Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Magi3'

555998

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104013259-104220374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104015526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1292 (Q1292K)

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 benign
Transcript: ENSMUST00000121198
AA Change: Q1292K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: Q1292K

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

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192 (GRCm38)	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352 (GRCm38)	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099 (GRCm38)	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625 (GRCm38)	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419 (GRCm38)	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499 (GRCm38)	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216 (GRCm38)	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009 (GRCm38)	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800 (GRCm38)	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011 (GRCm38)		probably null	Het
Ddx60	A	G	8: 61,958,113 (GRCm38)	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004 (GRCm38)	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883 (GRCm38)	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948 (GRCm38)	R586*	probably null	Het
Ermard	T	A	17: 15,058,822 (GRCm38)	C460*	probably null	Het
Fat2	C	T	11: 55,256,110 (GRCm38)	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417 (GRCm38)	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823 (GRCm38)	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916 (GRCm38)	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458 (GRCm38)	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875 (GRCm38)	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863 (GRCm38)	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881 (GRCm38)	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497 (GRCm38)	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097 (GRCm38)	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm38)	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739 (GRCm38)	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935 (GRCm38)	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871 (GRCm38)	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027 (GRCm38)	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403 (GRCm38)	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537 (GRCm38)	Y726F	probably benign	Het
Mllt3	A	C	4: 87,774,087 (GRCm38)	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221 (GRCm38)	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879 (GRCm38)	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122 (GRCm38)	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169 (GRCm38)	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308 (GRCm38)	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494 (GRCm38)	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130 (GRCm38)	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152 (GRCm38)	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390 (GRCm38)	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985 (GRCm38)	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460 (GRCm38)	I317L		Het
Scnn1g	C	A	7: 121,742,331 (GRCm38)	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110 (GRCm38)		probably null	Het
Tenm3	A	T	8: 48,293,657 (GRCm38)	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051 (GRCm38)	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682 (GRCm38)	S715P	unknown	Het
Usp13	A	C	3: 32,905,430 (GRCm38)	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970 (GRCm38)	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976 (GRCm38)	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621 (GRCm38)	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881 (GRCm38)		probably null	Het
Zfr	A	G	15: 12,166,158 (GRCm38)	E838G	possibly damaging	Het

