Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Magi3'

729349

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

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 104049142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067932 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

SMART Domains

Protein: ENSMUSP00000112934
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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,507		probably benign	Het
9330182O14Rik	C	T	15: 40,142,104		probably benign	Het
Adamts19	C	A	18: 58,968,762	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,314,471	W857R	possibly damaging	Het
Ak9	T	G	10: 41,422,972	Y1556*	probably null	Het
Ang2	T	C	14: 51,195,869	I19V	probably benign	Het
Ano3	T	A	2: 110,665,908	T834S	probably damaging	Het
As3mt	A	T	19: 46,719,981	I236F	probably benign	Het
Asns	A	T	6: 7,689,268	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471	T44M	probably damaging	Het
Cabyr	T	C	18: 12,751,350	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,612,637	V1601A		Het
Ccni	A	T	5: 93,202,342	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,719,866	I503T	probably damaging	Het
Cfap54	T	C	10: 92,956,989	K1754R	unknown	Het
Cfap69	A	G	5: 5,626,041	V218A	possibly damaging	Het
Clcn3	A	G	8: 60,919,484	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,178,002	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,999,784	G673D	probably benign	Het
Col4a2	A	G	8: 11,437,628	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,094,380	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,280,419	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,914,840	T577A	probably benign	Het
Dock2	A	T	11: 34,254,417	M1375K	probably benign	Het
Fa2h	G	A	8: 111,348,027	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,908,487	P112L	unknown	Het
Gin1	A	G	1: 97,785,172	I317V	probably benign	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
H2-T3	T	A	17: 36,189,852	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il12rb1	G	A	8: 70,811,230	W145*	probably null	Het
Il6ra	A	G	3: 89,877,912	V330A	probably benign	Het
Impdh2	T	C	9: 108,561,648	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,742,493	S85T	probably benign	Het
Mettl4	T	A	17: 94,727,378	I430F	probably damaging	Het
Mmd	T	A	11: 90,276,753	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,439,871	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,277,530	V367A	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,115,722	H10L	probably benign	Het
Olfr1461	G	A	19: 13,165,524	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,281,969	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,473,907		probably null	Het
Pik3c2g	G	A	6: 139,967,791	V972M	unknown	Het
Pink1	A	G	4: 138,314,012	C563R	possibly damaging	Het
Prol1	A	T	5: 88,318,567	N3I	probably benign	Het
Ptpro	T	G	6: 137,386,290	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,212,940	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,260,763	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,372,913	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Spen	A	G	4: 141,468,964	L3625P	probably damaging	Het
Stil	T	C	4: 115,021,504	I379T	probably benign	Het
Stim1	A	G	7: 102,428,807	D172G		Het
Timm50	A	G	7: 28,310,925	L68P	probably damaging	Het
Tlr9	C	T	9: 106,223,524	R5*	probably null	Het
Top1mt	A	T	15: 75,676,025	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,633,224	Y415H	possibly damaging	Het
Try10	C	T	6: 41,354,107		probably benign	Het
Uhrf2	A	G	19: 30,086,380	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,841,288	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,883,860	N228S	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	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
R8260:Magi3	UTSW	3	104015309	missense	probably benign	0.01
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
R9796:Magi3	UTSW	3	104020975	missense	probably benign
X0026:Magi3	UTSW	3	104020420	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCACAGACTTCAAAGGGAG -3'
(R):5'- CTGTTTCTGTGATTTAAGGAACCTC -3'

Sequencing Primer
(F):5'- AAGGGAGTTTCCTATCAATACCTGGG -3'
(R):5'- GCCTGACACGTTGTTGAT -3'

Posted On

2022-10-06