Incidental Mutation 'R0512:Magi1'
ID 47897
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 038706-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R0512 (G1)
Quality Score 167
Status Validated
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93671045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1068 (V1068A)
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
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 probably damaging
Transcript: ENSMUST00000089317
AA Change: V1056A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: V1056A

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: V840A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: V840A

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: V840A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: V840A

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: V1068A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: V1068A

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
Meta Mutation Damage Score 0.7340 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (92/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T G 5: 115,001,569 (GRCm39) M22R probably benign Het
Abca8b C A 11: 109,841,476 (GRCm39) M1039I probably benign Het
Actn2 A T 13: 12,292,301 (GRCm39) I653N probably damaging Het
Actr8 G T 14: 29,700,513 (GRCm39) V31L probably benign Het
Adam30 T C 3: 98,069,441 (GRCm39) C425R probably damaging Het
Armc1 A G 3: 19,203,659 (GRCm39) V89A possibly damaging Het
Atr T C 9: 95,817,579 (GRCm39) M2090T probably damaging Het
Braf T A 6: 39,641,923 (GRCm39) probably benign Het
Cant1 A T 11: 118,302,091 (GRCm39) N75K probably benign Het
Chd7 C T 4: 8,805,139 (GRCm39) probably benign Het
Clec16a A G 16: 10,432,444 (GRCm39) Y488C probably damaging Het
Col6a3 A T 1: 90,749,520 (GRCm39) probably benign Het
Col9a2 T A 4: 120,911,504 (GRCm39) M615K probably benign Het
Dedd G A 1: 171,168,498 (GRCm39) R228H probably damaging Het
Dhtkd1 C T 2: 5,908,902 (GRCm39) D731N probably damaging Het
Ercc2 A G 7: 19,127,812 (GRCm39) T651A probably damaging Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fam193a T C 5: 34,583,735 (GRCm39) S19P probably damaging Het
Fam43a T C 16: 30,420,553 (GRCm39) V379A possibly damaging Het
Fat1 C A 8: 45,404,369 (GRCm39) Y373* probably null Het
Fbxl15 A C 19: 46,317,861 (GRCm39) D181A probably damaging Het
Flt3 A T 5: 147,278,080 (GRCm39) C831* probably null Het
Foxj3 T A 4: 119,443,033 (GRCm39) probably benign Het
Glul T C 1: 153,781,132 (GRCm39) probably benign Het
Gm16380 A T 9: 53,791,529 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,158 (GRCm39) noncoding transcript Het
Hipk1 A G 3: 103,667,890 (GRCm39) F559S possibly damaging Het
Hnf4g A T 3: 3,716,682 (GRCm39) I284F probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icosl A G 10: 77,907,800 (GRCm39) N120S possibly damaging Het
Ift172 A G 5: 31,442,821 (GRCm39) V155A possibly damaging Het
Kdm4c A G 4: 74,252,031 (GRCm39) E426G probably benign Het
Kif23 A G 9: 61,826,257 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,086,129 (GRCm39) C1456Y possibly damaging Het
Lamc3 T A 2: 31,827,980 (GRCm39) L1378Q probably damaging Het
Larp1b T A 3: 40,924,469 (GRCm39) L121M probably benign Het
Lepr T A 4: 101,649,216 (GRCm39) D872E probably damaging Het
Lepr A C 4: 101,671,901 (GRCm39) D975A possibly damaging Het
