Mutagenetix > Incidental Mutation

Incidental Mutation 'R2151:Magi3'

234248

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

040154-MU

Accession Numbers

Essential gene?

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

Stock #

R2151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104085238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 306 (Y306C)

Ref Sequence

ENSEMBL: ENSMUSP00000113713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064371
AA Change: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: Y306C

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 damaging
Transcript: ENSMUST00000121198
AA Change: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: Y306C

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 damaging
Transcript: ENSMUST00000122303
AA Change: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: Y306C

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

Meta Mutation Damage Score

0.4776

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	T	5: 5,478,875	V47I	possibly damaging	Het
4930447C04Rik	T	C	12: 72,907,951		probably null	Het
4930579F01Rik	A	G	3: 138,176,456		probably null	Het
Abhd17c	G	T	7: 84,151,455	H130Q	probably damaging	Het
Actr10	T	A	12: 70,940,801	C27*	probably null	Het
AF529169	T	G	9: 89,602,168	K392T	possibly damaging	Het
Als2	G	A	1: 59,207,789	H564Y	probably damaging	Het
Art5	A	G	7: 102,098,200	L124P	possibly damaging	Het
Asap2	A	T	12: 21,112,083	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102	N901S	probably benign	Het
Bicd2	G	T	13: 49,379,576	C546F	probably damaging	Het
Cnbp	C	T	6: 87,845,299	G81D	probably damaging	Het
Dnah5	T	C	15: 28,444,091	Y4012H	probably damaging	Het
Dok5	G	A	2: 170,800,896	G38D	probably damaging	Het
Drc3	A	T	11: 60,375,157	E224V	probably benign	Het
Ehd2	T	C	7: 15,952,203	K315E	probably damaging	Het
Eif6	A	T	2: 155,822,890	N225K	probably benign	Het
Epg5	T	C	18: 78,027,302	V2264A	probably benign	Het
Faf2	T	C	13: 54,648,407	F126L	probably damaging	Het
Fam71b	A	T	11: 46,405,331	K177*	probably null	Het
Fiz1	T	C	7: 5,012,881	S37G	possibly damaging	Het
Frs3	T	C	17: 47,703,062	S227P	probably benign	Het
Gm21188	C	T	13: 120,034,799	C178Y	unknown	Het
Gm4787	T	A	12: 81,377,219	I722F	probably benign	Het
Gm6370	T	A	5: 146,493,641	L212Q	probably damaging	Het
Gmnc	G	A	16: 26,960,706	H142Y	possibly damaging	Het
Gna15	T	C	10: 81,502,904	Y367C	probably damaging	Het
Gpr158	G	A	2: 21,827,514	V1142M	possibly damaging	Het
Gpx6	A	G	13: 21,318,971	K185R	probably damaging	Het
Hc	A	C	2: 34,991,103		probably benign	Het
Hdac9	A	G	12: 34,390,256	S375P	probably damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Klre1	G	A	6: 129,580,033	E33K	possibly damaging	Het
Ldhb	C	A	6: 142,498,670	V86L	possibly damaging	Het
Mmp17	T	C	5: 129,605,661	Y455H	probably benign	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Myo1a	T	C	10: 127,720,181	I969T	probably benign	Het
Nedd4l	T	A	18: 65,210,330	H820Q	probably damaging	Het
Nf1	T	A	11: 79,447,570	M1136K	possibly damaging	Het
Nmi	T	C	2: 51,952,543	E179G	probably damaging	Het
Nov	G	A	15: 54,752,458	A340T	probably benign	Het
Nrros	A	T	16: 32,143,258	M611K	probably benign	Het
Nsd1	A	T	13: 55,291,236	N1692I	probably damaging	Het
Nuak1	T	C	10: 84,409,645	N112S	probably benign	Het
Odf2l	T	C	3: 145,149,024	Y488H	possibly damaging	Het
Olfr1204	C	A	2: 88,852,784	P278H	probably damaging	Het
Olfr935	T	A	9: 38,994,716	T240S	probably damaging	Het
Olfr948	T	A	9: 39,319,117	I166F	probably damaging	Het
Otop2	A	G	11: 115,329,411	D359G	possibly damaging	Het
Pi4ka	A	T	16: 17,367,507	F243Y	probably benign	Het
Pnmal2	T	C	7: 16,945,912	C274R	probably benign	Het
Ppp1r42	A	G	1: 10,003,347	V6A	probably benign	Het
Prrg4	A	G	2: 104,839,388	L128S	probably damaging	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Psen2	A	G	1: 180,233,664	V278A	probably damaging	Het
Ptpn13	C	A	5: 103,525,785	T538K	probably damaging	Het
Rad51ap2	A	G	12: 11,457,985	H636R	probably benign	Het
Rbak	A	C	5: 143,176,502	D35E	possibly damaging	Het
Rbms1	C	A	2: 60,762,048		probably null	Het
Rgs7bp	T	A	13: 104,964,089	N226I	probably damaging	Het
Rnf182	T	A	13: 43,668,423	V150E	probably benign	Het
Sacs	A	G	14: 61,209,640	Y3045C	probably damaging	Het
Scp2	G	T	4: 108,063,944	A23E	probably benign	Het
Sec16a	A	T	2: 26,413,745		probably benign	Het
Slc30a5	A	T	13: 100,803,949	H619Q	probably damaging	Het
Slfn10-ps	T	A	11: 83,035,685		noncoding transcript	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Slx	T	A	X: 26,534,389		probably benign	Het
Spns3	C	A	11: 72,545,961		probably benign	Het
Stxbp1	T	A	2: 32,802,856	I383F	probably damaging	Het
Taf3	C	T	2: 9,951,566	E597K	possibly damaging	Het
Tbcd	A	G	11: 121,603,631	Q1006R	possibly damaging	Het
Tenm4	G	T	7: 96,902,847	V2498F	probably damaging	Het
Tex2	T	C	11: 106,567,335		probably benign	Het
Tkfc	A	T	19: 10,599,057	L154Q	probably damaging	Het
Tmem57	A	G	4: 134,811,223	V470A	probably benign	Het
Tmem62	A	G	2: 120,986,862	H257R	probably damaging	Het
Trpm2	T	C	10: 77,932,179	I829V	probably benign	Het
Ttc38	A	G	15: 85,851,601		probably null	Het
Ttn	A	T	2: 76,718,413	Y30135*	probably null	Het
Ttn	A	G	2: 76,980,133	V17A	probably benign	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn1r235	G	A	17: 21,262,366	V318I	probably benign	Het
Vmn2r76	T	C	7: 86,230,484	I203V	probably benign	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Zfp180	A	G	7: 24,105,260	H368R	probably damaging	Het
Zfp407	T	C	18: 84,209,649	D1945G	possibly damaging	Het
Zfyve27	G	T	19: 42,171,731	R62L	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
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
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'- GTGAAAGCTTAGAGATATTGGCATG -3'
(R):5'- GCCATTCTGTTTTCAACAATGACAG -3'

Sequencing Primer
(F):5'- GCTTAGAGATATTGGCATGAGTAATC -3'
(R):5'- CAGAAACTAGAGAGATGCATTCTG -3'

Posted On

2014-10-01