Incidental Mutation 'R1824:Magi1'
ID 206667
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 039852-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R1824 (G1)
Quality Score 130
Status Not validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93676620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 913 (V913A)
Ref Sequence ENSEMBL: ENSMUSP00000144881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]
AlphaFold Q6RHR9
Predicted Effect probably benign
Transcript: ENSMUST00000055224
AA Change: V872A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: V872A

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: V913A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: V913A

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: V685A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: V685A

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: V884A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: V884A

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 possibly damaging
Transcript: ENSMUST00000203688
AA Change: V686A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: V686A

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 possibly damaging
Transcript: ENSMUST00000204347
AA Change: V913A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: V913A

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,708,086 (GRCm39) noncoding transcript Het
Aadacl2fm1 C A 3: 59,840,001 (GRCm39) Y24* probably null Het
Abl1 T A 2: 31,690,656 (GRCm39) M706K probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Acd A G 8: 106,427,122 (GRCm39) L96P probably damaging Het
Arsi T A 18: 61,045,369 (GRCm39) W20R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asic3 C T 5: 24,618,749 (GRCm39) Q14* probably null Het
Asxl3 T A 18: 22,655,125 (GRCm39) I1045N probably damaging Het
Atr T C 9: 95,818,474 (GRCm39) I2149T probably damaging Het
Begain A G 12: 108,999,025 (GRCm39) probably null Het
Brca2 C T 5: 150,460,387 (GRCm39) T554I possibly damaging Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
C1s2 C T 6: 124,612,641 (GRCm39) V11I probably benign Het
Cacna1i T C 15: 80,260,990 (GRCm39) F1333L possibly damaging Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cep164 C T 9: 45,690,226 (GRCm39) V1367M probably damaging Het
Cfap46 C A 7: 139,219,518 (GRCm39) A1316S probably benign Het
Cic T C 7: 24,987,691 (GRCm39) S553P probably damaging Het
Cilk1 T A 9: 78,065,144 (GRCm39) D351E probably benign Het
Clcn2 C T 16: 20,534,712 (GRCm39) A12T probably benign Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Coil A G 11: 88,872,923 (GRCm39) N428S possibly damaging Het
Cpxm1 A C 2: 130,237,617 (GRCm39) V196G probably damaging Het
Cr2 A G 1: 194,839,624 (GRCm39) V601A probably damaging Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Dclre1a T C 19: 56,535,150 (GRCm39) probably null Het
Dennd4a G C 9: 64,766,640 (GRCm39) probably null Het
Dlg5 T C 14: 24,199,512 (GRCm39) H1464R probably benign Het
Dmac2 T G 7: 25,324,217 (GRCm39) M225R probably damaging Het
Dnah8 T C 17: 30,950,154 (GRCm39) V1991A possibly damaging Het
Dscam A C 16: 96,626,781 (GRCm39) V376G probably benign Het
Dync1li1 A G 9: 114,538,252 (GRCm39) D203G probably benign Het
Eva1c A G 16: 90,663,331 (GRCm39) T22A probably benign Het
Fam110b A G 4: 5,799,029 (GRCm39) D149G probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Fsip1 T C 2: 118,063,389 (GRCm39) D360G probably damaging Het
Galnt14 T C 17: 74,016,934 (GRCm39) T41A probably benign Het
Gdf3 T A 6: 122,586,921 (GRCm39) Q2L probably benign Het
Glrp1 A G 1: 88,437,511 (GRCm39) probably null Het
Gm3336 C G 8: 71,173,066 (GRCm39) probably null Het
