Incidental Mutation 'R1502:Magi1'
ID 169351
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 039552-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R1502 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93671151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 805 (I805F)
Ref Sequence ENSEMBL: ENSMUSP00000145515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]
AlphaFold Q6RHR9
Predicted Effect probably benign
Transcript: ENSMUST00000055224
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095

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 possibly damaging
Transcript: ENSMUST00000089317
AA Change: I1021F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: I1021F

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 possibly damaging
Transcript: ENSMUST00000093769
AA Change: I805F

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: I805F

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
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095

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: I805F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: I805F

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: I1033F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: I1033F

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T G 11: 109,865,471 (GRCm39) T329P probably damaging Het
Adamts4 C A 1: 171,086,559 (GRCm39) P784T probably damaging Het
Adamts6 T C 13: 104,630,145 (GRCm39) L1096P probably damaging Het
Ap1b1 A G 11: 4,990,290 (GRCm39) S849G probably benign Het
Arap2 T C 5: 62,761,747 (GRCm39) S1660G probably benign Het
Atp10b A C 11: 43,121,174 (GRCm39) T946P probably damaging Het
Brpf1 A G 6: 113,299,381 (GRCm39) D1103G probably damaging Het
Bub1 A G 2: 127,669,339 (GRCm39) Y102H probably damaging Het
Ccdc182 A G 11: 88,185,193 (GRCm39) E91G probably benign Het
Cd200r4 C T 16: 44,653,803 (GRCm39) T154M probably damaging Het
Cdh20 A G 1: 104,881,755 (GRCm39) T407A probably benign Het
Col6a2 T C 10: 76,450,512 (GRCm39) I140V probably benign Het
Csn3 C A 5: 88,077,983 (GRCm39) T163K probably damaging Het
Dars2 A T 1: 160,874,375 (GRCm39) L438* probably null Het
Dbr1 T C 9: 99,464,440 (GRCm39) L289P probably damaging Het
Ddx46 A G 13: 55,811,122 (GRCm39) R573G possibly damaging Het
Defb10 T C 8: 22,348,972 (GRCm39) I10T possibly damaging Het
Dis3l T C 9: 64,233,069 (GRCm39) E136G possibly damaging Het
Dnajb13 T C 7: 100,156,668 (GRCm39) Q136R probably benign Het
Dse A T 10: 34,029,214 (GRCm39) S625R probably damaging Het
Dvl3 A G 16: 20,342,209 (GRCm39) D94G probably damaging Het
Dynlt2a2 A G 17: 15,187,876 (GRCm39) F133L probably benign Het
E130311K13Rik A C 3: 63,822,968 (GRCm39) Y225* probably null Het
Etnppl A G 3: 130,422,438 (GRCm39) I222V probably benign Het
Evc2 T C 5: 37,550,440 (GRCm39) L818P probably benign Het
Fbn1 A T 2: 125,205,626 (GRCm39) C1083* probably null Het
Flnc G A 6: 29,438,693 (GRCm39) V196I probably benign Het
Fscn3 A G 6: 28,435,622 (GRCm39) D415G probably benign Het
Gm4861 A C 3: 137,256,381 (GRCm39) V75G probably damaging Het
Gpld1 A T 13: 25,155,399 (GRCm39) T345S probably benign Het
Grik4 T C 9: 42,432,169 (GRCm39) S943G probably damaging Het
Grik4 C T 9: 42,502,743 (GRCm39) R460Q probably benign Het
Ifi207 A C 1: 173,556,872 (GRCm39) L629R possibly damaging Het
Ift52 G A 2: 162,871,782 (GRCm39) probably null Het
Insl3 A G 8: 72,142,876 (GRCm39) D79G probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Lag3 T C 6: 124,886,206 (GRCm39) Y249C probably damaging Het
Lipe T C 7: 25,097,572 (GRCm39) N124D possibly damaging Het
Lnpep A G 17: 17,791,906 (GRCm39) Y412H probably damaging Het
Lrtm2 A G 6: 119,294,235 (GRCm39) Y299H probably benign Het
Lypd4 T C 7: 24,566,253 (GRCm39) T24A probably benign Het
Mfap3 T C 11: 57,418,975 (GRCm39) L45P probably benign Het
Nbea G A 3: 55,912,310 (GRCm39) P1159L probably benign Het
Ndst4 A T 3: 125,231,407 (GRCm39) probably benign Het
Notch1 A T 2: 26,374,335 (GRCm39) N229K possibly damaging Het
Nova1 A G 12: 46,767,615 (GRCm39) I102T unknown Het
Npepps T C 11: 97,109,401 (GRCm39) E725G possibly damaging Het
Or11g27 A T 14: 50,771,234 (GRCm39) M122L possibly damaging Het
Or13a1 T C 6: 116,471,242 (GRCm39) I224T probably damaging Het
Or5l14 T C 2: 87,792,379 (GRCm39) N286D probably damaging Het
Or6c69c T C 10: 129,910,741 (GRCm39) I154T probably damaging Het
Pappa2 A T 1: 158,784,858 (GRCm39) W51R probably damaging Het
Pde8a T C 7: 80,942,007 (GRCm39) S149P probably damaging Het
Pgap6 A G 17: 26,339,290 (GRCm39) T535A possibly damaging Het
Phkb T A 8: 86,785,968 (GRCm39) L1052Q possibly damaging Het
Pou5f2 T A 13: 78,173,370 (GRCm39) L104Q probably benign Het
Pramel32 T A 4: 88,546,269 (GRCm39) I358F probably benign Het
Psme2b A T 11: 48,836,576 (GRCm39) W124R probably damaging Het
Ptk2b G A 14: 66,400,529 (GRCm39) S762L possibly damaging Het
Ptprs T C 17: 56,744,992 (GRCm39) N248S probably benign Het
Rgs22 G A 15: 36,080,997 (GRCm39) T705I probably damaging Het
Rnf123 T C 9: 107,945,709 (GRCm39) probably null Het
Sel1l2 A T 2: 140,231,515 (GRCm39) I13N probably damaging Het
Slc39a4 T C 15: 76,500,793 (GRCm39) T57A probably benign Het
Smpdl3a T G 10: 57,685,187 (GRCm39) V319G probably damaging Het
Syt9 T C 7: 107,035,694 (GRCm39) L237P probably damaging Het
Tbc1d16 G T 11: 119,044,830 (GRCm39) A536E probably damaging Het
Tcf20 T C 15: 82,739,777 (GRCm39) D558G probably damaging Het
Tdpoz2 A T 3: 93,559,453 (GRCm39) M173K probably benign Het
Tek A G 4: 94,669,339 (GRCm39) I113M probably damaging Het
Tmem50a A T 4: 134,636,980 (GRCm39) D50E probably benign Het
Trappc11 A T 8: 47,983,862 (GRCm39) V10E possibly damaging Het
Vmn1r172 C T 7: 23,359,681 (GRCm39) R189* probably null Het
Vmn2r63 A T 7: 42,578,015 (GRCm39) D174E possibly damaging Het
Zc3h10 A T 10: 128,380,151 (GRCm39) M402K probably damaging Het
Zfp109 T C 7: 23,927,588 (GRCm39) H615R probably damaging Het
Zfp982 A C 4: 147,597,126 (GRCm39) H161P probably benign Het
Zhx1 A G 15: 57,917,992 (GRCm39) F85L 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
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
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'- ATGCGGAGAGTCACTGTGTTGC -3'
(R):5'- AGAGAAGCTGGGGTTTTGCCATC -3'

Sequencing Primer
(F):5'- CCCGCTTCTTTGATTAGGTTG -3'
(R):5'- CCTTCACTATATTCCCACATAAC -3'
Posted On 2014-04-13