Incidental Mutation 'P0007:Magi1'
ID |
7614 |
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 |
038263-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.561)
|
Stock # |
P0007 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
93652436-94260898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93722969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 530
(I530T)
|
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: I518T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000062085 Gene: ENSMUSG00000045095 AA Change: I518T
Domain | Start | End | E-Value | Type |
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: I530T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086730 Gene: ENSMUSG00000045095 AA Change: I530T
Domain | Start | End | E-Value | Type |
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: I303T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091283 Gene: ENSMUSG00000045095 AA Change: I303T
Domain | Start | End | E-Value | Type |
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: I530T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145244 Gene: ENSMUSG00000045095 AA Change: I530T
Domain | Start | End | E-Value | Type |
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: I303T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145515 Gene: ENSMUSG00000045095 AA Change: I303T
Domain | Start | End | E-Value | Type |
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: I530T
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144881 Gene: ENSMUSG00000045095 AA Change: I530T
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000204532
AA Change: I303T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144769 Gene: ENSMUSG00000045095 AA Change: I303T
Domain | Start | End | E-Value | Type |
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 |
0.2464 |
Coding Region Coverage |
- 1x: 85.2%
- 3x: 80.2%
- 10x: 65.3%
- 20x: 42.8%
|
Validation Efficiency |
94% (102/109) |
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: 8 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
G |
13: 104,433,999 (GRCm39) |
T143A |
possibly damaging |
Het |
Cfap74 |
T |
A |
4: 155,506,685 (GRCm39) |
S139T |
possibly damaging |
Het |
Fbxo7 |
T |
C |
10: 85,869,157 (GRCm39) |
S204P |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 115,002,735 (GRCm39) |
I585N |
probably damaging |
Het |
Lgi3 |
A |
G |
14: 70,774,152 (GRCm39) |
Y442C |
probably damaging |
Het |
Med12l |
T |
C |
3: 58,998,816 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,358,847 (GRCm39) |
I1176M |
probably damaging |
Het |
Ostn |
G |
T |
16: 27,143,279 (GRCm39) |
G36* |
probably null |
Het |
|
Other mutations in Magi1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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Protein Function and Prediction |
Membrane-associated guanylate kinase (MAGI)-1/BAI-associated protein (BAP) 1 is a member of the membrane-associated guanylate kinase homologue (MAGUK) family (1). These proteins are structural and signaling scaffold proteins that assemble in complexes at subcellular sites of polarized epithelial cells and neurons (2). MAGI1/BAP1 has been identified as a tumor-suppressor protein (3) that can inhibit cancer cell migration and invasion via the regulation of PTEN (4;5). Studies have proposed a role for MAGI1 in bipolar affective disorder and schizophrenia, although more needs to be studied (6).
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Expression/Localization |
Northern blot analysis determined that BAP1 is expressed ubiquitously (1). BAP1 associates with BAI1 at cytoplasmic membrane in COS-7 cells (1). Immunofluourescense determined that the protein is localized at the apical portions of cell-cell junctions (7). In intestinal epithelial cells, BAP1 localized at tight junctions (7).
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References |
1. Shiratsuchi, T., Futamura, M., Oda, K., Nishimori, H., Nakamura, Y., and Tokino, T. (1998) Cloning and Characterization of BAI-Associated Protein 1: A PDZ Domain-Containing Protein that Interacts with BAI1. Biochem Biophys Res Commun. 247, 597-604.
3. Zaric, J., Joseph, J. M., Tercier, S., Sengstag, T., Ponsonnet, L., Delorenzi, M., and Ruegg, C. (2012) Identification of MAGI1 as a Tumor-Suppressor Protein Induced by Cyclooxygenase-2 Inhibitors in Colorectal Cancer Cells. Oncogene. 31, 48-59.
6. Karlsson, R., Graae, L., Lekman, M., Wang, D., Favis, R., Axelsson, T., Galter, D., Belin, A. C., and Paddock, S. (2012) MAGI1 Copy Number Variation in Bipolar Affective Disorder and Schizophrenia. Biol Psychiatry. 71, 922-930.
7. Ide, N., Hata, Y., Nishioka, H., Hirao, K., Yao, I., Deguchi, M., Mizoguchi, A., Nishimori, H., Tokino, T., Nakamura, Y., and Takai, Y. (1999) Localization of Membrane-Associated Guanylate Kinase (MAGI)-1/BAI-Associated Protein (BAP) 1 at Tight Junctions of Epithelial Cells. Oncogene. 18, 7810-7815.
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Posted On |
2012-10-05 |
Science Writer |
Anne Murray |