Het
Gon4l	A	G	3: 88,892,630	N861D	probably damaging	Het
Grm5	T	C	7: 88,075,132		probably null	Het
Helt	T	C	8: 46,292,708	N84S	possibly damaging	Het
Hnrnpa0	G	T	13: 58,127,414	Y300*	probably null	Het
Ints1	T	C	5: 139,765,213	T810A		Het
Irf2bp1	C	T	7: 19,006,154	A573V	possibly damaging	Het
Itgbl1	C	A	14: 123,827,834	D133E	probably benign	Het
Kctd15	A	G	7: 34,644,842	F128S	possibly damaging	Het
Klra17	T	A	6: 129,831,458	N271Y	probably damaging	Het
Kmt2c	T	A	5: 25,405,516	E197D	possibly damaging	Het
Larp1	C	A	11: 58,058,689	T1048K	probably benign	Het
Macf1	A	G	4: 123,472,070	V2966A	probably benign	Het
Malrd1	T	C	2: 15,614,206	S294P		Het
Med13l	C	T	5: 118,748,729	T1565I	possibly damaging	Het
Mov10l1	A	G	15: 89,012,110	D719G	probably benign	Het
Muc4	CAC	CACTAC	16: 32,754,076		probably benign	Het
Myh14	T	C	7: 44,615,376	E1654G	probably damaging	Het
Myo1c	C	T	11: 75,656,116		probably benign	Het
Myo9a	A	G	9: 59,910,678	T2343A	probably benign	Het
Olfr1012	A	T	2: 85,759,476	L300Q	probably damaging	Het
Olfr1055	T	A	2: 86,346,932	Y278F	possibly damaging	Het
Olfr340	A	G	2: 36,452,885	Q100R	probably damaging	Het
Olfr553	T	A	7: 102,614,225	I255F	possibly damaging	Het
Olfr669	T	A	7: 104,938,672	Y49N	probably damaging	Het
Olfr700	A	T	7: 106,806,027	V145E	possibly damaging	Het
Olfr734	T	C	14: 50,320,158	K226E	probably benign	Het
Olfr791	T	A	10: 129,527,088	I287N	possibly damaging	Het
Osmr	A	T	15: 6,815,416	D957E	probably benign	Het
Pappa	T	A	4: 65,316,182	V1408E	probably damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pdcd6ip	A	T	9: 113,672,797	D464E	probably benign	Het
Pde1c	T	C	6: 56,137,419	Y503C	probably benign	Het
Prob1	T	A	18: 35,654,157	E348V	possibly damaging	Het
Rnls	A	G	19: 33,202,648	L134S	probably damaging	Het
Scrn3	T	C	2: 73,335,858	Y412H	probably damaging	Het
Serpina3g	T	C	12: 104,239,103	S34P	probably benign	Het
Sertad3	G	A	7: 27,476,359	A73T	probably benign	Het
Sez6l	C	T	5: 112,461,256	A576T	probably benign	Het
Sh3tc2	G	A	18: 62,013,066	R1172H	probably damaging	Het
Sirt3	A	G	7: 140,876,406	V110A		Het
Smpd3	A	T	8: 106,257,415	D557E	probably benign	Het
Soga3	T	A	10: 29,148,274	H395Q	possibly damaging	Het
Sptssb	A	T	3: 69,820,972	M44K	probably damaging	Het
Tars2	A	G	3: 95,754,820	W7R	probably damaging	Het
Tbc1d9b	A	G	11: 50,164,186	D964G	probably benign	Het
Tiam2	A	T	17: 3,518,319	D1580V	possibly damaging	Het
Tmeff2	T	A	1: 50,938,319	V130D	probably damaging	Het
Top2a	T	A	11: 99,000,769	E1176V	probably null	Het
Trappc9	C	A	15: 72,941,909	E680*	probably null	Het
Trip10	A	G	17: 57,257,314	N355S	probably benign	Het
Ttn	T	C	2: 76,765,993	E20192G	probably damaging	Het
Vmn2r96	A	G	17: 18,583,981	M306V	probably benign	Het
Wdr90	A	T	17: 25,845,167	H1860Q	probably damaging	Het
Wrnip1	A	G	13: 32,805,356	I276V	possibly damaging	Het
Zfp608	T	C	18: 54,897,749	K1040E	possibly damaging	Het
Zfp808	T	A	13: 62,172,738	C594S	probably benign	Het

Other mutations in Magi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Magi3	APN	3	104014978	missense	probably damaging	1.00
