Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Magi3'

713419

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

Accession Numbers

Essential gene?

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

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103920575-104127690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103922473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1415 (A1415T)

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: A1415T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112934
Gene: ENSMUSG00000052539
AA Change: A1415T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gm57859	C	T	11: 113,583,229 (GRCm39)	Q519*	probably null	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Il20ra	C	A	10: 19,618,751 (GRCm39)	H66Q	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Neil1	T	A	9: 57,051,098 (GRCm39)	R294*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2h2c	A	G	17: 37,422,205 (GRCm39)	V223A	probably damaging	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	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
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
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
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'- ATGCCAGTAGTGCCTGTGAC -3'
(R):5'- ATCTGAAGCAGAGTCAGCCAG -3'

Sequencing Primer
(F):5'- AGTGCCTGTGACTTTATTTGCAC -3'
(R):5'- CCAAGTCTCCAGAGAAAAAGAGCAG -3'

Posted On

2022-05-16