Incidental Mutation 'IGL02183:Magi3'
ID284317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magi3
Ensembl Gene ENSMUSG00000052539
Gene Namemembrane associated guanylate kinase, WW and PDZ domain containing 3
Synonyms4732496O19Rik, 6530407C02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.444) question?
Stock #IGL02183
Quality Score
Status
Chromosome3
Chromosomal Location104013259-104220374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104085347 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,625,378 P480S possibly damaging Het
Ace2 T A X: 164,177,469 probably benign Het
Acsm4 A T 7: 119,693,852 probably null Het
Apcdd1 T C 18: 62,951,854 M374T probably damaging Het
Arid4b A G 13: 14,169,990 E551G possibly damaging Het
Bag4 A T 8: 25,768,030 L423Q probably damaging Het
Celf1 C T 2: 91,001,486 P96S probably damaging Het
Cry2 G A 2: 92,413,039 R486W probably damaging Het
Csn1s1 G A 5: 87,677,618 S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,740 Y1124C probably damaging Het
Cyp2j7 T C 4: 96,230,147 probably benign Het
Dock7 A T 4: 98,958,991 C1695S possibly damaging Het
Elmo3 T C 8: 105,308,323 L415P probably benign Het
Entpd5 A G 12: 84,380,380 probably benign Het
Gm7534 A G 4: 134,201,980 L338S probably benign Het
Gpatch11 T C 17: 78,842,231 probably null Het
Gprin3 C A 6: 59,353,162 R720I possibly damaging Het
Gria4 T G 9: 4,502,460 T358P probably damaging Het
Hcn2 T C 10: 79,724,813 probably null Het
Hivep3 A G 4: 120,132,024 T1891A probably benign Het
Hmgcr A G 13: 96,663,127 V153A probably damaging Het
Ifnar1 T C 16: 91,505,146 V503A possibly damaging Het
Igf2r G A 17: 12,698,516 probably benign Het
Ighg2b A G 12: 113,307,829 S35P unknown Het
Jmy T C 13: 93,499,242 D22G possibly damaging Het
Kdm5b T C 1: 134,624,931 I1215T probably benign Het
Krt84 T C 15: 101,532,356 I134V unknown Het
Maneal G A 4: 124,860,416 T198I probably benign Het
Map7d3 A G X: 56,822,231 probably benign Het
Myh7 T A 14: 54,974,731 T1519S probably benign Het
Myo5a T C 9: 75,167,236 probably benign Het
Naip5 T C 13: 100,221,642 S1029G probably benign Het
Olfr1162 T C 2: 88,049,989 T212A possibly damaging Het
Olfr1205 A T 2: 88,832,028 I304F probably benign Het
Olfr125 G T 17: 37,835,413 C138F probably damaging Het
Olfr1279 T A 2: 111,306,418 V71E probably damaging Het
Olfr178 T A 16: 58,889,821 Q133L probably benign Het
Pald1 A T 10: 61,347,141 probably benign Het
Pan2 T A 10: 128,309,075 H230Q possibly damaging Het
Pcdh9 T C 14: 93,886,284 I817V probably benign Het
Piezo2 A G 18: 63,020,634 S2547P probably benign Het
Ppargc1b T A 18: 61,309,096 probably null Het
Prdm6 T C 18: 53,464,677 probably benign Het
Prr5l A T 2: 101,772,120 probably benign Het
Rab3gap2 T A 1: 185,271,468 L1020* probably null Het
Rhbdf1 T C 11: 32,210,543 H669R probably damaging Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rnf17 T A 14: 56,507,868 D1360E probably null Het
Sag T C 1: 87,828,475 probably null Het
Scn2a C T 2: 65,671,603 T90I probably benign Het
Scn9a T A 2: 66,484,611 probably benign Het
Serpinb13 T C 1: 106,998,910 M212T probably damaging Het
Slc39a14 C T 14: 70,306,685 G484E possibly damaging Het
Slco1a1 A T 6: 141,921,943 probably benign Het
Slitrk3 A T 3: 73,049,979 Y487N probably damaging Het
Stkld1 T C 2: 26,946,659 M279T probably benign Het
Tmem161b T C 13: 84,272,254 Y125H probably damaging Het
Tmem71 A G 15: 66,555,025 probably benign Het
Ubxn7 T C 16: 32,369,383 F142L probably damaging Het
Vmn2r22 A G 6: 123,638,004 L209P probably damaging Het
Wdr73 A T 7: 80,893,760 W136R probably damaging Het
Wif1 C T 10: 121,075,276 R107C probably damaging Het
Ythdf2 G T 4: 132,205,574 L92M probably benign Het
Zfp53 T A 17: 21,500,250 I34N possibly damaging Het
Other mutations in Magi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Magi3 APN 3 104014978 missense probably damaging 1.00
IGL00933:Magi3 APN 3 104015847 missense probably benign
IGL01151:Magi3 APN 3 104051374 missense probably damaging 1.00
IGL01674:Magi3 APN 3 104105721 splice site probably benign
IGL01790:Magi3 APN 3 104085244 missense probably damaging 1.00
