Incidental Mutation 'R9432:Magi1'
ID 713013
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R9432 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93660058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1179 (I1179T)
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 damaging
Transcript: ENSMUST00000055224
AA Change: I1082T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: I1082T

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 damaging
Transcript: ENSMUST00000089317
AA Change: I1179T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: I1179T

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: I963T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: I963T

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 damaging
Transcript: ENSMUST00000203519
AA Change: I1094T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: I1094T

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 damaging
Transcript: ENSMUST00000203688
AA Change: I963T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: I963T

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 damaging
Transcript: ENSMUST00000204347
AA Change: I1191T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: I1191T

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
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,917 (GRCm39) R314G unknown Het
Abca13 G A 11: 9,244,559 (GRCm39) V2141M probably benign Het
Abcc10 G A 17: 46,634,710 (GRCm39) A431V possibly damaging Het
Acod1 A G 14: 103,292,414 (GRCm39) R313G probably damaging Het
Adam3 G T 8: 25,193,928 (GRCm39) S361R probably damaging Het
Ahcyl2 C T 6: 29,768,874 (GRCm39) T113M possibly damaging Het
Ano8 C A 8: 71,933,561 (GRCm39) R577L unknown Het
Arhgef7 T A 8: 11,869,646 (GRCm39) S653R probably damaging Het
Atp10a G A 7: 58,469,418 (GRCm39) V1090I possibly damaging Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
C3 G A 17: 57,530,950 (GRCm39) P384S probably damaging Het
Camkk1 A T 11: 72,928,757 (GRCm39) E432V probably damaging Het
Celsr3 T A 9: 108,726,032 (GRCm39) V3087D probably benign Het
Ckap4 A G 10: 84,363,543 (GRCm39) S507P probably damaging Het
Coq6 G A 12: 84,420,464 (GRCm39) M471I probably benign Het
Csmd2 C A 4: 128,171,004 (GRCm39) H332Q Het
Cxcr1 T A 1: 74,231,231 (GRCm39) N264Y probably damaging Het
Dchs2 C A 3: 83,036,032 (GRCm39) R260S possibly damaging Het
Elmod2 C A 8: 84,057,761 (GRCm39) A41S possibly damaging Het
Emilin2 G A 17: 71,581,781 (GRCm39) T315I probably benign Het
Eml1 A G 12: 108,482,842 (GRCm39) N487S probably benign Het
Epn1 G T 7: 5,096,369 (GRCm39) R221L probably benign Het
Faah A G 4: 115,874,772 (GRCm39) V28A probably benign Het
Fbl G A 7: 27,876,689 (GRCm39) R230H probably benign Het
Fsip2 C T 2: 82,805,907 (GRCm39) S742F probably damaging Het
Gm5460 A G 14: 33,767,769 (GRCm39) D184G possibly damaging Het
Gpatch2l T C 12: 86,307,408 (GRCm39) V262A probably damaging Het
Grin2c A T 11: 115,142,052 (GRCm39) L789* probably null Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hectd4 A G 5: 121,460,864 (GRCm39) T948A probably benign Het
Herc2 G A 7: 55,780,932 (GRCm39) G1199D probably damaging Het
Hoxb7 G T 11: 96,177,617 (GRCm39) A22S possibly damaging Het
Ifih1 T A 2: 62,439,618 (GRCm39) I519F probably damaging Het
Ifit1bl1 T A 19: 34,571,498 (GRCm39) I320F possibly damaging Het
Iqgap2 T C 13: 95,774,261 (GRCm39) T1320A probably benign Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Kat6b A C 14: 21,672,077 (GRCm39) H329P probably damaging Het
Klhl29 A G 12: 5,260,056 (GRCm39) L54P probably benign Het
Kntc1 A T 5: 123,925,112 (GRCm39) I1142F possibly damaging Het
Lipo3 A G 19: 33,533,864 (GRCm39) Y323H probably damaging Het
Lmtk3 G A 7: 45,441,994 (GRCm39) V351I probably damaging Het
Lrrc8b T C 5: 105,633,888 (GRCm39) S787P probably benign Het
Mapk11 T C 15: 89,028,631 (GRCm39) D269G probably benign Het
Mfsd13a T G 19: 46,354,868 (GRCm39) I15R probably benign Het
Myo1h G A 5: 114,499,366 (GRCm39) V143I possibly damaging Het
Naaladl1 T C 19: 6,156,917 (GRCm39) I187T possibly damaging Het
Nos1 G A 5: 118,034,871 (GRCm39) V416M probably damaging Het
Or14a256 G A 7: 86,265,065 (GRCm39) R263C possibly damaging Het
Or14j8 A G 17: 38,263,559 (GRCm39) S119P probably damaging Het
Or8k30 T G 2: 86,338,914 (GRCm39) I37S probably benign Het
Pcdh15 A G 10: 74,460,170 (GRCm39) T1373A probably damaging Het
Pcdh18 T G 3: 49,699,667 (GRCm39) M932L probably damaging Het
Pcdhb15 T A 18: 37,608,683 (GRCm39) H638Q probably benign Het
Pcdhb19 A G 18: 37,630,628 (GRCm39) E141G possibly damaging Het
Pds5b T G 5: 150,693,256 (GRCm39) L656R probably damaging Het
Plcl1 T C 1: 55,445,587 (GRCm39) L14P probably benign Het
Pzp A T 6: 128,499,128 (GRCm39) I173N Het
Rnf123 C T 9: 107,937,008 (GRCm39) R849H probably damaging Het
Sfrp5 T C 19: 42,188,225 (GRCm39) D198G probably damaging Het
Sftpb G C 6: 72,283,843 (GRCm39) A147P probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc30a6 A G 17: 74,719,699 (GRCm39) T220A possibly damaging Het
Slc5a3 T A 16: 91,874,615 (GRCm39) V224D probably benign Het
Smad5 T A 13: 56,875,417 (GRCm39) Y202N probably benign Het
Smok2b A G 17: 13,453,881 (GRCm39) I14V probably damaging Het
Tas2r108 T A 6: 40,471,121 (GRCm39) I199K probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tfg G A 16: 56,524,868 (GRCm39) R113* probably null Het
Tubb4a A T 17: 57,388,034 (GRCm39) L331I probably benign Het
Ugt2b37 A G 5: 87,402,046 (GRCm39) V195A probably damaging Het
Umad1 A G 6: 8,401,096 (GRCm39) H55R unknown Het
Vmn1r176 A T 7: 23,534,743 (GRCm39) Y137N probably damaging Het
Vmn1r44 T A 6: 89,870,473 (GRCm39) M73K possibly damaging Het
Vmn2r112 A G 17: 22,821,233 (GRCm39) T69A Het
Vmn2r59 A T 7: 41,696,254 (GRCm39) Y163N probably damaging Het
Vps13c T A 9: 67,830,137 (GRCm39) D1514E probably benign Het
Vsir A G 10: 60,193,732 (GRCm39) D65G possibly damaging Het
Ypel3 A T 7: 126,379,262 (GRCm39) M112L probably benign Het
Zfp26 T A 9: 20,347,830 (GRCm39) K911N probably damaging Het
Zfp362 C T 4: 128,670,980 (GRCm39) R346Q probably damaging Het
Zfp595 A T 13: 67,465,407 (GRCm39) Y288* probably null Het
Zfyve28 G T 5: 34,400,633 (GRCm39) Q22K possibly damaging Het
Zswim4 T G 8: 84,963,539 (GRCm39) D32A probably 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
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
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'- AGGCTGGTAAGACACTGGTG -3'
(R):5'- TCTCATGGCTCCATCCTGAG -3'

Sequencing Primer
(F):5'- CTCTGGAGACAAGCTCATGGAGTC -3'
(R):5'- TCCATCCTGAGCAGTAGGAG -3'
Posted On 2022-05-16