Gm8674 C T 13: 50,054,844 (GRCm39) noncoding transcript Het
Gnat1 A G 9: 107,553,774 (GRCm39) Y226H probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
H1f8 A G 6: 115,925,719 (GRCm39) Y1C probably null Het
Igfbpl1 C A 4: 45,826,406 (GRCm39) A130S probably benign Het
Impdh1 T A 6: 29,205,087 (GRCm39) D261V probably benign Het
Itgal T A 7: 126,913,232 (GRCm39) S610T probably damaging Het
Jcad A G 18: 4,649,293 (GRCm39) T55A probably benign Het
Jup G A 11: 100,264,963 (GRCm39) R663* probably null Het
Kalrn C T 16: 34,114,585 (GRCm39) G556D probably damaging Het
Krt81 T C 15: 101,358,020 (GRCm39) E411G probably damaging Het
Lcat T C 8: 106,666,520 (GRCm39) E334G probably damaging Het
Lhcgr T C 17: 89,057,585 (GRCm39) E302G probably benign Het
Mrpl19 A T 6: 81,941,060 (GRCm39) probably null Het
Muc4 G T 16: 32,576,307 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a G A 2: 22,401,054 (GRCm39) V600I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Ngef A G 1: 87,430,986 (GRCm39) probably null Het
Nisch A T 14: 30,898,389 (GRCm39) probably benign Het
Nlrp4c G A 7: 6,069,955 (GRCm39) probably null Het
Nup153 A T 13: 46,867,223 (GRCm39) S154T probably damaging Het
Obscn A G 11: 58,885,658 (GRCm39) probably benign Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4a74 G T 2: 89,439,693 (GRCm39) P251H probably damaging Het
Or6c219 T C 10: 129,781,206 (GRCm39) M242V possibly damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Phf24 G T 4: 42,934,661 (GRCm39) C136F probably damaging Het
Phldb2 A T 16: 45,646,374 (GRCm39) V65E probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prl8a8 A T 13: 27,692,433 (GRCm39) M186K probably damaging Het
Qars1 T C 9: 108,391,809 (GRCm39) V70A probably damaging Het
Rac1 C T 5: 143,502,980 (GRCm39) V14I probably benign Het
Rapgef5 T A 12: 117,652,419 (GRCm39) probably null Het
Slc16a12 G A 19: 34,648,278 (GRCm39) T405M possibly damaging Het
Slc17a6 A G 7: 51,311,294 (GRCm39) Y336C probably damaging Het
Slc30a9 T C 5: 67,505,395 (GRCm39) L441P probably damaging Het
Slc45a2 T C 15: 11,022,172 (GRCm39) S305P probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Sp1 T G 15: 102,339,438 (GRCm39) S773A possibly damaging Het
Spen C A 4: 141,200,096 (GRCm39) G2821C probably damaging Het
Tagap1 A G 17: 7,223,425 (GRCm39) S424P probably benign Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tfec C T 6: 16,840,467 (GRCm39) probably null Het
Thsd7a A T 6: 12,409,041 (GRCm39) probably null Het
Tnfsf15 C A 4: 63,651,588 (GRCm39) G112V probably benign Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tnxb C T 17: 34,911,307 (GRCm39) R1537* probably null Het
Tpra1 A G 6: 88,888,805 (GRCm39) N329S probably benign Het
Ttc12 A G 9: 49,368,184 (GRCm39) F281S probably damaging Het
Unc79 A G 12: 103,025,579 (GRCm39) N322S probably damaging Het
Unk G T 11: 115,921,268 (GRCm39) probably benign Het
Usp4 G T 9: 108,225,207 (GRCm39) G31W probably damaging Het
Vcan G T 13: 89,853,331 (GRCm39) A543D possibly damaging Het
Vil1 A C 1: 74,457,606 (GRCm39) I80L probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Vpreb1a A G 16: 16,686,935 (GRCm39) probably null Het
Zbtb6 C T 2: 37,319,829 (GRCm39) C33Y probably damaging Het
Zfp330 A T 8: 83,492,644 (GRCm39) C189* probably null Het
Zfp942 T A 17: 22,147,522 (GRCm39) H369L probably damaging Het
Zfp943 T A 17: 22,211,361 (GRCm39) I149K probably benign Het
Zfyve19 G A 2: 119,042,016 (GRCm39) V162M 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
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'- ACATCTGAATGACAGCAGGG -3'
(R):5'- CATGGGCCATCAGTCTTGATAG -3'

Sequencing Primer
(F):5'- GCTGGCGAGAAACAAACCATCTG -3'
(R):5'- GGGCCATCAGTCTTGATAGTAAACC -3'
Posted On 2014-06-23