Incidental Mutation 'R9277:Magi1'
| ID |
703366 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.561)
|
| Stock # |
R9277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
93652436-94260898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93920234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 127
(H127Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055224]
[ENSMUST00000089317]
[ENSMUST00000203519]
[ENSMUST00000204347]
|
| 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: H127Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: H127Q
| 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 |
possibly damaging
Transcript: ENSMUST00000089317
AA Change: H127Q
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: H127Q
| 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: ENSMUST00000203519
AA Change: H127Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: H127Q
| 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 |
probably damaging
Transcript: ENSMUST00000204347
AA Change: H127Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: H127Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,347 (GRCm39) |
Y237C |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,561 (GRCm39) |
S566G |
probably benign |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,061,183 (GRCm39) |
I3222F |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,042,222 (GRCm39) |
D420G |
probably benign |
Het |
| Cela1 |
C |
A |
15: 100,580,894 (GRCm39) |
A121S |
possibly damaging |
Het |
| Clip2 |
A |
G |
5: 134,528,963 (GRCm39) |
M822T |
probably benign |
Het |
| Coq8a |
G |
A |
1: 180,006,776 (GRCm39) |
T84I |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,877,527 (GRCm39) |
A390V |
probably benign |
Het |
| Dhx40 |
C |
T |
11: 86,661,056 (GRCm39) |
M744I |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,689 (GRCm39) |
I204V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,750,855 (GRCm39) |
F322V |
probably damaging |
Het |
| Eif4g2 |
G |
A |
7: 110,674,066 (GRCm39) |
A646V |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,097 (GRCm39) |
T91A |
probably benign |
Het |
| Fancl |
A |
T |
11: 26,418,847 (GRCm39) |
I290F |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,245 (GRCm39) |
Y253N |
possibly damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,565 (GRCm39) |
R880L |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,417,402 (GRCm39) |
S2036T |
probably damaging |
Het |
| Gm10330 |
A |
T |
12: 23,829,911 (GRCm39) |
V90E |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,914,255 (GRCm39) |
E488G |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,148,446 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,539 (GRCm39) |
N265S |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,887,520 (GRCm39) |
V2515M |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,982 (GRCm39) |
L505P |
probably damaging |
Het |
| Klrg2 |
A |
G |
6: 38,613,491 (GRCm39) |
S171P |
probably benign |
Het |
| Lamtor5 |
A |
G |
3: 107,186,404 (GRCm39) |
T58A |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 134,915,217 (GRCm39) |
C787* |
probably null |
Het |
| Madd |
A |
G |
2: 91,006,055 (GRCm39) |
F380S |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,872 (GRCm39) |
E362G |
|
Het |
| Morc2b |
C |
T |
17: 33,354,997 (GRCm39) |
G925D |
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,518,523 (GRCm39) |
R1672H |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,493 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Obox5 |
A |
T |
7: 15,491,877 (GRCm39) |
E97D |
probably damaging |
Het |
| Parn |
C |
T |
16: 13,482,519 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
A |
T |
11: 97,613,272 (GRCm39) |
N241K |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,509 (GRCm39) |
V539A |
probably benign |
Het |
| Plpp7 |
A |
T |
2: 31,985,824 (GRCm39) |
M1L |
probably damaging |
Het |
| Pramel43 |
T |
C |
5: 94,762,843 (GRCm39) |
T60A |
probably benign |
Het |
| Pramel44 |
A |
G |
5: 94,771,917 (GRCm39) |
T16A |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,716,929 (GRCm39) |
S90N |
probably benign |
Het |
| Rgs7bp |
G |
A |
13: 105,100,618 (GRCm39) |
T219M |
probably damaging |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,998 (GRCm39) |
D69N |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,379,619 (GRCm39) |
T1145A |
probably damaging |
Het |
| Slc49a3 |
G |
T |
5: 108,589,864 (GRCm39) |
P513T |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,009,165 (GRCm39) |
Q359R |
probably benign |
Het |
| Trmt5 |
C |
A |
12: 73,329,448 (GRCm39) |
D237Y |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,390 (GRCm39) |
I261F |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,322 (GRCm39) |
I292F |
unknown |
Het |
| Vmn2r66 |
T |
C |
7: 84,661,164 (GRCm39) |
D22G |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,196,534 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
T |
A |
14: 79,714,353 (GRCm39) |
D53V |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,241,550 (GRCm39) |
I866V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,254 (GRCm39) |
P975L |
unknown |
Het |
| Zdhhc19 |
G |
A |
16: 32,316,512 (GRCm39) |
R89Q |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,297 (GRCm39) |
T69I |
probably benign |
Het |
| Zfp827 |
C |
T |
8: 79,787,029 (GRCm39) |
T65I |
probably damaging |
Het |
| Zswim9 |
A |
G |
7: 12,994,983 (GRCm39) |
F391S |
probably damaging |
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 |
|
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 |
|
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'- ATTGTGCTGCCGTGGCTAAG -3'
(R):5'- CTTGTGGTGGCCAAGAATCTG -3'
Sequencing Primer
(F):5'- GTGGCTAAGAACCTTCAGCCTTG -3'
(R):5'- CCAAGAATCTGTGTGTGGGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation