Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Magi1'

514242

Institutional Source

Beutler Lab

Gene Symbol

Magi1

Ensembl Gene

ENSMUSG00000045095

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 1

Synonyms

Baiap1, Gukmi1, AIP3, BAP1, WWP3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R6351 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

93652436-94260898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93920210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 135 (D135E)

Ref Sequence

ENSEMBL: ENSMUSP00000145244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000203519] [ENSMUST00000204347]

AlphaFold

Q6RHR9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055224
AA Change: D135E

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: D135E

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	348	380	2.88e-9	SMART
low complexity region	390	402	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
PDZ	460	536	3.71e-18	SMART
PDZ	631	703	4.68e-15	SMART
low complexity region	707	714	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
PDZ	800	876	4.64e-19	SMART
low complexity region	920	942	N/A	INTRINSIC
PDB:1UEW\|A	945	977	2e-6	PDB
PDZ	1043	1117	1.26e-20	SMART
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089317
AA Change: D135E

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: D135E

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1074	6.1e-25	SMART
PDZ	1140	1214	6.1e-23	SMART
low complexity region	1347	1357	N/A	INTRINSIC
low complexity region	1366	1423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203519
AA Change: D135E

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: D135E

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	360	392	2.88e-9	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	3.71e-18	SMART
PDZ	643	715	4.68e-15	SMART
low complexity region	719	726	N/A	INTRINSIC
low complexity region	732	745	N/A	INTRINSIC
PDZ	812	888	4.64e-19	SMART
low complexity region	932	954	N/A	INTRINSIC
PDB:1UEW\|A	957	989	2e-6	PDB
PDZ	1055	1115	1.13e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204347
AA Change: D135E

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: D135E

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1086	1.1e-25	SMART
PDZ	1152	1226	6.1e-23	SMART
low complexity region	1261	1273	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(165) : Targeted(2) Gene trapped(163)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	Het