IGL00933:Magi3	APN	3	104015847	missense	probably benign
IGL01151:Magi3	APN	3	104051374	missense	probably damaging	1.00
IGL01674:Magi3	APN	3	104105721	splice site	probably benign
IGL01790:Magi3	APN	3	104085244	missense	probably damaging	1.00
IGL01903:Magi3	APN	3	104051210	missense	possibly damaging	0.87
IGL01939:Magi3	APN	3	104054462	missense	probably damaging	0.99
IGL02142:Magi3	APN	3	104015903	missense	probably benign	0.32
IGL02183:Magi3	APN	3	104085347	missense	probably benign	0.01
IGL02887:Magi3	APN	3	104095157	missense	probably damaging	1.00
IGL03071:Magi3	APN	3	104015886	missense	possibly damaging	0.51
IGL03085:Magi3	APN	3	104015339	missense	possibly damaging	0.88
IGL03192:Magi3	APN	3	104043246	missense	probably damaging	1.00
IGL03204:Magi3	APN	3	104105835	missense	probably damaging	1.00
IGL03227:Magi3	APN	3	104051119	missense	probably benign
IGL03388:Magi3	APN	3	104015841	missense	probably benign	0.30
PIT4280001:Magi3	UTSW	3	104054352	missense	probably damaging	1.00
PIT4504001:Magi3	UTSW	3	104015526	missense	probably benign	0.05
R0092:Magi3	UTSW	3	104050964	nonsense	probably null
R0514:Magi3	UTSW	3	104015022	missense	probably damaging	1.00
R0569:Magi3	UTSW	3	104016042	missense	probably benign	0.43
R0608:Magi3	UTSW	3	104017557	missense	probably damaging	1.00
R0920:Magi3	UTSW	3	104034191	splice site	probably null
R1173:Magi3	UTSW	3	104061630	critical splice donor site	probably null
R1256:Magi3	UTSW	3	104027810	missense	probably benign	0.08
R1391:Magi3	UTSW	3	104015058	nonsense	probably null
R1559:Magi3	UTSW	3	104046853	splice site	probably benign
R1568:Magi3	UTSW	3	104089527	missense	probably benign	0.02
R1631:Magi3	UTSW	3	104051177	missense	probably benign	0.05
R1747:Magi3	UTSW	3	104034173	missense	possibly damaging	0.82
R1930:Magi3	UTSW	3	104089604	missense	probably damaging	1.00
R1964:Magi3	UTSW	3	104020402	missense	probably damaging	0.99
R2151:Magi3	UTSW	3	104046882	missense	probably damaging	1.00
R2151:Magi3	UTSW	3	104085238	missense	probably damaging	1.00
R2266:Magi3	UTSW	3	104021066	intron	probably benign
R2267:Magi3	UTSW	3	104021066	intron	probably benign
R2268:Magi3	UTSW	3	104021066	intron	probably benign
R2519:Magi3	UTSW	3	104015765	missense	probably benign	0.00
R3104:Magi3	UTSW	3	104051320	missense	probably damaging	0.99
R3105:Magi3	UTSW	3	104051320	missense	probably damaging	0.99
R3619:Magi3	UTSW	3	104054405	missense	probably damaging	1.00
R4158:Magi3	UTSW	3	104050961	missense	probably damaging	1.00
R4160:Magi3	UTSW	3	104050961	missense	probably damaging	1.00
R4284:Magi3	UTSW	3	104015868	nonsense	probably null
R4285:Magi3	UTSW	3	104015868	nonsense	probably null
R4397:Magi3	UTSW	3	104219714	missense	probably damaging	1.00
R4512:Magi3	UTSW	3	104089555	missense	probably damaging	0.99
R4676:Magi3	UTSW	3	104015825	missense	probably benign
R4758:Magi3	UTSW	3	104015321	missense	probably benign	0.01
R4940:Magi3	UTSW	3	104051392	missense	probably damaging	1.00
R5039:Magi3	UTSW	3	104105791	missense	probably damaging	1.00
R5160:Magi3	UTSW	3	104027908	missense	possibly damaging	0.46
R5422:Magi3	UTSW	3	104051368	missense	probably damaging	1.00
R5509:Magi3	UTSW	3	104015502	missense	probably benign	0.00
R5839:Magi3	UTSW	3	104219731	missense	probably damaging	1.00
R5924:Magi3	UTSW	3	104054538	splice site	probably null
R6018:Magi3	UTSW	3	104105812	missense	probably damaging	1.00
R6189:Magi3	UTSW	3	104050865	missense	probably damaging	1.00
R6235:Magi3	UTSW	3	104016068	missense	probably damaging	0.99
R6244:Magi3	UTSW	3	104015697	missense	probably benign	0.16
R6258:Magi3	UTSW	3	104089596	missense	probably damaging	1.00
R6358:Magi3	UTSW	3	104050952	missense	probably damaging	1.00
R6534:Magi3	UTSW	3	104085220	missense	possibly damaging	0.75
R6806:Magi3	UTSW	3	104046969	missense	possibly damaging	0.94
R6816:Magi3	UTSW	3	104089911	splice site	probably null
R6897:Magi3	UTSW	3	104089557	missense	probably damaging	1.00
R7011:Magi3	UTSW	3	104105754	missense	probably damaging	1.00
R7039:Magi3	UTSW	3	104051383	missense	probably damaging	1.00
R7196:Magi3	UTSW	3	104049168	missense	probably benign	0.01
R7237:Magi3	UTSW	3	104027911	missense	probably damaging	1.00
R7285:Magi3	UTSW	3	104034114	missense	probably benign	0.00
R7709:Magi3	UTSW	3	104034038	missense	probably damaging	1.00
R7724:Magi3	UTSW	3	104015927	missense	probably benign	0.04
R7797:Magi3	UTSW	3	104051302	missense	probably damaging	1.00
R7950:Magi3	UTSW	3	104016689	missense	probably damaging	1.00
R8140:Magi3	UTSW	3	104034086	missense	probably damaging	1.00
R8204:Magi3	UTSW	3	104051186	missense	probably benign
R8229:Magi3	UTSW	3	104015701	missense	possibly damaging	0.79
R8229:Magi3	UTSW	3	104015702	missense	probably benign	0.00
R8348:Magi3	UTSW	3	104051215	missense	probably damaging	1.00
R8368:Magi3	UTSW	3	104095063	critical splice donor site	probably null
R8543:Magi3	UTSW	3	104219668	missense	probably damaging	0.98
R8762:Magi3	UTSW	3	104050853	missense	probably damaging	1.00
R8826:Magi3	UTSW	3	104085346	missense	probably benign	0.00
R8847:Magi3	UTSW	3	104015018	missense	probably benign	0.09
R8892:Magi3	UTSW	3	104050825	missense	probably damaging	1.00
R8939:Magi3	UTSW	3	104089432	intron	probably benign
R9090:Magi3	UTSW	3	104015948	missense	possibly damaging	0.68
R9187:Magi3	UTSW	3	104015757	missense	possibly damaging	0.76
R9271:Magi3	UTSW	3	104015948	missense	possibly damaging	0.68
R9433:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9439:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104015157	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104017617	missense	probably damaging	1.00
R9697:Magi3	UTSW	3	104049142	critical splice donor site	probably null
R9796:Magi3	UTSW	3	104020975	missense	probably benign
X0026:Magi3	UTSW	3	104020420	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGCGTTACCTAATGCCGTC -3'
(R):5'- CTTCTAGCCCCAAGAAGCAG -3'

Sequencing Primer
(F):5'- AATGCCGTCTTCTCTTGAGC -3'
(R):5'- GCCTGTCAAACACTGAAGGC -3'

Posted On

2020-07-28