Mutagenetix > Incidental Mutation

Incidental Mutation 'R4285:Magi3'

322015

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

041080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.435) question?

Stock #

R4285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 103923184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1178 (G1178*)

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 null
Transcript: ENSMUST00000121198
AA Change: G1178*

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: G1178*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Ahnak	T	A	19: 8,994,203 (GRCm39)	C5162*	probably null	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,770,654 (GRCm39)	K39E	possibly damaging	Het
Coq6	C	T	12: 84,417,178 (GRCm39)		probably benign	Het
Dlc1	C	T	8: 37,041,282 (GRCm39)	E1316K	possibly damaging	Het
Dscam	A	G	16: 96,510,309 (GRCm39)		probably null	Het
Eya2	T	A	2: 165,566,700 (GRCm39)	N250K	probably benign	Het
Fat4	A	G	3: 38,943,320 (GRCm39)	I738V	probably benign	Het
Gria2	T	G	3: 80,614,969 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,852,247 (GRCm39)	D238E	probably damaging	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Kctd19	G	A	8: 106,109,581 (GRCm39)		probably benign	Het
Kdm1a	T	C	4: 136,309,347 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc1	C	A	1: 153,110,298 (GRCm39)	G1126W	probably damaging	Het
Man2a2	T	C	7: 80,018,367 (GRCm39)	D141G	probably damaging	Het
Map2k1	C	A	9: 64,119,925 (GRCm39)	V127L	probably damaging	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mxd3	A	G	13: 55,477,167 (GRCm39)	S31P	probably benign	Het
Myo5b	G	A	18: 74,847,920 (GRCm39)	E1053K	probably benign	Het
Nup50l	T	C	6: 96,142,733 (GRCm39)	T104A	probably benign	Het
Or2m12	A	C	16: 19,104,714 (GRCm39)	F260V	probably damaging	Het
Or51a5	G	T	7: 102,771,867 (GRCm39)	Y37*	probably null	Het
Pex5l	A	G	3: 33,061,336 (GRCm39)	I171T	probably damaging	Het
Plag1	A	G	4: 3,905,654 (GRCm39)	V12A	probably benign	Het
Podn	C	A	4: 107,878,893 (GRCm39)	V180L	possibly damaging	Het
Prox2	T	A	12: 85,141,698 (GRCm39)	R168S	probably benign	Het
Prss29	A	G	17: 25,541,231 (GRCm39)	Y225C	probably damaging	Het
Rassf2	G	A	2: 131,847,314 (GRCm39)	T97I	probably benign	Het
Samm50	T	C	15: 84,081,213 (GRCm39)	V47A	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
St6galnac3	A	C	3: 152,912,360 (GRCm39)	V161G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Vat1l	A	G	8: 114,932,523 (GRCm39)	E23G	probably damaging	Het
Vmn2r91	A	G	17: 18,356,030 (GRCm39)	T566A	probably benign	Het
Wls	A	T	3: 159,639,902 (GRCm39)	H511L	probably benign	Het
Zfp644	G	A	5: 106,782,984 (GRCm39)	T1130I	probably damaging	Het

