Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Magi3'

175402

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

039607-MU

Accession Numbers

Essential gene?

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

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103996843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 234 (M234R)

Ref Sequence

ENSEMBL: ENSMUSP00000112934 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064371
AA Change: M234R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: M234R

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: M234R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: M234R

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
AA Change: M234R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: M234R

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

noncoding transcript
Transcript: ENSMUST00000157391

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,137,799 (GRCm39)		probably null	Het
Adgb	A	T	10: 10,318,409 (GRCm39)	Y138*	probably null	Het
Adra1d	T	C	2: 131,388,092 (GRCm39)	R488G	possibly damaging	Het
Ahnak	G	A	19: 8,979,739 (GRCm39)	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,808,838 (GRCm39)	D690G	probably damaging	Het
Arhgef38	C	T	3: 132,838,225 (GRCm39)	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,857,155 (GRCm39)	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,167,314 (GRCm39)	H1062N	probably benign	Het
Bdnf	A	G	2: 109,554,139 (GRCm39)	H131R	probably damaging	Het
Cblb	C	T	16: 51,956,192 (GRCm39)	T265M	probably damaging	Het
Cenpe	T	A	3: 134,945,519 (GRCm39)	M1011K	probably benign	Het
Clca3a2	A	T	3: 144,781,410 (GRCm39)	Y711*	probably null	Het
Clca4a	A	G	3: 144,658,690 (GRCm39)	Y842H	probably benign	Het
Clspn	T	A	4: 126,475,310 (GRCm39)	M1021K	probably benign	Het
Cpne8	G	T	15: 90,503,845 (GRCm39)	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Dsp	T	C	13: 38,359,123 (GRCm39)	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553 (GRCm39)	K858R	probably null	Het
Fasn	A	T	11: 120,704,075 (GRCm39)	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,659,331 (GRCm39)	I322T	probably benign	Het
Gins2	T	C	8: 121,308,939 (GRCm39)	D105G	probably damaging	Het
Insr	A	T	8: 3,215,576 (GRCm39)	D975E	probably benign	Het
Klrc3	T	C	6: 129,616,510 (GRCm39)	D169G	probably benign	Het
Krt76	T	A	15: 101,793,443 (GRCm39)	S532C	unknown	Het
Lamp3	A	T	16: 19,492,275 (GRCm39)	M323K	probably damaging	Het
Lgmn	T	C	12: 102,360,868 (GRCm39)	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,508,538 (GRCm39)	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,063,373 (GRCm39)	I466N	probably damaging	Het
Myh14	G	A	7: 44,261,122 (GRCm39)	R1042*	probably null	Het
Nfia	T	G	4: 97,999,461 (GRCm39)	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,462,012 (GRCm39)	S383T	possibly damaging	Het
Or4f57	C	A	2: 111,790,585 (GRCm39)	V278F	probably benign	Het
Or52n4	T	A	7: 104,293,977 (GRCm39)	I199F	probably benign	Het
Or5b112	C	A	19: 13,319,539 (GRCm39)	P139Q	probably benign	Het
Or9s14	T	C	1: 92,535,676 (GRCm39)	L39P	probably damaging	Het
Osr1	G	A	12: 9,629,798 (GRCm39)		probably null	Het
Pde4b	A	C	4: 102,454,896 (GRCm39)	R375S	probably damaging	Het
Pde8a	A	G	7: 80,942,011 (GRCm39)	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,408,897 (GRCm39)		probably null	Het
Ppp3ca	A	G	3: 136,634,305 (GRCm39)	T422A	probably benign	Het
Proser1	T	C	3: 53,385,180 (GRCm39)	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,091,050 (GRCm39)	R127S	probably benign	Het
Sanbr	T	C	11: 23,539,971 (GRCm39)	K48E	probably damaging	Het
Sec22a	T	C	16: 35,167,998 (GRCm39)	D171G	probably benign	Het
Secisbp2	A	G	13: 51,827,143 (GRCm39)	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 33,158,895 (GRCm39)	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,865,375 (GRCm39)	S487T	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Spag6	A	G	2: 18,737,925 (GRCm39)	D265G	probably benign	Het
Spata31e2	T	C	1: 26,724,950 (GRCm39)	T77A	probably benign	Het
Sybu	G	T	15: 44,582,228 (GRCm39)	S132*	probably null	Het
Virma	T	C	4: 11,528,776 (GRCm39)	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 21,035,067 (GRCm39)	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358 (GRCm39)	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,289,010 (GRCm39)	V164I	probably benign	Het
Wfdc13	G	T	2: 164,528,854 (GRCm39)	A64S	probably damaging	Het
Zfp873	C	A	10: 81,896,113 (GRCm39)	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,040,843 (GRCm39)		probably null	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
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
R4285: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'- GCCAGAAAGATTCCCGTATCCCAG -3'
(R):5'- GCTGCCATCATTTTGTACACCACAG -3'

Sequencing Primer
(F):5'- GTTCCACACAGCTTTCATAGAG -3'
(R):5'- TTTCTATGGCACACCCAAGC -3'

Posted On

2014-04-24