IGL01903:Magi3 APN 3 104051210 missense possibly damaging 0.87
IGL01939:Magi3 APN 3 104054462 missense probably damaging 0.99
IGL02142:Magi3 APN 3 104015903 missense probably benign 0.32
IGL02887:Magi3 APN 3 104095157 missense probably damaging 1.00
IGL03071:Magi3 APN 3 104015886 missense possibly damaging 0.51
IGL03085:Magi3 APN 3 104015339 missense possibly damaging 0.88
IGL03192:Magi3 APN 3 104043246 missense probably damaging 1.00
IGL03204:Magi3 APN 3 104105835 missense probably damaging 1.00
IGL03227:Magi3 APN 3 104051119 missense probably benign
IGL03388:Magi3 APN 3 104015841 missense probably benign 0.30
PIT4280001:Magi3 UTSW 3 104054352 missense probably damaging 1.00
PIT4504001:Magi3 UTSW 3 104015526 missense probably benign 0.05
R0092:Magi3 UTSW 3 104050964 nonsense probably null
R0514:Magi3 UTSW 3 104015022 missense probably damaging 1.00
R0569:Magi3 UTSW 3 104016042 missense probably benign 0.43
R0608:Magi3 UTSW 3 104017557 missense probably damaging 1.00
R0920:Magi3 UTSW 3 104034191 splice site probably null
R1173:Magi3 UTSW 3 104061630 critical splice donor site probably null
R1256:Magi3 UTSW 3 104027810 missense probably benign 0.08
R1391:Magi3 UTSW 3 104015058 nonsense probably null
R1559:Magi3 UTSW 3 104046853 splice site probably benign
R1568:Magi3 UTSW 3 104089527 missense probably benign 0.02
R1631:Magi3 UTSW 3 104051177 missense probably benign 0.05
R1747:Magi3 UTSW 3 104034173 missense possibly damaging 0.82
R1930:Magi3 UTSW 3 104089604 missense probably damaging 1.00
R1964:Magi3 UTSW 3 104020402 missense probably damaging 0.99
R2151:Magi3 UTSW 3 104046882 missense probably damaging 1.00
R2151:Magi3 UTSW 3 104085238 missense probably damaging 1.00
R2266:Magi3 UTSW 3 104021066 intron probably benign
R2267:Magi3 UTSW 3 104021066 intron probably benign
R2268:Magi3 UTSW 3 104021066 intron probably benign
R2519:Magi3 UTSW 3 104015765 missense probably benign 0.00
R3104:Magi3 UTSW 3 104051320 missense probably damaging 0.99
R3105:Magi3 UTSW 3 104051320 missense probably damaging 0.99
R3619:Magi3 UTSW 3 104054405 missense probably damaging 1.00
R4158:Magi3 UTSW 3 104050961 missense probably damaging 1.00
R4160:Magi3 UTSW 3 104050961 missense probably damaging 1.00
R4284:Magi3 UTSW 3 104015868 nonsense probably null
R4285:Magi3 UTSW 3 104015868 nonsense probably null
R4397:Magi3 UTSW 3 104219714 missense probably damaging 1.00
R4512:Magi3 UTSW 3 104089555 missense probably damaging 0.99
R4676:Magi3 UTSW 3 104015825 missense probably benign
R4758:Magi3 UTSW 3 104015321 missense probably benign 0.01
R4940:Magi3 UTSW 3 104051392 missense probably damaging 1.00
R5039:Magi3 UTSW 3 104105791 missense probably damaging 1.00
R5160:Magi3 UTSW 3 104027908 missense possibly damaging 0.46
R5422:Magi3 UTSW 3 104051368 missense probably damaging 1.00
R5509:Magi3 UTSW 3 104015502 missense probably benign 0.00
R5839:Magi3 UTSW 3 104219731 missense probably damaging 1.00
R5924:Magi3 UTSW 3 104054538 splice site probably null
R6018:Magi3 UTSW 3 104105812 missense probably damaging 1.00
R6189:Magi3 UTSW 3 104050865 missense probably damaging 1.00
R6235:Magi3 UTSW 3 104016068 missense probably damaging 0.99
R6244:Magi3 UTSW 3 104015697 missense probably benign 0.16
R6258:Magi3 UTSW 3 104089596 missense probably damaging 1.00
R6358:Magi3 UTSW 3 104050952 missense probably damaging 1.00
R6534:Magi3 UTSW 3 104085220 missense possibly damaging 0.75
R6806:Magi3 UTSW 3 104046969 missense possibly damaging 0.94
R6816:Magi3 UTSW 3 104089911 intron probably null
R6897:Magi3 UTSW 3 104089557 missense probably damaging 1.00
R7011:Magi3 UTSW 3 104105754 missense probably damaging 1.00
R7039:Magi3 UTSW 3 104051383 missense probably damaging 1.00
R7196:Magi3 UTSW 3 104049168 missense probably benign 0.01
R7237:Magi3 UTSW 3 104027911 missense probably damaging 1.00
R7285:Magi3 UTSW 3 104034114 missense probably benign 0.00
R7709:Magi3 UTSW 3 104034038 missense probably damaging 1.00
R7724:Magi3 UTSW 3 104015927 missense probably benign 0.04
R7797:Magi3 UTSW 3 104051302 missense probably damaging 1.00
X0026:Magi3 UTSW 3 104020420 missense probably benign 0.00
Posted On2015-04-16