Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Magi3'

505432

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: 0.408) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 104015697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 1235 (H1235D)

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: H1235D

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: H1235D

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

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352		probably null	Het
Brap	C	A	5: 121,665,309	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566		probably null	Het
Dpp6	A	G	5: 27,049,628	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776		probably null	Het
Fen1	A	G	19: 10,200,687	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058		probably null	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558		probably null	Het
Polr2a	G	A	11: 69,744,226	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Sc5d	T	C	9: 42,255,421	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828		probably null	Het
Serpinb11	T	A	1: 107,372,242	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712		probably null	Het
Strn3	A	G	12: 51,610,107	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971	Y426H	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
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
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'- CAGCCTCTGATAATTTGCCTTCAG -3'
(R):5'- TAAATGGAAGCCAGCCTGAG -3'

Sequencing Primer
(F):5'- GCCTTCAGTGTTTGACAGGC -3'
(R):5'- CCTGAGATGAAGTATCAGTCTGTCC -3'

Posted On

2018-02-28