Other mutations in Magi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Magi3	APN	3	104,014,978 (GRCm38)	missense	probably damaging	1.00
IGL00933:Magi3	APN	3	104,015,847 (GRCm38)	missense	probably benign
IGL01151:Magi3	APN	3	104,051,374 (GRCm38)	missense	probably damaging	1.00
IGL01674:Magi3	APN	3	104,105,721 (GRCm38)	splice site	probably benign
IGL01790:Magi3	APN	3	104,085,244 (GRCm38)	missense	probably damaging	1.00
IGL01903:Magi3	APN	3	104,051,210 (GRCm38)	missense	possibly damaging	0.87
IGL01939:Magi3	APN	3	104,054,462 (GRCm38)	missense	probably damaging	0.99
IGL02142:Magi3	APN	3	104,015,903 (GRCm38)	missense	probably benign	0.32
IGL02183:Magi3	APN	3	104,085,347 (GRCm38)	missense	probably benign	0.01
IGL02887:Magi3	APN	3	104,095,157 (GRCm38)	missense	probably damaging	1.00
IGL03071:Magi3	APN	3	104,015,886 (GRCm38)	missense	possibly damaging	0.51
IGL03085:Magi3	APN	3	104,015,339 (GRCm38)	missense	possibly damaging	0.88
IGL03192:Magi3	APN	3	104,043,246 (GRCm38)	missense	probably damaging	1.00
IGL03204:Magi3	APN	3	104,105,835 (GRCm38)	missense	probably damaging	1.00
IGL03227:Magi3	APN	3	104,051,119 (GRCm38)	missense	probably benign
IGL03388:Magi3	APN	3	104,015,841 (GRCm38)	missense	probably benign	0.30
PIT4280001:Magi3	UTSW	3	104,054,352 (GRCm38)	missense	probably damaging	1.00
R0092:Magi3	UTSW	3	104,050,964 (GRCm38)	nonsense	probably null
R0514:Magi3	UTSW	3	104,015,022 (GRCm38)	missense	probably damaging	1.00
R0569:Magi3	UTSW	3	104,016,042 (GRCm38)	missense	probably benign	0.43
R0608:Magi3	UTSW	3	104,017,557 (GRCm38)	missense	probably damaging	1.00
R0920:Magi3	UTSW	3	104,034,191 (GRCm38)	splice site	probably null
R1173:Magi3	UTSW	3	104,061,630 (GRCm38)	critical splice donor site	probably null
R1256:Magi3	UTSW	3	104,027,810 (GRCm38)	missense	probably benign	0.08
R1391:Magi3	UTSW	3	104,015,058 (GRCm38)	nonsense	probably null
R1559:Magi3	UTSW	3	104,046,853 (GRCm38)	splice site	probably benign
R1568:Magi3	UTSW	3	104,089,527 (GRCm38)	missense	probably benign	0.02
R1631:Magi3	UTSW	3	104,051,177 (GRCm38)	missense	probably benign	0.05
R1747:Magi3	UTSW	3	104,034,173 (GRCm38)	missense	possibly damaging	0.82
R1930:Magi3	UTSW	3	104,089,604 (GRCm38)	missense	probably damaging	1.00
R1964:Magi3	UTSW	3	104,020,402 (GRCm38)	missense	probably damaging	0.99
R2151:Magi3	UTSW	3	104,085,238 (GRCm38)	missense	probably damaging	1.00
R2151:Magi3	UTSW	3	104,046,882 (GRCm38)	missense	probably damaging	1.00
R2266:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2267:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2268:Magi3	UTSW	3	104,021,066 (GRCm38)	intron	probably benign
R2519:Magi3	UTSW	3	104,015,765 (GRCm38)	missense	probably benign	0.00
R3104:Magi3	UTSW	3	104,051,320 (GRCm38)	missense	probably damaging	0.99
R3105:Magi3	UTSW	3	104,051,320 (GRCm38)	missense	probably damaging	0.99
R3619:Magi3	UTSW	3	104,054,405 (GRCm38)	missense	probably damaging	1.00
R4158:Magi3	UTSW	3	104,050,961 (GRCm38)	missense	probably damaging	1.00
R4160:Magi3	UTSW	3	104,050,961 (GRCm38)	missense	probably damaging	1.00
R4284:Magi3	UTSW	3	104,015,868 (GRCm38)	nonsense	probably null
R4285:Magi3	UTSW	3	104,015,868 (GRCm38)	nonsense	probably null
R4397:Magi3	UTSW	3	104,219,714 (GRCm38)	missense	probably damaging	1.00
R4512:Magi3	UTSW	3	104,089,555 (GRCm38)	missense	probably damaging	0.99
R4676:Magi3	UTSW	3	104,015,825 (GRCm38)	missense	probably benign
R4758:Magi3	UTSW	3	104,015,321 (GRCm38)	missense	probably benign	0.01
R4940:Magi3	UTSW	3	104,051,392 (GRCm38)	missense	probably damaging	1.00
R5039:Magi3	UTSW	3	104,105,791 (GRCm38)	missense	probably damaging	1.00
R5160:Magi3	UTSW	3	104,027,908 (GRCm38)	missense	possibly damaging	0.46
R5422:Magi3	UTSW	3	104,051,368 (GRCm38)	missense	probably damaging	1.00
R5509:Magi3	UTSW	3	104,015,502 (GRCm38)	missense	probably benign	0.00
R5839:Magi3	UTSW	3	104,219,731 (GRCm38)	missense	probably damaging	1.00
R5924:Magi3	UTSW	3	104,054,538 (GRCm38)	splice site	probably null
R6018:Magi3	UTSW	3	104,105,812 (GRCm38)	missense	probably damaging	1.00
R6189:Magi3	UTSW	3	104,050,865 (GRCm38)	missense	probably damaging	1.00
R6235:Magi3	UTSW	3	104,016,068 (GRCm38)	missense	probably damaging	0.99
R6244:Magi3	UTSW	3	104,015,697 (GRCm38)	missense	probably benign	0.16
R6258:Magi3	UTSW	3	104,089,596 (GRCm38)	missense	probably damaging	1.00
R6358:Magi3	UTSW	3	104,050,952 (GRCm38)	missense	probably damaging	1.00
R6534:Magi3	UTSW	3	104,085,220 (GRCm38)	missense	possibly damaging	0.75
R6806:Magi3	UTSW	3	104,046,969 (GRCm38)	missense	possibly damaging	0.94
R6816:Magi3	UTSW	3	104,089,911 (GRCm38)	splice site	probably null
R6897:Magi3	UTSW	3	104,089,557 (GRCm38)	missense	probably damaging	1.00
R7011:Magi3	UTSW	3	104,105,754 (GRCm38)	missense	probably damaging	1.00
R7039:Magi3	UTSW	3	104,051,383 (GRCm38)	missense	probably damaging	1.00
R7196:Magi3	UTSW	3	104,049,168 (GRCm38)	missense	probably benign	0.01
R7237:Magi3	UTSW	3	104,027,911 (GRCm38)	missense	probably damaging	1.00
R7285:Magi3	UTSW	3	104,034,114 (GRCm38)	missense	probably benign	0.00
R7709:Magi3	UTSW	3	104,034,038 (GRCm38)	missense	probably damaging	1.00
R7724:Magi3	UTSW	3	104,015,927 (GRCm38)	missense	probably benign	0.04
R7797:Magi3	UTSW	3	104,051,302 (GRCm38)	missense	probably damaging	1.00
R7950:Magi3	UTSW	3	104,016,689 (GRCm38)	missense	probably damaging	1.00
R8140:Magi3	UTSW	3	104,034,086 (GRCm38)	missense	probably damaging	1.00
R8204:Magi3	UTSW	3	104,051,186 (GRCm38)	missense	probably benign
R8229:Magi3	UTSW	3	104,015,702 (GRCm38)	missense	probably benign	0.00
R8229:Magi3	UTSW	3	104,015,701 (GRCm38)	missense	possibly damaging	0.79
R8260:Magi3	UTSW	3	104,015,309 (GRCm38)	missense	probably benign	0.01
R8348:Magi3	UTSW	3	104,051,215 (GRCm38)	missense	probably damaging	1.00
R8368:Magi3	UTSW	3	104,095,063 (GRCm38)	critical splice donor site	probably null
R8543:Magi3	UTSW	3	104,219,668 (GRCm38)	missense	probably damaging	0.98
R8762:Magi3	UTSW	3	104,050,853 (GRCm38)	missense	probably damaging	1.00
R8826:Magi3	UTSW	3	104,085,346 (GRCm38)	missense	probably benign	0.00
R8847:Magi3	UTSW	3	104,015,018 (GRCm38)	missense	probably benign	0.09
R8892:Magi3	UTSW	3	104,050,825 (GRCm38)	missense	probably damaging	1.00
R8939:Magi3	UTSW	3	104,089,432 (GRCm38)	intron	probably benign
R9090:Magi3	UTSW	3	104,015,948 (GRCm38)	missense	possibly damaging	0.68
R9187:Magi3	UTSW	3	104,015,757 (GRCm38)	missense	possibly damaging	0.76
R9271:Magi3	UTSW	3	104,015,948 (GRCm38)	missense	possibly damaging	0.68
R9433:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9439:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9557:Magi3	UTSW	3	104,017,617 (GRCm38)	missense	probably damaging	1.00
R9557:Magi3	UTSW	3	104,015,157 (GRCm38)	missense	probably benign	0.01
R9697:Magi3	UTSW	3	104,049,142 (GRCm38)	critical splice donor site	probably null
R9796:Magi3	UTSW	3	104,020,975 (GRCm38)	missense	probably benign
X0026:Magi3	UTSW	3	104,020,420 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTACCCTACCAGCAGTGC -3'
(R):5'- CCGACATTCAGAGGAACATTTGG -3'

Sequencing Primer
(F):5'- TGGATGGGAGAGATGTTTCATCAAC -3'
(R):5'- TCAGAGGAACATTTGGAAAAGATTC -3'

Posted On

2019-06-07