Mutagenetix > Incidental Mutation

Incidental Mutation 'R7797:Magi3'

600266

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

045853-MU

Accession Numbers

Essential gene?

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

Stock #

R7797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103958618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 489 (V489A)

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 damaging
Transcript: ENSMUST00000064371
AA Change: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067932
Gene: ENSMUSG00000052539
AA Change: V489A

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 damaging
Transcript: ENSMUST00000121198
AA Change: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: V489A

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 damaging
Transcript: ENSMUST00000122303
AA Change: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113713
Gene: ENSMUSG00000052539
AA Change: V489A

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

0.5622

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,862,509 (GRCm39)		probably null	Het
Adam3	T	G	8: 25,184,660 (GRCm39)	N535T	probably damaging	Het
Adam34l	T	A	8: 44,079,411 (GRCm39)	E271V	probably benign	Het
Adamts4	A	G	1: 171,085,387 (GRCm39)	K679E	probably damaging	Het
Arnt	G	A	3: 95,387,572 (GRCm39)		probably null	Het
Asah2	A	G	19: 31,999,761 (GRCm39)	F321L	probably damaging	Het
Asb15	T	C	6: 24,562,505 (GRCm39)	S156P	probably damaging	Het
Baiap2l1	A	C	5: 144,255,760 (GRCm39)	S65A	probably damaging	Het
Bend7	T	G	2: 4,754,455 (GRCm39)	M186R	probably damaging	Het
Blnk	T	C	19: 40,948,232 (GRCm39)	K146E	possibly damaging	Het
Cd19	A	G	7: 126,012,680 (GRCm39)	W238R	probably damaging	Het
Cd44	T	A	2: 102,679,079 (GRCm39)	N241I	probably benign	Het
Cdh23	T	C	10: 60,220,973 (GRCm39)	E1257G	probably benign	Het
Cfap300	G	T	9: 8,027,130 (GRCm39)	P136Q	possibly damaging	Het
Cntnap5c	T	C	17: 58,666,270 (GRCm39)	V1100A	probably benign	Het
Cul7	T	C	17: 46,969,568 (GRCm39)	V945A	possibly damaging	Het
Dock2	C	T	11: 34,232,652 (GRCm39)	C1116Y	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Grhl3	C	G	4: 135,286,416 (GRCm39)	K88N	possibly damaging	Het
Hbb-y	T	A	7: 103,501,088 (GRCm39)	Y146F	probably damaging	Het
Hivep2	T	C	10: 14,005,847 (GRCm39)	V815A	probably benign	Het
Hoxa7	T	A	6: 52,192,870 (GRCm39)	I173F	probably damaging	Het
Igkv1-110	T	G	6: 68,247,977 (GRCm39)	S29A	probably benign	Het
Jade2	A	G	11: 51,708,126 (GRCm39)	S696P	probably benign	Het
Kif1b	T	A	4: 149,321,844 (GRCm39)	Q1025L	probably benign	Het
Kif2c	A	T	4: 117,028,940 (GRCm39)	C241S	probably benign	Het
Kmt2d	G	T	15: 98,762,287 (GRCm39)	H400N	probably benign	Het
Krt35	T	A	11: 99,985,713 (GRCm39)	N174Y	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Mapk7	T	C	11: 61,380,241 (GRCm39)	E739G	possibly damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdga1	C	T	17: 30,061,814 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,022 (GRCm39)	R607H	probably damaging	Het
Met	T	A	6: 17,533,952 (GRCm39)	N634K	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mmp11	G	T	10: 75,759,314 (GRCm39)	T107K		Het
Mroh2b	A	C	15: 4,978,587 (GRCm39)	N1378H	probably benign	Het
Naa15	G	A	3: 51,356,031 (GRCm39)	C322Y	probably damaging	Het
Naip1	T	A	13: 100,580,986 (GRCm39)	Y87F	probably damaging	Het
Ngrn	A	G	7: 79,914,185 (GRCm39)	D112G	probably benign	Het
Osbpl1a	C	A	18: 13,015,321 (GRCm39)	C369F	probably damaging	Het
Pcnx2	G	C	8: 126,512,087 (GRCm39)	D1406E	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,664 (GRCm39)	D46G	probably damaging	Het
Pold1	G	A	7: 44,191,213 (GRCm39)	P206L	probably benign	Het
Psen1	A	G	12: 83,746,396 (GRCm39)	S20G	probably benign	Het
Ptpn23	C	T	9: 110,222,875 (GRCm39)	D61N	possibly damaging	Het
Rbfox3	A	T	11: 118,387,310 (GRCm39)	L268Q	possibly damaging	Het
Rbm22	A	G	18: 60,694,344 (GRCm39)	T26A	probably damaging	Het
Rpgrip1	G	A	14: 52,371,277 (GRCm39)	R332Q	possibly damaging	Het
Rrm2b	A	T	15: 37,927,505 (GRCm39)	L347*	probably null	Het
Rsf1	A	T	7: 97,310,692 (GRCm39)	D474V		Het
Ryr2	C	T	13: 11,816,066 (GRCm39)	R640Q	probably damaging	Het
Sec16b	A	G	1: 157,389,245 (GRCm39)	E691G	unknown	Het
Septin1	A	T	7: 126,813,937 (GRCm39)	V365E	unknown	Het
Tlk2	A	G	11: 105,101,444 (GRCm39)	H114R	probably benign	Het
Tmem200a	A	G	10: 25,869,864 (GRCm39)	I135T	possibly damaging	Het
Tpst2	T	A	5: 112,455,782 (GRCm39)	V107E	probably damaging	Het
Trim30a	A	T	7: 104,060,407 (GRCm39)	D456E	possibly damaging	Het
Ttll3	T	C	6: 113,371,738 (GRCm39)	V45A	possibly damaging	Het
Ulk2	A	G	11: 61,672,928 (GRCm39)	Y889H	probably benign	Het
Umodl1	A	G	17: 31,178,125 (GRCm39)	S34G	probably benign	Het
Vmn1r67	A	G	7: 10,180,903 (GRCm39)	I56V	probably benign	Het
Vmn2r120	C	T	17: 57,815,874 (GRCm39)	G827E	probably damaging	Het
Zc3h6	T	C	2: 128,857,555 (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
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
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'- CTCTGCTCACTTGACTCAGATG -3'
(R):5'- TTCCCTTTTCCCCAACAGAAAG -3'

Sequencing Primer
(F):5'- CGATCACTGGCCAAGATTTG -3'
(R):5'- CCCCAACAGAAAGATTAACTTGTTTG -3'

Posted On

2019-11-26