Incidental Mutation 'IGL02900:Magi1'
ID 363540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magi1
Ensembl Gene ENSMUSG00000045095
Gene Name membrane associated guanylate kinase, WW and PDZ domain containing 1
Synonyms Baiap1, Gukmi1, AIP3, BAP1, WWP3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # IGL02900
Quality Score
Status
Chromosome 6
Chromosomal Location 93652436-94260898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93663854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 991 (S991P)
Ref Sequence ENSEMBL: ENSMUSP00000145244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]
AlphaFold Q6RHR9
Predicted Effect probably damaging
Transcript: ENSMUST00000055224
AA Change: S979P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: S979P

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: S1076P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: S1076P

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 benign
Transcript: ENSMUST00000093769
AA Change: S860P

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: S860P

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: S991P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: S991P

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: S860P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: S860P

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: S1088P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: S1088P

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,774 (GRCm39) T23N possibly damaging Het
Angpt4 T A 2: 151,753,391 (GRCm39) V47E probably damaging Het
Arhgef11 G A 3: 87,640,467 (GRCm39) R1208Q probably benign Het
Calb1 T C 4: 15,895,695 (GRCm39) probably benign Het
Capn11 G T 17: 45,941,540 (GRCm39) probably null Het
Carmil2 T A 8: 106,422,151 (GRCm39) I1140N probably damaging Het
Cnn3 A T 3: 121,245,143 (GRCm39) T23S probably benign Het
Colgalt2 C T 1: 152,384,481 (GRCm39) T607M probably damaging Het
Cyp46a1 T G 12: 108,309,350 (GRCm39) V93G probably damaging Het
Dcaf6 T C 1: 165,227,344 (GRCm39) Y261C probably damaging Het
Dnah10 A G 5: 124,878,886 (GRCm39) Y2715C probably damaging Het
Dsg1a G T 18: 20,461,713 (GRCm39) probably benign Het
Eml4 C T 17: 83,785,421 (GRCm39) P862L probably benign Het
Gm5414 T C 15: 101,536,242 (GRCm39) T128A probably damaging Het
Gp9 G T 6: 87,756,415 (GRCm39) W143C probably damaging Het
Hipk2 T C 6: 38,706,879 (GRCm39) I670V probably damaging Het
Hoxa10 T C 6: 52,209,541 (GRCm39) K77R possibly damaging Het
Kcna1 T G 6: 126,620,057 (GRCm39) S88R probably damaging Het
Kif1b A T 4: 149,265,266 (GRCm39) S1758T possibly damaging Het
Klk1b11 A G 7: 43,427,837 (GRCm39) T182A probably damaging Het
Lrp1 G A 10: 127,412,516 (GRCm39) probably benign Het
Mast4 T A 13: 102,872,184 (GRCm39) T2203S probably benign Het
Mxra8 A G 4: 155,925,576 (GRCm39) E95G possibly damaging Het
Mxra8 A G 4: 155,925,668 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or14j9 A G 17: 37,874,740 (GRCm39) I154T possibly damaging Het
Or2f2 T A 6: 42,767,808 (GRCm39) Y278* probably null Het
Or8g2b T A 9: 39,751,108 (GRCm39) I126N probably damaging Het
Or8g4 A T 9: 39,661,901 (GRCm39) H73L probably benign Het
Pbx4 A G 8: 70,319,216 (GRCm39) E249G probably damaging Het
Pkd1l2 T C 8: 117,750,830 (GRCm39) E1727G probably benign Het
Plec T G 15: 76,070,414 (GRCm39) D932A probably damaging Het
Pramel22 A T 4: 143,382,085 (GRCm39) F204I possibly damaging Het
Raph1 T C 1: 60,542,022 (GRCm39) D364G probably damaging Het
Rps29 T A 12: 69,205,825 (GRCm39) H3L probably damaging Het
Sema4c A T 1: 36,589,826 (GRCm39) C509* probably null Het
Srgap2 A T 1: 131,339,534 (GRCm39) probably benign Het
Stam2 A T 2: 52,598,209 (GRCm39) D243E probably benign Het
Stxbp4 A G 11: 90,497,861 (GRCm39) L146P probably benign Het
Teddm3 G T 16: 20,971,900 (GRCm39) T223K probably benign Het
Tfap2d A T 1: 19,189,474 (GRCm39) N285Y probably damaging Het
Tmprss3 T A 17: 31,403,553 (GRCm39) D416V probably damaging Het
Vmn1r71 T A 7: 10,482,601 (GRCm39) Y29F probably benign Het
Vmn2r84 T C 10: 130,223,861 (GRCm39) probably benign Het
Washc2 G T 6: 116,204,435 (GRCm39) D362Y probably damaging Het
Wbp2nl T C 15: 82,198,035 (GRCm39) S191P probably benign Het
Zfp608 T C 18: 55,079,865 (GRCm39) T307A probably damaging Het
Zfp970 T C 2: 177,166,610 (GRCm39) 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
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
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
Posted On 2015-12-18