Incidental Mutation 'R8762:Magi1'
ID 671846
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 068622-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R8762 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 93792789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 150 (R150*)
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 null
Transcript: ENSMUST00000055224
AA Change: R150*
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: R150*

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 null
Transcript: ENSMUST00000089317
AA Change: R150*
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: R150*

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 null
Transcript: ENSMUST00000203519
AA Change: R150*
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: R150*

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 probably null
Transcript: ENSMUST00000204347
AA Change: R150*
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: R150*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A G 11: 101,301,226 (GRCm39) V272A probably benign Het
Acbd6 G A 1: 155,562,706 (GRCm39) E236K probably damaging Het
Actr1b T C 1: 36,748,909 (GRCm39) N9S probably benign Het
Adam17 A T 12: 21,401,595 (GRCm39) D133E probably benign Het
Adam6b G A 12: 113,453,227 (GRCm39) V15M probably damaging Het
Adam9 T A 8: 25,457,235 (GRCm39) N631I probably damaging Het
Albfm1 A G 5: 90,714,461 (GRCm39) N157S probably benign Het
Amy2a1 A T 3: 113,325,276 (GRCm39) probably benign Het
Aplnr A T 2: 84,967,515 (GRCm39) Y180F probably benign Het
Arhgef7 T C 8: 11,831,216 (GRCm39) V105A probably benign Het
Bambi G A 18: 3,511,277 (GRCm39) D33N probably damaging Het
Bicc1 G A 10: 70,779,216 (GRCm39) T724I probably benign Het
Brd2 T A 17: 34,335,934 (GRCm39) Q93L probably damaging Het
Cacnb2 A G 2: 14,972,759 (GRCm39) D222G possibly damaging Het
Cdh1 G T 8: 107,386,336 (GRCm39) D420Y probably damaging Het
Cep162 T C 9: 87,109,314 (GRCm39) S430G probably benign Het
Cfap161 T A 7: 83,443,282 (GRCm39) R27S possibly damaging Het
Chek1 C T 9: 36,629,636 (GRCm39) A237T probably benign Het
Chrna3 T A 9: 54,922,995 (GRCm39) K271M probably damaging Het
Coro7 A C 16: 4,452,203 (GRCm39) V410G probably benign Het
Crmp1 C A 5: 37,441,440 (GRCm39) N507K probably damaging Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Disc1 A G 8: 125,881,796 (GRCm39) D577G probably damaging Het
Dnah6 A G 6: 73,156,811 (GRCm39) Y649H possibly damaging Het
Flywch1 A G 17: 23,975,731 (GRCm39) S504P probably damaging Het
Fpr1 A T 17: 18,097,851 (GRCm39) V46D probably damaging Het
Fpr-rs7 C T 17: 20,333,789 (GRCm39) V234M probably benign Het
Ighv5-16 T C 12: 113,802,288 (GRCm39) N71D probably benign Het
Kash5 G T 7: 44,845,481 (GRCm39) D152E probably damaging Het
Kdm3b A G 18: 34,937,157 (GRCm39) M480V probably benign Het
L3mbtl3 T A 10: 26,152,121 (GRCm39) D825V probably damaging Het
Lef1 T A 3: 130,988,366 (GRCm39) M311K probably damaging Het
Magi3 C T 3: 103,958,169 (GRCm39) V639I probably damaging Het
Mocos A T 18: 24,812,554 (GRCm39) R483W probably damaging Het
Mrps11 G T 7: 78,438,487 (GRCm39) V80F possibly damaging Het
Myh2 A T 11: 67,084,578 (GRCm39) R1706W probably damaging Het
Neurod6 T A 6: 55,656,228 (GRCm39) L136F probably damaging Het
Nfe2l1 A T 11: 96,711,306 (GRCm39) Y308N probably damaging Het
Nptn T A 9: 58,525,905 (GRCm39) probably benign Het
Or1e28-ps1 G T 11: 73,615,307 (GRCm39) T181N unknown Het
Or5g25 A T 2: 85,478,034 (GRCm39) S210R probably damaging Het
Oscar A G 7: 3,613,900 (GRCm39) S227P probably benign Het
Phgdh A C 3: 98,247,024 (GRCm39) I42R possibly damaging Het
Pla2g4a C T 1: 149,761,935 (GRCm39) G174D probably benign Het
Plcd4 A G 1: 74,591,213 (GRCm39) T203A possibly damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Plppr4 A T 3: 117,119,482 (GRCm39) V309D probably damaging Het
Pltp T C 2: 164,686,652 (GRCm39) K324E possibly damaging Het
Pml C T 9: 58,154,348 (GRCm39) R175H probably damaging Het
Psg20 C A 7: 18,408,557 (GRCm39) V388F probably benign Het
Qrfprl T C 6: 65,424,393 (GRCm39) V182A probably benign Het
Rabgef1 A G 5: 130,237,557 (GRCm39) D209G possibly damaging Het
Rif1 A T 2: 52,001,742 (GRCm39) N90I Het
Sec31a T C 5: 100,526,688 (GRCm39) H57R Het
Sidt1 T C 16: 44,152,707 (GRCm39) N62S probably benign Het
Slc18a2 T A 19: 59,261,355 (GRCm39) M172K probably benign Het
Slc34a3 T C 2: 25,121,003 (GRCm39) T362A probably benign Het
Smtn T G 11: 3,476,407 (GRCm39) D158A probably benign Het
Spen C T 4: 141,200,261 (GRCm39) V2789M probably damaging Het
Taf2 A T 15: 54,910,849 (GRCm39) N608K probably benign Het
Tctn3 A G 19: 40,595,636 (GRCm39) V383A unknown Het
Themis3 A T 17: 66,866,676 (GRCm39) M188K probably benign Het
Trpv5 A G 6: 41,652,313 (GRCm39) V124A probably benign Het
Tshr G A 12: 91,504,324 (GRCm39) V421M probably damaging Het
Ttn T A 2: 76,539,426 (GRCm39) D34520V probably benign Het
Ttn A C 2: 76,608,294 (GRCm39) Y17876* probably null Het
Zrsr2-ps1 T C 11: 22,923,694 (GRCm39) L156P 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
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
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'- CCCAGAGTCTAAACGCTCTG -3'
(R):5'- AAAGCTGTCTGTGGATTACCTG -3'

Sequencing Primer
(F):5'- AGAGTCTAAACGCTCTGCCTGG -3'
(R):5'- TGTGGATTACCTGTGTTCCC -3'
Posted On 2021-04-30