Incidental Mutation 'R8894:Magi1'
ID 677881
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 068697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R8894 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93663586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 1117 (F1117Y)
Ref Sequence ENSEMBL: ENSMUSP00000086730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]
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: F1020Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: F1020Y

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: F1117Y

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: F1117Y

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 damaging
Transcript: ENSMUST00000093769
AA Change: F901Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: F901Y

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 possibly damaging
Transcript: ENSMUST00000203519
AA Change: F1032Y

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: F1032Y

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
AA Change: F901Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: F901Y

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: ENSMUST00000204347
AA Change: F1129Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: F1129Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,216,397 (GRCm39) V291M probably benign Het
Abca14 A C 7: 119,847,368 (GRCm39) Y744S probably damaging Het
Acly T C 11: 100,407,639 (GRCm39) E237G probably benign Het
Adcy1 T A 11: 7,087,375 (GRCm39) D416E probably damaging Het
Arid1b T A 17: 5,377,668 (GRCm39) M1217K probably damaging Het
Atad2b T C 12: 5,064,001 (GRCm39) probably null Het
Ccdc177 A G 12: 80,806,077 (GRCm39) S66P probably damaging Het
Clpsl2 T C 17: 28,769,645 (GRCm39) C36R possibly damaging Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Crb1 T A 1: 139,175,750 (GRCm39) L744F possibly damaging Het
Crybg3 T A 16: 59,342,552 (GRCm39) E980D probably damaging Het
Cyp2d11 A T 15: 82,274,671 (GRCm39) V302E probably benign Het
Cyp3a25 A C 5: 145,931,670 (GRCm39) probably benign Het
Dhx35 G C 2: 158,676,795 (GRCm39) A410P possibly damaging Het
Dlg2 A T 7: 91,614,946 (GRCm39) H295L probably benign Het
Dnah2 T A 11: 69,383,048 (GRCm39) M1172L probably benign Het
Dock9 T C 14: 121,860,373 (GRCm39) S850G probably benign Het
Dst A T 1: 34,213,214 (GRCm39) M1369L possibly damaging Het
Fcrl6 T C 1: 172,426,856 (GRCm39) N30S probably benign Het
Fibp A T 19: 5,513,309 (GRCm39) Q208L probably benign Het
Foxc1 T G 13: 31,992,205 (GRCm39) S339A unknown Het
Fras1 T C 5: 96,907,402 (GRCm39) C3196R probably damaging Het
Galnt7 C T 8: 57,979,176 (GRCm39) W649* probably null Het
H2-M10.2 T C 17: 36,595,555 (GRCm39) N245S possibly damaging Het
Hapln3 G A 7: 78,767,239 (GRCm39) R267W probably benign Het
Hkdc1 T C 10: 62,244,400 (GRCm39) I229V probably damaging Het
Kank1 G A 19: 25,408,378 (GRCm39) G1286R probably damaging Het
Krba1 A G 6: 48,388,629 (GRCm39) I543V probably damaging Het
Lipn A T 19: 34,062,248 (GRCm39) *401L probably null Het
Lrrc37a T C 11: 103,347,449 (GRCm39) N3082S unknown Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mpp4 A G 1: 59,197,743 (GRCm39) probably null Het
Muc2 T G 7: 141,280,758 (GRCm39) C371W probably damaging Het
Nebl A T 2: 17,380,036 (GRCm39) N779K probably benign Het
Nf1 T C 11: 79,336,619 (GRCm39) L1066P probably damaging Het
Npat T C 9: 53,467,951 (GRCm39) L302P probably damaging Het
Nudt21 C A 8: 94,755,498 (GRCm39) G146W probably damaging Het
Or10al6 T A 17: 38,082,940 (GRCm39) I132K probably damaging Het
Or10g1 A T 14: 52,647,465 (GRCm39) L288Q probably damaging Het
Or4c11c T G 2: 88,661,809 (GRCm39) M116R probably benign Het
Or8c13 A T 9: 38,091,370 (GRCm39) F250I probably damaging Het
Pkd2l2 T C 18: 34,571,273 (GRCm39) probably benign Het
Plcd3 T A 11: 102,962,592 (GRCm39) N620Y probably damaging Het
Ppl T C 16: 4,925,206 (GRCm39) probably benign Het
Pramel41 T G 5: 94,596,399 (GRCm39) C479G probably damaging Het
Prep T C 10: 45,034,620 (GRCm39) *711Q probably null Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Ptprr T A 10: 115,884,250 (GRCm39) D102E probably benign Het
Rgsl1 T A 1: 153,698,119 (GRCm39) probably null Het
Rimbp2 T A 5: 128,850,454 (GRCm39) D943V possibly damaging Het
Rsrc2 G T 5: 123,878,793 (GRCm39) R113S unknown Het
Sim1 T A 10: 50,786,626 (GRCm39) V286E possibly damaging Het
Slc35d1 A T 4: 103,068,529 (GRCm39) F124L Het
Sort1 T C 3: 108,246,228 (GRCm39) F402L probably damaging Het
Spata31f1a A G 4: 42,853,688 (GRCm39) C47R possibly damaging Het
Tlr2 T A 3: 83,744,091 (GRCm39) E664V probably damaging Het
Tmppe A T 9: 114,230,260 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,001,038 (GRCm39) D356G possibly damaging Het
Tnrc18 T C 5: 142,725,212 (GRCm39) E1839G unknown Het
Trgv4 T C 13: 19,369,627 (GRCm39) S124P probably damaging Het
Trim17 T A 11: 58,859,536 (GRCm39) M250K probably benign Het
Trim33 C T 3: 103,218,807 (GRCm39) L315F probably damaging Het
Vmn1r43 A G 6: 89,846,746 (GRCm39) S247P probably benign Het
Vmn2r33 T A 7: 7,566,809 (GRCm39) Y101F probably benign Het
Vmn2r40 T C 7: 8,923,197 (GRCm39) D388G Het
Wdr36 C T 18: 32,970,340 (GRCm39) probably benign Het
Zfp2 T A 11: 50,791,843 (GRCm39) I67F possibly damaging 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
R8762:Magi1 UTSW 6 93,792,789 (GRCm39) nonsense probably null
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'- CTGAGTCTGTGACAGCCTTTC -3'
(R):5'- ACAAGGTCAGAGGTGGCTTG -3'

Sequencing Primer
(F):5'- TTCTTCCCCCTTAGAAAAGAGG -3'
(R):5'- CAGAGGTGGCTTGGGTTC -3'
Posted On 2021-08-02