Other mutations in Magi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Magi3	APN	3	103,922,294 (GRCm39)	missense	probably damaging	1.00
IGL00933:Magi3	APN	3	103,923,163 (GRCm39)	missense	probably benign
IGL01151:Magi3	APN	3	103,958,690 (GRCm39)	missense	probably damaging	1.00
IGL01674:Magi3	APN	3	104,013,037 (GRCm39)	splice site	probably benign
IGL01790:Magi3	APN	3	103,992,560 (GRCm39)	missense	probably damaging	1.00
IGL01903:Magi3	APN	3	103,958,526 (GRCm39)	missense	possibly damaging	0.87
IGL01939:Magi3	APN	3	103,961,778 (GRCm39)	missense	probably damaging	0.99
IGL02142:Magi3	APN	3	103,923,219 (GRCm39)	missense	probably benign	0.32
IGL02183:Magi3	APN	3	103,992,663 (GRCm39)	missense	probably benign	0.01
IGL02887:Magi3	APN	3	104,002,473 (GRCm39)	missense	probably damaging	1.00
IGL03071:Magi3	APN	3	103,923,202 (GRCm39)	missense	possibly damaging	0.51
IGL03085:Magi3	APN	3	103,922,655 (GRCm39)	missense	possibly damaging	0.88
IGL03192:Magi3	APN	3	103,950,562 (GRCm39)	missense	probably damaging	1.00
IGL03204:Magi3	APN	3	104,013,151 (GRCm39)	missense	probably damaging	1.00
IGL03227:Magi3	APN	3	103,958,435 (GRCm39)	missense	probably benign
IGL03388:Magi3	APN	3	103,923,157 (GRCm39)	missense	probably benign	0.30
PIT4280001:Magi3	UTSW	3	103,961,668 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Magi3	UTSW	3	103,922,842 (GRCm39)	missense	probably benign	0.05
R0092:Magi3	UTSW	3	103,958,280 (GRCm39)	nonsense	probably null
R0514:Magi3	UTSW	3	103,922,338 (GRCm39)	missense	probably damaging	1.00
R0569:Magi3	UTSW	3	103,923,358 (GRCm39)	missense	probably benign	0.43
R0608:Magi3	UTSW	3	103,924,873 (GRCm39)	missense	probably damaging	1.00
R0920:Magi3	UTSW	3	103,941,507 (GRCm39)	splice site	probably null
R1173:Magi3	UTSW	3	103,968,946 (GRCm39)	critical splice donor site	probably null
R1256:Magi3	UTSW	3	103,935,126 (GRCm39)	missense	probably benign	0.08
R1391:Magi3	UTSW	3	103,922,374 (GRCm39)	nonsense	probably null
R1559:Magi3	UTSW	3	103,954,169 (GRCm39)	splice site	probably benign
R1568:Magi3	UTSW	3	103,996,843 (GRCm39)	missense	probably benign	0.02
R1631:Magi3	UTSW	3	103,958,493 (GRCm39)	missense	probably benign	0.05
R1747:Magi3	UTSW	3	103,941,489 (GRCm39)	missense	possibly damaging	0.82
R1930:Magi3	UTSW	3	103,996,920 (GRCm39)	missense	probably damaging	1.00
R1964:Magi3	UTSW	3	103,927,718 (GRCm39)	missense	probably damaging	0.99
R2151:Magi3	UTSW	3	103,992,554 (GRCm39)	missense	probably damaging	1.00
R2151:Magi3	UTSW	3	103,954,198 (GRCm39)	missense	probably damaging	1.00
R2266:Magi3	UTSW	3	103,928,382 (GRCm39)	intron	probably benign
R2267:Magi3	UTSW	3	103,928,382 (GRCm39)	intron	probably benign
R2268:Magi3	UTSW	3	103,928,382 (GRCm39)	intron	probably benign
R2519:Magi3	UTSW	3	103,923,081 (GRCm39)	missense	probably benign	0.00
R3104:Magi3	UTSW	3	103,958,636 (GRCm39)	missense	probably damaging	0.99
R3105:Magi3	UTSW	3	103,958,636 (GRCm39)	missense	probably damaging	0.99
R3619:Magi3	UTSW	3	103,961,721 (GRCm39)	missense	probably damaging	1.00
R4158:Magi3	UTSW	3	103,958,277 (GRCm39)	missense	probably damaging	1.00
R4160:Magi3	UTSW	3	103,958,277 (GRCm39)	missense	probably damaging	1.00
R4284:Magi3	UTSW	3	103,923,184 (GRCm39)	nonsense	probably null
R4397:Magi3	UTSW	3	104,127,030 (GRCm39)	missense	probably damaging	1.00
R4512:Magi3	UTSW	3	103,996,871 (GRCm39)	missense	probably damaging	0.99
R4676:Magi3	UTSW	3	103,923,141 (GRCm39)	missense	probably benign
R4758:Magi3	UTSW	3	103,922,637 (GRCm39)	missense	probably benign	0.01
R4940:Magi3	UTSW	3	103,958,708 (GRCm39)	missense	probably damaging	1.00