Malt1 T A 18: 65,591,271 (GRCm39) N358K probably damaging Het
Mfap4 T A 11: 61,378,771 (GRCm39) W240R probably damaging Het
Mis18a A G 16: 90,523,244 (GRCm39) V84A possibly damaging Het
Mns1 A G 9: 72,356,753 (GRCm39) E308G possibly damaging Het
Mpp2 C A 11: 101,953,116 (GRCm39) L258F possibly damaging Het
Myh2 A G 11: 67,079,504 (GRCm39) E987G probably damaging Het
Myof A G 19: 37,942,972 (GRCm39) V702A possibly damaging Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Nrxn2 A G 19: 6,567,228 (GRCm39) T1360A probably damaging Het
Obox6 A G 7: 15,567,874 (GRCm39) I191T probably benign Het
Pacs2 G T 12: 113,014,547 (GRCm39) R236L probably damaging Het
Pcdhb2 T G 18: 37,429,032 (GRCm39) V335G probably damaging Het
Phyhipl T C 10: 70,404,748 (GRCm39) I140M probably damaging Het
Pkhd1 T C 1: 20,380,738 (GRCm39) probably benign Het
Ppp1r3b T G 8: 35,851,571 (GRCm39) C137G probably damaging Het
Prdm13 T A 4: 21,678,490 (GRCm39) I667F probably damaging Het
Prex2 A G 1: 11,270,157 (GRCm39) M1281V probably benign Het
Rab40b A G 11: 121,250,412 (GRCm39) F81L probably damaging Het
Rb1cc1 T C 1: 6,318,767 (GRCm39) S729P probably damaging Het
Rcl1 A G 19: 29,105,497 (GRCm39) D228G probably damaging Het
Rhbdf1 A T 11: 32,160,875 (GRCm39) C19* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf150 G A 8: 83,590,807 (GRCm39) V57M probably benign Het
Rp9 A G 9: 22,370,015 (GRCm39) F51L probably benign Het
Sav1 A T 12: 70,015,975 (GRCm39) Y274* probably null Het
Scn4a A T 11: 106,236,503 (GRCm39) D252E probably damaging Het
Scn5a T C 9: 119,379,724 (GRCm39) T187A probably damaging Het
Sigirr T A 7: 140,672,333 (GRCm39) D229V probably benign Het
Slc39a13 T C 2: 90,896,031 (GRCm39) S157G possibly damaging Het
Slc6a20a A G 9: 123,489,471 (GRCm39) S191P probably damaging Het
Sorl1 C A 9: 41,979,128 (GRCm39) A457S probably benign Het
Spag5 A G 11: 78,210,412 (GRCm39) probably benign Het
Spon1 A G 7: 113,436,066 (GRCm39) E119G possibly damaging Het
Spred2 T A 11: 19,958,485 (GRCm39) probably benign Het
Sprr3 T G 3: 92,364,784 (GRCm39) Q20P possibly damaging Het
Strn3 A T 12: 51,673,966 (GRCm39) F464L possibly damaging Het
Sun1 A G 5: 139,220,602 (GRCm39) probably benign Het
Sypl2 A G 3: 108,133,486 (GRCm39) W28R possibly damaging Het
Syt5 A T 7: 4,545,813 (GRCm39) V150D probably damaging Het
Tasor T C 14: 27,168,363 (GRCm39) F302L probably damaging Het
Thsd7a A G 6: 12,379,604 (GRCm39) I940T possibly damaging Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tnrc6a T A 7: 122,785,951 (GRCm39) probably benign Het
Trp53 T A 11: 69,479,509 (GRCm39) L203Q probably damaging Het
Tubgcp4 T C 2: 121,005,900 (GRCm39) V96A probably benign Het
Usp17la A G 7: 104,510,246 (GRCm39) T284A possibly damaging Het
Usp34 T C 11: 23,401,997 (GRCm39) M2409T probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r56 A G 7: 12,449,350 (GRCm39) I296T probably benign Het
Vmn2r67 A G 7: 84,799,900 (GRCm39) V446A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp267 T C 3: 36,220,262 (GRCm39) C762R 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
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
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'- AGCAACAATGACTCTGGTTCGTCTG -3'
(R):5'- GTTTTGACCATCAGCACAACGCTC -3'

Sequencing Primer
(F):5'- gagagagagggagggaagg -3'
(R):5'- GCTGTGGCAAGCTGAAAGTA -3'
Posted On 2013-06-12