Incidental Mutation 'R7180:Magi1'
ID 558904
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
MMRRC Submission 045233-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R7180 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93792731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 169 (D169V)
Ref Sequence ENSEMBL: ENSMUSP00000086730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204167] [ENSMUST00000204347] [ENSMUST00000204532] [ENSMUST00000205116]
AlphaFold Q6RHR9
PDB Structure X-ray crystal structure of MAGI-1 PDZ1 bound to the C-terminal peptide of HPV18 E6 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000055224
AA Change: D169V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: D169V

DomainStartEndE-ValueType
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: D169V

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: D169V

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000093769
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
WW 74 106 9.65e-11 SMART
WW 133 165 2.88e-9 SMART
low complexity region 175 187 N/A INTRINSIC
low complexity region 195 213 N/A INTRINSIC
PDZ 245 321 3.71e-18 SMART
PDZ 416 488 4.68e-15 SMART
low complexity region 492 499 N/A INTRINSIC
low complexity region 505 518 N/A INTRINSIC
PDZ 613 689 4.64e-19 SMART
low complexity region 733 755 N/A INTRINSIC
PDZ 771 858 2.3e-23 SMART
PDZ 924 998 1.26e-20 SMART
low complexity region 1131 1141 N/A INTRINSIC
low complexity region 1150 1207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203519
AA Change: D169V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: D169V

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000203688
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095

DomainStartEndE-ValueType
Pfam:MAGI_u1 1 34 2.9e-17 PFAM
WW 74 106 9.65e-11 SMART
WW 133 165 2.88e-9 SMART
low complexity region 175 187 N/A INTRINSIC
low complexity region 195 213 N/A INTRINSIC
PDZ 245 321 3.71e-18 SMART
PDZ 416 488 4.68e-15 SMART
low complexity region 506 519 N/A INTRINSIC
PDZ 614 690 4.64e-19 SMART
low complexity region 734 756 N/A INTRINSIC
PDZ 772 858 1.74e-23 SMART
PDZ 924 998 1.26e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204167
Predicted Effect possibly damaging
Transcript: ENSMUST00000204347
AA Change: D169V

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: D169V

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000204532
SMART Domains Protein: ENSMUSP00000144769
Gene: ENSMUSG00000045095

DomainStartEndE-ValueType
Pfam:MAGI_u1 1 34 1.8e-14 PFAM
WW 74 106 5.8e-13 SMART
WW 133 165 1.7e-11 SMART
low complexity region 175 187 N/A INTRINSIC
low complexity region 195 213 N/A INTRINSIC
PDZ 245 321 1.9e-20 SMART
PDZ 416 488 7.3e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205116
SMART Domains Protein: ENSMUSP00000145251
Gene: ENSMUSG00000045095

DomainStartEndE-ValueType
Pfam:MAGI_u1 1 34 2.1e-15 PFAM
WW 74 106 5.8e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A C 4: 49,381,803 (GRCm39) Y196* probably null Het
Agrn C T 4: 156,256,296 (GRCm39) R1405H probably benign Het
Agtpbp1 G A 13: 59,613,852 (GRCm39) H1030Y probably benign Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Ap1g2 G C 14: 55,341,908 (GRCm39) P218R probably damaging Het
Ap2a1 C T 7: 44,573,228 (GRCm39) probably null Het
Apc2 T A 10: 80,146,990 (GRCm39) D681E possibly damaging Het
Arhgef5 T A 6: 43,252,142 (GRCm39) N964K possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Ccnf T A 17: 24,442,889 (GRCm39) M773L probably benign Het
Ces1e A C 8: 93,941,772 (GRCm39) S234A probably damaging Het
Ces1g T A 8: 94,029,576 (GRCm39) E552V probably benign Het
Ctcfl A T 2: 172,947,770 (GRCm39) probably null Het
Dkk2 T A 3: 131,791,953 (GRCm39) S54T probably damaging Het
Dll1 A G 17: 15,595,131 (GRCm39) S49P probably benign Het
Dscam C A 16: 96,626,764 (GRCm39) A382S probably damaging Het
Eif4a3l1 T A 6: 136,306,535 (GRCm39) I332N probably damaging Het
Eif5b A T 1: 38,088,155 (GRCm39) M1020L probably damaging Het
Elp1 A T 4: 56,796,535 (GRCm39) S118R probably damaging Het
Enpp4 T C 17: 44,412,928 (GRCm39) D202G probably benign Het
Eps8 A T 6: 137,456,072 (GRCm39) I803N possibly damaging Het
Etv2 C A 7: 30,335,074 (GRCm39) G28V probably damaging Het
Fadd A T 7: 144,134,522 (GRCm39) V121E probably damaging Het
Fam149b T C 14: 20,431,853 (GRCm39) Y545H probably benign Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Flg2 T C 3: 93,110,140 (GRCm39) S723P unknown Het
Gm4884 C T 7: 40,693,633 (GRCm39) T534I possibly damaging Het
Gpbar1 A T 1: 74,317,792 (GRCm39) I12F possibly damaging Het
Gpr151 A T 18: 42,712,021 (GRCm39) L219* probably null Het
Hdgfl2 T A 17: 56,404,532 (GRCm39) probably null Het
Hectd4 A G 5: 121,446,405 (GRCm39) M200V probably benign Het
Idua A G 5: 108,828,761 (GRCm39) N335S probably benign Het
Ifit1bl1 A T 19: 34,571,302 (GRCm39) F385Y probably damaging Het
Ift172 T C 5: 31,411,606 (GRCm39) D1624G probably damaging Het
Igsf9b A T 9: 27,233,964 (GRCm39) T388S possibly damaging Het
Insyn2b A G 11: 34,369,873 (GRCm39) K526E probably damaging Het
Jak2 A G 19: 29,259,811 (GRCm39) I237V probably benign Het
Kat5 C A 19: 5,653,989 (GRCm39) K398N probably damaging Het
Lmbrd2 T A 15: 9,175,283 (GRCm39) V398E possibly damaging Het
Lrp1 T C 10: 127,392,834 (GRCm39) N2744D probably damaging Het
Lrrd1 T C 5: 3,901,459 (GRCm39) I588T probably damaging Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Mpdz T C 4: 81,253,988 (GRCm39) E1048G probably damaging Het
Myh9 T C 15: 77,692,110 (GRCm39) I150V probably benign Het
Nckap1 A T 2: 80,337,236 (GRCm39) M1006K probably benign Het
Nkain1 C T 4: 130,533,925 (GRCm38) V132I probably benign Het
Npy6r A T 18: 44,409,223 (GRCm39) M215L probably benign Het
Nr3c2 A T 8: 77,635,592 (GRCm39) Q231L probably damaging Het
Obox5 C T 7: 15,491,849 (GRCm39) P88L probably benign Het
Or10a48 A G 7: 108,425,186 (GRCm39) S7P probably damaging Het
Or9k7 T C 10: 130,046,811 (GRCm39) T63A probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Pdzd2 T A 15: 12,376,209 (GRCm39) S1309C probably damaging Het
Pex5l C T 3: 33,078,840 (GRCm39) probably null Het
Pip T A 6: 41,824,565 (GRCm39) C18S probably damaging Het
Pla2g7 C T 17: 43,909,967 (GRCm39) T157M probably damaging Het
Plce1 A G 19: 38,768,229 (GRCm39) Y2168C probably damaging Het
Rgs2 T C 1: 143,877,886 (GRCm39) T137A probably benign Het
Rpl32 T A 6: 115,784,768 (GRCm39) I31F possibly damaging Het
Ryr2 T C 13: 11,701,864 (GRCm39) Y2931C probably damaging Het
Slc4a4 G A 5: 89,194,095 (GRCm39) E192K probably damaging Het
Slc4a7 G A 14: 14,765,580 (GRCm38) A521T probably damaging Het
Smchd1 T C 17: 71,701,818 (GRCm39) E1058G probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssc5d A G 7: 4,939,600 (GRCm39) T679A probably benign Het
Tas2r130 A C 6: 131,607,211 (GRCm39) S195A probably benign Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Terf2ip G T 8: 112,738,052 (GRCm39) probably benign Het
Tm6sf2 G A 8: 70,528,656 (GRCm39) R136K probably benign Het
Tmprss15 A G 16: 78,764,886 (GRCm39) L858P probably damaging Het
Topaz1 A G 9: 122,626,770 (GRCm39) D1466G possibly damaging Het
Trip4 A T 9: 65,764,627 (GRCm39) L446Q probably damaging Het
Trpv3 G T 11: 73,168,818 (GRCm39) V93L probably benign Het
Ubl4b A T 3: 107,461,962 (GRCm39) H99Q probably damaging Het
Unc45a A T 7: 79,979,569 (GRCm39) probably null Het
Vmn1r47 G T 6: 89,999,335 (GRCm39) A156S probably damaging Het
Vmn2r33 T A 7: 7,566,896 (GRCm39) H72L probably benign Het
Zeb1 G A 18: 5,767,867 (GRCm39) V793M possibly damaging Het
Zfp628 C A 7: 4,924,063 (GRCm39) Q762K probably benign Het
Other mutations in Magi1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6351:Magi1 UTSW 6 93,920,210 (GRCm39) missense possibly damaging 0.82
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
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'- AGAGAGTCTTCACGCTTTCC -3'
(R):5'- AAGAAGCTGCTTTTCCTGGG -3'

Sequencing Primer
(F):5'- CTATGTCTTATTGGCACGAACC -3'
(R):5'- TTCTAGGCAGGCCAGCTTACAG -3'
Posted On 2019-06-26