R5039:Magi3	UTSW	3	104,013,107 (GRCm39)	missense	probably damaging	1.00
R5160:Magi3	UTSW	3	103,935,224 (GRCm39)	missense	possibly damaging	0.46
R5422:Magi3	UTSW	3	103,958,684 (GRCm39)	missense	probably damaging	1.00
R5509:Magi3	UTSW	3	103,922,818 (GRCm39)	missense	probably benign	0.00
R5839:Magi3	UTSW	3	104,127,047 (GRCm39)	missense	probably damaging	1.00
R5924:Magi3	UTSW	3	103,961,854 (GRCm39)	splice site	probably null
R6018:Magi3	UTSW	3	104,013,128 (GRCm39)	missense	probably damaging	1.00
R6189:Magi3	UTSW	3	103,958,181 (GRCm39)	missense	probably damaging	1.00
R6235:Magi3	UTSW	3	103,923,384 (GRCm39)	missense	probably damaging	0.99
R6244:Magi3	UTSW	3	103,923,013 (GRCm39)	missense	probably benign	0.16
R6258:Magi3	UTSW	3	103,996,912 (GRCm39)	missense	probably damaging	1.00
R6358:Magi3	UTSW	3	103,958,268 (GRCm39)	missense	probably damaging	1.00
R6534:Magi3	UTSW	3	103,992,536 (GRCm39)	missense	possibly damaging	0.75
R6806:Magi3	UTSW	3	103,954,285 (GRCm39)	missense	possibly damaging	0.94
R6816:Magi3	UTSW	3	103,997,227 (GRCm39)	splice site	probably null
R6897:Magi3	UTSW	3	103,996,873 (GRCm39)	missense	probably damaging	1.00
R7011:Magi3	UTSW	3	104,013,070 (GRCm39)	missense	probably damaging	1.00
R7039:Magi3	UTSW	3	103,958,699 (GRCm39)	missense	probably damaging	1.00
R7196:Magi3	UTSW	3	103,956,484 (GRCm39)	missense	probably benign	0.01
R7237:Magi3	UTSW	3	103,935,227 (GRCm39)	missense	probably damaging	1.00
R7285:Magi3	UTSW	3	103,941,430 (GRCm39)	missense	probably benign	0.00
R7709:Magi3	UTSW	3	103,941,354 (GRCm39)	missense	probably damaging	1.00
R7724:Magi3	UTSW	3	103,923,243 (GRCm39)	missense	probably benign	0.04
R7797:Magi3	UTSW	3	103,958,618 (GRCm39)	missense	probably damaging	1.00
R7950:Magi3	UTSW	3	103,924,005 (GRCm39)	missense	probably damaging	1.00
R8140:Magi3	UTSW	3	103,941,402 (GRCm39)	missense	probably damaging	1.00
R8204:Magi3	UTSW	3	103,958,502 (GRCm39)	missense	probably benign
R8229:Magi3	UTSW	3	103,923,018 (GRCm39)	missense	probably benign	0.00
R8229:Magi3	UTSW	3	103,923,017 (GRCm39)	missense	possibly damaging	0.79
R8260:Magi3	UTSW	3	103,922,625 (GRCm39)	missense	probably benign	0.01
R8348:Magi3	UTSW	3	103,958,531 (GRCm39)	missense	probably damaging	1.00
R8368:Magi3	UTSW	3	104,002,379 (GRCm39)	critical splice donor site	probably null
R8543:Magi3	UTSW	3	104,126,984 (GRCm39)	missense	probably damaging	0.98
R8762:Magi3	UTSW	3	103,958,169 (GRCm39)	missense	probably damaging	1.00
R8826:Magi3	UTSW	3	103,992,662 (GRCm39)	missense	probably benign	0.00
R8847:Magi3	UTSW	3	103,922,334 (GRCm39)	missense	probably benign	0.09
R8892:Magi3	UTSW	3	103,958,141 (GRCm39)	missense	probably damaging	1.00
R8939:Magi3	UTSW	3	103,996,748 (GRCm39)	intron	probably benign
R9090:Magi3	UTSW	3	103,923,264 (GRCm39)	missense	possibly damaging	0.68
R9187:Magi3	UTSW	3	103,923,073 (GRCm39)	missense	possibly damaging	0.76
R9271:Magi3	UTSW	3	103,923,264 (GRCm39)	missense	possibly damaging	0.68
R9433:Magi3	UTSW	3	103,922,473 (GRCm39)	missense	probably benign	0.01
R9439:Magi3	UTSW	3	103,922,473 (GRCm39)	missense	probably benign	0.01
R9557:Magi3	UTSW	3	103,924,933 (GRCm39)	missense	probably damaging	1.00
R9557:Magi3	UTSW	3	103,922,473 (GRCm39)	missense	probably benign	0.01
R9697:Magi3	UTSW	3	103,956,458 (GRCm39)	critical splice donor site	probably null
R9796:Magi3	UTSW	3	103,928,291 (GRCm39)	missense	probably benign
X0026:Magi3	UTSW	3	103,927,736 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAATGTTCCTCTGAATGTCGG -3'
(R):5'- CCTTGAATGTAACAATGTTCTGCTC -3'

Sequencing Primer
(F):5'- ATGTTCCTCTGAATGTCGGTTAAC -3'
(R):5'- GGGATACTAATAGTCCTTCATCTTCC -3'

Posted On

2015-06-20