Incidental Mutation 'R6355:Magi1'
| ID |
512334 |
| 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 |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
93652436-94260898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94260177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 43
(Y43H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055224]
[ENSMUST00000089317]
[ENSMUST00000203519]
[ENSMUST00000204347]
|
| AlphaFold |
Q6RHR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055224
AA Change: Y43H
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095
AA Change: Y43H
| 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 benign
Transcript: ENSMUST00000089317
AA Change: Y43H
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: Y43H
| 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 |
noncoding transcript
Transcript: ENSMUST00000203034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203519
AA Change: Y43H
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095
AA Change: Y43H
| 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 benign
Transcript: ENSMUST00000204347
AA Change: Y43H
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095
AA Change: Y43H
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
| Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
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 |
|
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'- TGACGGCTTTGAAGGTGACG -3'
(R):5'- ATGCAAACAAAGCTCGCGG -3'
Sequencing Primer
(F):5'- TTTGAAGGTGACGGCCTCC -3'
(R):5'- AGATGCTTCTCCCGTGAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation