Mutagenetix > Incidental Mutation

Incidental Mutation 'R8368:Magi3'

646247

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

067738-MU

Accession Numbers

Essential gene?

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

Stock #

R8368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 104002379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
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

SMART Domains

Protein: ENSMUSP00000112934
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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,619,455 (GRCm39)	S710T	probably damaging	Het
Asb10	A	C	5: 24,744,615 (GRCm39)	I193S	probably benign	Het
C2cd6	A	G	1: 59,133,820 (GRCm39)	L67P	probably benign	Het
Ccdc14	T	C	16: 34,543,742 (GRCm39)	L748P	probably benign	Het
Cers4	T	G	8: 4,565,698 (GRCm39)	V48G	probably benign	Het
Chrna10	T	C	7: 101,764,223 (GRCm39)	T54A	probably benign	Het
Dip2b	T	C	15: 100,052,124 (GRCm39)	S242P	probably benign	Het
Fam151a	A	G	4: 106,604,190 (GRCm39)	T325A	probably benign	Het
Gm21190	A	T	5: 15,729,848 (GRCm39)	S257T	possibly damaging	Het
Gm49368	T	C	7: 127,713,921 (GRCm39)	S909P	probably benign	Het
Gm5150	C	A	3: 16,044,902 (GRCm39)	V108F	probably damaging	Het
Gsdmc2	G	A	15: 63,696,902 (GRCm39)	T423I	probably damaging	Het
Hsf2	T	A	10: 57,388,241 (GRCm39)	C501S	probably damaging	Het
Igf1r	A	G	7: 67,836,796 (GRCm39)	N551D	probably benign	Het
Kctd3	G	A	1: 188,704,404 (GRCm39)	T789I	probably benign	Het
Lad1	A	G	1: 135,759,264 (GRCm39)	E474G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Nrdc	A	G	4: 108,870,895 (GRCm39)	D174G	probably benign	Het
Nrxn3	T	A	12: 90,298,815 (GRCm39)	Y445*	probably null	Het
Otol1	A	G	3: 69,935,199 (GRCm39)	Y397C	probably damaging	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Rad21l	A	G	2: 151,495,390 (GRCm39)	V431A	probably benign	Het
Rad50	A	G	11: 53,574,155 (GRCm39)	L694S	possibly damaging	Het
Rasal1	A	G	5: 120,809,615 (GRCm39)	S507G	probably damaging	Het
Ros1	T	A	10: 51,940,833 (GRCm39)	D2162V	probably damaging	Het
Samd7	A	T	3: 30,819,574 (GRCm39)	D441V	probably damaging	Het
Senp1	T	C	15: 97,943,255 (GRCm39)	S623G	probably damaging	Het
Shld1	T	C	2: 132,592,433 (GRCm39)	I160T	probably benign	Het
Slc23a3	G	T	1: 75,106,281 (GRCm39)	P313T	probably damaging	Het
Slc66a2	T	C	18: 80,334,873 (GRCm39)	S231P	probably benign	Het
Stab1	T	C	14: 30,870,368 (GRCm39)	D1320G	possibly damaging	Het
Tdpoz7	A	G	3: 93,979,893 (GRCm39)	F20S	probably damaging	Het
Tinf2	T	C	14: 55,917,030 (GRCm39)	T372A	probably damaging	Het
Trim45	A	G	3: 100,830,672 (GRCm39)	T149A	possibly damaging	Het
Trim63	TGAGGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAGGAG	4: 134,055,017 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,838,070 (GRCm39)	S927N	probably benign	Het
Uqcrfs1	C	A	13: 30,724,799 (GRCm39)	G247V	probably damaging	Het
Zfp143	A	T	7: 109,682,455 (GRCm39)	N342I	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
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
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'- TGCTTTTGGTTATTGTCTAATTCCAT -3'
(R):5'- TGAACTTTATAGCATTCTGAGTACTTG -3'

Sequencing Primer
(F):5'- GCTGGCTTCAGACTCAGAAATCTG -3'
(R):5'- TCCTTAGGCACTACAAGGG -3'

Posted On

2020-09-02