Incidental Mutation 'R6661:Magi1'
ID |
526841 |
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 |
044781-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.561)
|
Stock # |
R6661 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
93652436-94260898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93920289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 109
(N109S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055224]
[ENSMUST00000089317]
[ENSMUST00000203519]
[ENSMUST00000204347]
|
AlphaFold |
Q6RHR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055224
AA Change: N109S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000062085 Gene: ENSMUSG00000045095 AA Change: N109S
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: N109S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000086730 Gene: ENSMUSG00000045095 AA Change: N109S
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: ENSMUST00000203519
AA Change: N109S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000145244 Gene: ENSMUSG00000045095 AA Change: N109S
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: N109S
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144881 Gene: ENSMUSG00000045095 AA Change: N109S
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: 97.8%
- 20x: 93.8%
|
Validation Efficiency |
93% (38/41) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
Arhgap28 |
C |
A |
17: 68,152,746 (GRCm39) |
W675L |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,900,834 (GRCm39) |
S595P |
probably damaging |
Het |
Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
Jcad |
G |
A |
18: 4,675,256 (GRCm39) |
G1006D |
probably damaging |
Het |
Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,593,377 (GRCm39) |
V150E |
probably damaging |
Het |
Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
Selenbp2 |
A |
G |
3: 94,609,821 (GRCm39) |
D257G |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
unknown |
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 |
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'- GGCTAAGAACCTTCAGCCTTG -3'
(R):5'- GCCCACACCTTACTTCAGTG -3'
Sequencing Primer
(F):5'- TCTTCTATTTATAGCCACATGCATG -3'
(R):5'- TGCTTTTCCCCGGGAGAG -3'
|
Posted On |
2018-07-23 |