Incidental Mutation 'R2331:Magi1'
| ID |
245871 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R2331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
93652436-94260898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93662543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1075
(K1075E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062085
(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: K1075E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: K1075E
| 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: K1172E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: K1172E
| 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 benign
Transcript: ENSMUST00000093769
AA Change: K956E
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: K956E
| 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: K1087E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: K1087E
| 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: ENSMUST00000203688
AA Change: K956E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095
AA Change: K956E
| 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 damaging
Transcript: ENSMUST00000204347
AA Change: K1184E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: K1184E
| 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 benign
Transcript: ENSMUST00000204532
|
| SMART Domains |
Protein: ENSMUSP00000144769
Gene: ENSMUSG00000045095
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
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 |
|
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'- TTGGCATTCAGAAAACACCTAC -3'
(R):5'- GGCATGGATCTGAATTCCCC -3'
Sequencing Primer
(F):5'- TGCCCGGAGTAAAGTACAATCCATG -3'
(R):5'- TGGATCTGAATTCCCCCAGAATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation