Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Magi3'

284317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magi3

Ensembl Gene

ENSMUSG00000052539

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 3

Synonyms

4732496O19Rik, 6530407C02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103992663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 270 (M270L)

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: M270L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: M270L

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: M270L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: M270L

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: M270L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: M270L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	T	A	X: 162,960,465 (GRCm39)		probably benign	Het
Acsm4	A	T	7: 119,293,075 (GRCm39)		probably null	Het
Apcdd1	T	C	18: 63,084,925 (GRCm39)	M374T	probably damaging	Het
Arid4b	A	G	13: 14,344,575 (GRCm39)	E551G	possibly damaging	Het
Bag4	A	T	8: 26,258,058 (GRCm39)	L423Q	probably damaging	Het
Celf1	C	T	2: 90,831,831 (GRCm39)	P96S	probably damaging	Het
Cracdl	G	A	1: 37,664,459 (GRCm39)	P480S	possibly damaging	Het
Cry2	G	A	2: 92,243,384 (GRCm39)	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,825,477 (GRCm39)	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,886 (GRCm39)	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,118,384 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,847,228 (GRCm39)	C1695S	possibly damaging	Het
Elmo3	T	C	8: 106,034,955 (GRCm39)	L415P	probably benign	Het
Entpd5	A	G	12: 84,427,154 (GRCm39)		probably benign	Het
Gpatch11	T	C	17: 79,149,660 (GRCm39)		probably null	Het
Gprin3	C	A	6: 59,330,147 (GRCm39)	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460 (GRCm39)	T358P	probably damaging	Het
Hcn2	T	C	10: 79,560,647 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,221 (GRCm39)	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,799,635 (GRCm39)	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,302,034 (GRCm39)	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,917,403 (GRCm39)		probably benign	Het
Ighg2b	A	G	12: 113,271,449 (GRCm39)	S35P	unknown	Het
Jmy	T	C	13: 93,635,750 (GRCm39)	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,552,669 (GRCm39)	I1215T	probably benign	Het
Krt84	T	C	15: 101,440,791 (GRCm39)	I134V	unknown	Het
Maneal	G	A	4: 124,754,209 (GRCm39)	T198I	probably benign	Het
Map7d3	A	G	X: 55,867,591 (GRCm39)		probably benign	Het
Myh7	T	A	14: 55,212,188 (GRCm39)	T1519S	probably benign	Het
Myo5a	T	C	9: 75,074,518 (GRCm39)		probably benign	Het
Naip5	T	C	13: 100,358,150 (GRCm39)	S1029G	probably benign	Het
Or14j1	G	T	17: 38,146,304 (GRCm39)	C138F	probably damaging	Het
Or4c11c	A	T	2: 88,662,372 (GRCm39)	I304F	probably benign	Het
Or4g16	T	A	2: 111,136,763 (GRCm39)	V71E	probably damaging	Het
Or5d14	T	C	2: 87,880,333 (GRCm39)	T212A	possibly damaging	Het
Or5k15	T	A	16: 58,710,184 (GRCm39)	Q133L	probably benign	Het
Pald1	A	T	10: 61,182,920 (GRCm39)		probably benign	Het
Pan2	T	A	10: 128,144,944 (GRCm39)	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 94,123,720 (GRCm39)	I817V	probably benign	Het
Piezo2	A	G	18: 63,153,705 (GRCm39)	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,442,167 (GRCm39)		probably null	Het
Prdm6	T	C	18: 53,597,749 (GRCm39)		probably benign	Het
Prr5l	A	T	2: 101,602,465 (GRCm39)		probably benign	Het
Rab3gap2	T	A	1: 185,003,665 (GRCm39)	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,160,543 (GRCm39)	H669R	probably damaging	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rnf17	T	A	14: 56,745,325 (GRCm39)	D1360E	probably null	Het
Sag	T	C	1: 87,756,197 (GRCm39)		probably null	Het
Scn2a	C	T	2: 65,501,947 (GRCm39)	T90I	probably benign	Het
Scn9a	T	A	2: 66,314,955 (GRCm39)		probably benign	Het
Serpinb13	T	C	1: 106,926,640 (GRCm39)	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,544,134 (GRCm39)	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,867,669 (GRCm39)		probably benign	Het
Slitrk3	A	T	3: 72,957,312 (GRCm39)	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,836,671 (GRCm39)	M279T	probably benign	Het
Tmem161b	T	C	13: 84,420,373 (GRCm39)	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,426,874 (GRCm39)		probably benign	Het
Ubxn7	T	C	16: 32,188,201 (GRCm39)	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,614,963 (GRCm39)	L209P	probably damaging	Het
Wdr73	A	T	7: 80,543,508 (GRCm39)	W136R	probably damaging	Het
Wif1	C	T	10: 120,911,181 (GRCm39)	R107C	probably damaging	Het
Ythdf2	G	T	4: 131,932,885 (GRCm39)	L92M	probably benign	Het
Zfp53	T	A	17: 21,720,512 (GRCm39)	I34N	possibly damaging	Het
Zpld2	A	G	4: 133,929,291 (GRCm39)	L338S	probably benign	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
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
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

Posted On

2015-04-16