Mutagenetix > Incidental Mutation

Incidental Mutation 'R8204:Magi3'

635801

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

067627-MU

Accession Numbers

Essential gene?

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

Stock #

R8204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103958502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 528 (C528S)

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 benign
Transcript: ENSMUST00000064371
AA Change: C528S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: C528S

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: C528S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: C528S

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: C528S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: C528S

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

0.1019

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,057,606 (GRCm39)	R731H	probably benign	Het
Arpp21	T	A	9: 111,965,638 (GRCm39)	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,817,566 (GRCm39)	S2086P		Het
BC034090	C	A	1: 155,117,488 (GRCm39)	G210V	probably damaging	Het
Cdk6	A	G	5: 3,394,461 (GRCm39)	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,781 (GRCm39)	E81K	probably damaging	Het
Cep20	T	C	16: 14,118,070 (GRCm39)	D150G	probably benign	Het
Clec4d	T	A	6: 123,242,323 (GRCm39)	V25D	probably damaging	Het
Cox8a	A	G	19: 7,192,845 (GRCm39)	I40T	probably benign	Het
Dlg5	A	G	14: 24,210,320 (GRCm39)	L792P	probably damaging	Het
Egln3	T	C	12: 54,250,010 (GRCm39)	Y113C	probably benign	Het
Exoc6b	C	T	6: 84,832,504 (GRCm39)	V397M	probably damaging	Het
Fat2	A	T	11: 55,175,436 (GRCm39)	L1759Q	probably benign	Het
Flg2	T	A	3: 93,110,074 (GRCm39)	S701T	unknown	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Git1	G	A	11: 77,396,161 (GRCm39)	D551N	probably benign	Het
Gpr137	C	T	19: 6,917,746 (GRCm39)	A21T	probably benign	Het
Grk3	A	G	5: 113,105,225 (GRCm39)	F171L	probably benign	Het
Hk1	A	G	10: 62,132,523 (GRCm39)	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,835,795 (GRCm39)	N308D	probably damaging	Het
Itga9	A	G	9: 118,700,989 (GRCm39)	N924S	probably damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Klhl20	T	C	1: 160,934,414 (GRCm39)	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,720,996 (GRCm39)	G37D	noncoding transcript	Het
Lancl2	C	A	6: 57,714,701 (GRCm39)	P440Q	probably damaging	Het
Lrba	T	C	3: 86,222,710 (GRCm39)	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,294,369 (GRCm39)	E254V	probably benign	Het
Mast3	T	C	8: 71,240,925 (GRCm39)	D224G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myrip	G	A	9: 120,262,045 (GRCm39)		probably null	Het
Or4f54	A	G	2: 111,123,485 (GRCm39)	R291G	probably damaging	Het
Or5af2	A	C	11: 58,707,885 (GRCm39)	D17A	probably benign	Het
Plekhg6	C	T	6: 125,340,461 (GRCm39)	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,292,733 (GRCm39)	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 21,177,035 (GRCm39)	E191G	probably benign	Het
Prkag2	T	C	5: 25,074,125 (GRCm39)		probably null	Het
Pyroxd2	A	T	19: 42,737,827 (GRCm39)	V48E	probably benign	Het
Sacs	T	C	14: 61,450,397 (GRCm39)	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 62,086,200 (GRCm39)	F5S	probably damaging	Het
Skint8	T	C	4: 111,796,090 (GRCm39)	S255P	probably benign	Het
Tacc2	A	T	7: 130,226,159 (GRCm39)	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,707,618 (GRCm39)	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,420,329 (GRCm39)	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,399,522 (GRCm39)	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,931,609 (GRCm39)	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,150,285 (GRCm39)	I46N	possibly damaging	Het
Wdfy3	A	G	5: 102,000,451 (GRCm39)	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,271,709 (GRCm39)	V564A	possibly 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
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
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'- TCACCTTCTGTCCAGTTGGG -3'
(R):5'- TCACACCCATGCAGATGTTGTC -3'

Sequencing Primer
(F):5'- CCTTTGGGGCCCTTAATCAGAG -3'
(R):5'- CCCATGCAGATGTTGTCCAGATG -3'

Posted On

2020-07-13