Other mutations in Magi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Magi1	APN	6	94,260,074 (GRCm39)	missense	possibly damaging	0.86
IGL01457:Magi1	APN	6	93,724,205 (GRCm39)	missense	probably damaging	0.99
IGL01642:Magi1	APN	6	93,663,605 (GRCm39)	missense	possibly damaging	0.69
IGL01724:Magi1	APN	6	93,769,381 (GRCm39)	splice site	probably null
IGL01967:Magi1	APN	6	93,685,115 (GRCm39)	missense	probably damaging	1.00
IGL01984:Magi1	APN	6	93,685,155 (GRCm39)	missense	probably damaging	1.00
IGL02074:Magi1	APN	6	93,722,579 (GRCm39)	missense	probably damaging	1.00
IGL02098:Magi1	APN	6	93,655,768 (GRCm39)	missense	probably damaging	1.00
IGL02225:Magi1	APN	6	93,671,007 (GRCm39)	missense	probably damaging	1.00
IGL02522:Magi1	APN	6	93,655,617 (GRCm39)	missense	possibly damaging	0.89
IGL02659:Magi1	APN	6	93,762,591 (GRCm39)	missense	possibly damaging	0.68
IGL02900:Magi1	APN	6	93,663,854 (GRCm39)	missense	probably damaging	1.00
P0007:Magi1	UTSW	6	93,722,969 (GRCm39)	missense	probably damaging	1.00
R0149:Magi1	UTSW	6	93,724,226 (GRCm39)	missense	probably damaging	1.00
R0512:Magi1	UTSW	6	93,671,045 (GRCm39)	missense	probably damaging	1.00
R1487:Magi1	UTSW	6	93,685,060 (GRCm39)	missense	probably benign	0.00
R1497:Magi1	UTSW	6	93,724,310 (GRCm39)	missense	probably damaging	1.00
R1502:Magi1	UTSW	6	93,671,151 (GRCm39)	missense	probably damaging	1.00
R1824:Magi1	UTSW	6	93,676,620 (GRCm39)	missense	possibly damaging	0.94
R2042:Magi1	UTSW	6	93,732,026 (GRCm39)	missense	probably benign
R2132:Magi1	UTSW	6	93,674,255 (GRCm39)	missense	probably damaging	0.99
R2331:Magi1	UTSW	6	93,662,543 (GRCm39)	missense	probably damaging	1.00
R2418:Magi1	UTSW	6	93,722,891 (GRCm39)	missense	probably damaging	1.00
R3076:Magi1	UTSW	6	93,734,668 (GRCm39)	missense	possibly damaging	0.63
R3551:Magi1	UTSW	6	93,676,610 (GRCm39)	missense	probably damaging	0.98
R4005:Magi1	UTSW	6	93,678,299 (GRCm39)	missense	probably damaging	1.00
R4455:Magi1	UTSW	6	93,762,438 (GRCm39)	missense	probably damaging	1.00
R4670:Magi1	UTSW	6	93,663,624 (GRCm39)	splice site	probably null
R4671:Magi1	UTSW	6	93,657,768 (GRCm39)	critical splice donor site	probably null
R4839:Magi1	UTSW	6	93,671,177 (GRCm39)	missense	probably damaging	1.00
R5132:Magi1	UTSW	6	93,660,072 (GRCm39)	critical splice acceptor site	probably null
R5147:Magi1	UTSW	6	93,724,248 (GRCm39)	missense	probably damaging	1.00
R5525:Magi1	UTSW	6	93,769,354 (GRCm39)	missense	possibly damaging	0.95
R5724:Magi1	UTSW	6	93,722,682 (GRCm39)	missense	probably damaging	1.00
R5724:Magi1	UTSW	6	93,657,852 (GRCm39)	missense	probably benign	0.03
R5846:Magi1	UTSW	6	93,662,584 (GRCm39)	missense	probably damaging	1.00
R5896:Magi1	UTSW	6	93,685,180 (GRCm39)	missense	probably damaging	1.00
R5912:Magi1	UTSW	6	93,685,126 (GRCm39)	missense	possibly damaging	0.95
R6112:Magi1	UTSW	6	93,722,571 (GRCm39)	missense	probably damaging	1.00
R6115:Magi1	UTSW	6	93,685,051 (GRCm39)	missense	possibly damaging	0.64
R6355:Magi1	UTSW	6	94,260,177 (GRCm39)	missense	probably benign	0.06
R6457:Magi1	UTSW	6	93,676,620 (GRCm39)	missense	probably damaging	1.00
R6464:Magi1	UTSW	6	93,676,770 (GRCm39)	missense	probably damaging	1.00
R6613:Magi1	UTSW	6	93,722,654 (GRCm39)	missense	probably damaging	1.00
R6661:Magi1	UTSW	6	93,920,289 (GRCm39)	missense	probably benign	0.08
R6755:Magi1	UTSW	6	93,685,158 (GRCm39)	missense	probably damaging	1.00
R6909:Magi1	UTSW	6	93,674,301 (GRCm39)	missense	probably damaging	1.00
R7180:Magi1	UTSW	6	93,792,731 (GRCm39)	missense	probably benign	0.10
R7224:Magi1	UTSW	6	93,660,070 (GRCm39)	missense	probably benign	0.34
R7447:Magi1	UTSW	6	93,722,562 (GRCm39)	missense	possibly damaging	0.63
R7517:Magi1	UTSW	6	93,685,189 (GRCm39)	missense	probably damaging	0.99
R7537:Magi1	UTSW	6	93,685,091 (GRCm39)	nonsense	probably null
R7549:Magi1	UTSW	6	93,685,095 (GRCm39)	missense	probably benign	0.19
R7566:Magi1	UTSW	6	93,655,308 (GRCm39)	missense	probably benign	0.03
R7805:Magi1	UTSW	6	93,659,927 (GRCm39)	missense	probably benign
R8022:Magi1	UTSW	6	93,674,346 (GRCm39)	missense	probably damaging	1.00
R8290:Magi1	UTSW	6	94,260,066 (GRCm39)	missense	probably damaging	1.00
R8519:Magi1	UTSW	6	93,681,330 (GRCm39)	missense	possibly damaging	0.83
R8762:Magi1	UTSW	6	93,792,789 (GRCm39)	nonsense	probably null
R8894:Magi1	UTSW	6	93,663,586 (GRCm39)	missense	probably benign	0.12
R8974:Magi1	UTSW	6	93,674,223 (GRCm39)	missense	probably damaging	1.00
R9225:Magi1	UTSW	6	93,762,511 (GRCm39)	missense	possibly damaging	0.64
R9277:Magi1	UTSW	6	93,920,234 (GRCm39)	missense	possibly damaging	0.48
R9300:Magi1	UTSW	6	93,724,209 (GRCm39)	missense	probably damaging	1.00
R9393:Magi1	UTSW	6	93,659,890 (GRCm39)	missense	probably benign	0.27
R9402:Magi1	UTSW	6	94,260,278 (GRCm39)	missense	probably benign	0.00
R9432:Magi1	UTSW	6	93,660,058 (GRCm39)	missense	probably damaging	1.00
R9567:Magi1	UTSW	6	93,659,931 (GRCm39)	critical splice donor site	probably null
R9567:Magi1	UTSW	6	93,655,431 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTGCTGCCGTGGCTAAG -3'
(R):5'- GTGGTGGCCAAGAATCTGTG -3'

Sequencing Primer
(F):5'- GTGGCTAAGAACCTTCAGCCTTG -3'
(R):5'- CCAAGAATCTGTGTGTGGGC -3'

Posted On

2018-04-27