Incidental Mutation 'R1839:Magi2'
| ID |
205587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Magi2
|
| Ensembl Gene |
ENSMUSG00000040003 |
| Gene Name |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
| Synonyms |
Acvrinp1, Magi-2, S-SCAM |
| MMRRC Submission |
045015-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
19432034-20909790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20670825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 163
(T163S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088516]
[ENSMUST00000101558]
[ENSMUST00000115267]
[ENSMUST00000197354]
[ENSMUST00000197443]
[ENSMUST00000197553]
[ENSMUST00000208219]
|
| AlphaFold |
Q9WVQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088516
AA Change: T553S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: T553S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
101 |
5.26e-9 |
SMART |
|
GuKc
|
107 |
290 |
2.76e-45 |
SMART |
|
WW
|
302 |
334 |
7.43e-12 |
SMART |
|
WW
|
348 |
380 |
2.4e-6 |
SMART |
|
PDZ
|
433 |
509 |
3.51e-19 |
SMART |
|
PDZ
|
612 |
682 |
2.3e-14 |
SMART |
|
PDZ
|
785 |
861 |
4.04e-19 |
SMART |
|
low complexity region
|
893 |
907 |
N/A |
INTRINSIC |
|
PDZ
|
928 |
1009 |
5.05e-20 |
SMART |
|
low complexity region
|
1052 |
1063 |
N/A |
INTRINSIC |
|
PDZ
|
1147 |
1221 |
3.88e-21 |
SMART |
|
low complexity region
|
1257 |
1270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101558
AA Change: T390S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: T390S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
WW
|
139 |
171 |
7.43e-12 |
SMART |
|
WW
|
185 |
217 |
2.4e-6 |
SMART |
|
PDZ
|
270 |
346 |
3.51e-19 |
SMART |
|
PDZ
|
449 |
519 |
2.3e-14 |
SMART |
|
PDZ
|
608 |
684 |
4.04e-19 |
SMART |
|
low complexity region
|
716 |
730 |
N/A |
INTRINSIC |
|
PDZ
|
751 |
832 |
5.05e-20 |
SMART |
|
low complexity region
|
875 |
886 |
N/A |
INTRINSIC |
|
PDZ
|
970 |
1044 |
3.88e-21 |
SMART |
|
low complexity region
|
1080 |
1093 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115267
AA Change: T390S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: T390S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
WW
|
139 |
171 |
7.43e-12 |
SMART |
|
WW
|
185 |
217 |
2.4e-6 |
SMART |
|
PDZ
|
270 |
346 |
3.51e-19 |
SMART |
|
PDZ
|
449 |
519 |
2.3e-14 |
SMART |
|
PDZ
|
622 |
698 |
4.04e-19 |
SMART |
|
low complexity region
|
730 |
744 |
N/A |
INTRINSIC |
|
PDZ
|
765 |
846 |
5.05e-20 |
SMART |
|
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
|
PDZ
|
984 |
1058 |
3.88e-21 |
SMART |
|
low complexity region
|
1094 |
1107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197354
AA Change: T553S
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: T553S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
101 |
2.5e-11 |
SMART |
|
GuKc
|
107 |
290 |
1.4e-47 |
SMART |
|
WW
|
302 |
334 |
4.3e-14 |
SMART |
|
WW
|
348 |
380 |
1.4e-8 |
SMART |
|
PDZ
|
433 |
509 |
1.7e-21 |
SMART |
|
PDZ
|
612 |
682 |
1.1e-16 |
SMART |
|
PDZ
|
785 |
861 |
2e-21 |
SMART |
|
low complexity region
|
893 |
907 |
N/A |
INTRINSIC |
|
PDZ
|
928 |
1009 |
2.4e-22 |
SMART |
|
low complexity region
|
1052 |
1063 |
N/A |
INTRINSIC |
|
PDZ
|
1147 |
1221 |
1.9e-23 |
SMART |
|
low complexity region
|
1255 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1304 |
1319 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1363 |
N/A |
INTRINSIC |
|
low complexity region
|
1368 |
1384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197443
AA Change: T553S
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: T553S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
101 |
2.5e-11 |
SMART |
|
GuKc
|
107 |
290 |
1.4e-47 |
SMART |
|
WW
|
302 |
334 |
4.3e-14 |
SMART |
|
WW
|
348 |
380 |
1.4e-8 |
SMART |
|
PDZ
|
433 |
509 |
1.7e-21 |
SMART |
|
PDZ
|
612 |
682 |
1.1e-16 |
SMART |
|
PDZ
|
771 |
847 |
2e-21 |
SMART |
|
low complexity region
|
879 |
893 |
N/A |
INTRINSIC |
|
PDZ
|
914 |
995 |
2.4e-22 |
SMART |
|
low complexity region
|
1038 |
1049 |
N/A |
INTRINSIC |
|
PDZ
|
1133 |
1207 |
1.9e-23 |
SMART |
|
low complexity region
|
1241 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1349 |
N/A |
INTRINSIC |
|
low complexity region
|
1354 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197553
AA Change: T163S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208219
AA Change: T163S
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0628 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.6%
|
| Validation Efficiency |
98% (90/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,369 (GRCm39) |
T403A |
probably damaging |
Het |
| Acat3 |
T |
A |
17: 13,147,493 (GRCm39) |
R175* |
probably null |
Het |
| Adam1b |
C |
A |
5: 121,639,104 (GRCm39) |
C647F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,876,659 (GRCm39) |
N197S |
possibly damaging |
Het |
| Adcy2 |
C |
T |
13: 68,837,380 (GRCm39) |
|
probably null |
Het |
| Adcy5 |
A |
T |
16: 35,069,310 (GRCm39) |
N426I |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,748,299 (GRCm39) |
S500P |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,020,911 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,562,942 (GRCm39) |
S180P |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,760,626 (GRCm39) |
R790W |
probably damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,203,702 (GRCm39) |
A757S |
possibly damaging |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,831,477 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
A |
G |
12: 108,161,333 (GRCm39) |
T195A |
probably damaging |
Het |
| Cd55b |
C |
A |
1: 130,341,842 (GRCm39) |
C265F |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,105 (GRCm39) |
H1196R |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,646 (GRCm39) |
S190G |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,442,340 (GRCm39) |
S2077G |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,742,032 (GRCm39) |
H2296Y |
probably benign |
Het |
| Cxxc4 |
C |
A |
3: 133,946,414 (GRCm39) |
H332N |
probably damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,661 (GRCm39) |
I12V |
probably benign |
Het |
| Cyp3a57 |
T |
A |
5: 145,318,111 (GRCm39) |
L364Q |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,440,837 (GRCm39) |
I47V |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,723 (GRCm39) |
D322E |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,680,123 (GRCm39) |
C405R |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,087,796 (GRCm39) |
F100S |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,090,480 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
T |
14: 90,135,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17332 |
T |
C |
11: 31,132,386 (GRCm39) |
H26R |
possibly damaging |
Het |
| Gna12 |
T |
C |
5: 140,748,367 (GRCm39) |
N183S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,496,497 (GRCm39) |
N24D |
probably benign |
Het |
| Gsdma3 |
C |
T |
11: 98,520,684 (GRCm39) |
A105V |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,527,044 (GRCm39) |
Y134C |
probably benign |
Het |
| Ifi213 |
T |
C |
1: 173,417,166 (GRCm39) |
I415M |
probably damaging |
Het |
| Ints9 |
C |
A |
14: 65,253,979 (GRCm39) |
P278T |
probably damaging |
Het |
| Krt79 |
C |
T |
15: 101,846,373 (GRCm39) |
E192K |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,567,337 (GRCm39) |
N132S |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,213,152 (GRCm39) |
K470* |
probably null |
Het |
| Mcm9 |
A |
G |
10: 53,417,649 (GRCm39) |
M18T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,975,740 (GRCm39) |
T212A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,058,012 (GRCm39) |
L829P |
possibly damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,407 (GRCm39) |
C288S |
probably benign |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,637 (GRCm39) |
N1725S |
possibly damaging |
Het |
| Naa80 |
G |
A |
9: 107,460,216 (GRCm39) |
R37H |
possibly damaging |
Het |
| Nme4 |
A |
T |
17: 26,311,071 (GRCm39) |
W165R |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,196,649 (GRCm39) |
D1128E |
probably benign |
Het |
| Or2t48 |
A |
T |
11: 58,420,199 (GRCm39) |
Y204* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,332,538 (GRCm39) |
D155G |
possibly damaging |
Het |
| Pex12 |
A |
T |
11: 83,188,648 (GRCm39) |
S116T |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,125,731 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
A |
G |
11: 101,054,426 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,104,342 (GRCm39) |
M572T |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,765,719 (GRCm39) |
R667G |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,530,651 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,491,017 (GRCm39) |
V645E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,623 (GRCm39) |
V696A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,344 (GRCm39) |
F1212L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,270,932 (GRCm39) |
E109G |
probably benign |
Het |
| Serpind1 |
G |
T |
16: 17,160,856 (GRCm39) |
R462L |
probably damaging |
Het |
| Smad9 |
CTTT |
CTT |
3: 54,696,600 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
C |
A |
2: 148,237,453 (GRCm39) |
N21K |
probably benign |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Thap4 |
T |
C |
1: 93,678,009 (GRCm39) |
E259G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,646,969 (GRCm39) |
N30S |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,343,571 (GRCm39) |
V27E |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,644,714 (GRCm39) |
V305A |
probably damaging |
Het |
| Trim59 |
A |
T |
3: 68,944,971 (GRCm39) |
I123K |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,691,839 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
T |
A |
2: 25,897,750 (GRCm39) |
E290V |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,308 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,666,814 (GRCm39) |
D206E |
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,640,086 (GRCm39) |
H465R |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,782,217 (GRCm39) |
|
probably null |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,529 (GRCm39) |
R158Q |
possibly damaging |
Het |
| Wdr59 |
T |
C |
8: 112,211,972 (GRCm39) |
D366G |
probably benign |
Het |
| Zfp366 |
C |
A |
13: 99,365,000 (GRCm39) |
Q54K |
probably damaging |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
possibly damaging |
Het |
|
| Other mutations in Magi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Magi2
|
APN |
5 |
20,596,299 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02120:Magi2
|
APN |
5 |
20,433,451 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02341:Magi2
|
APN |
5 |
20,671,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02411:Magi2
|
APN |
5 |
19,883,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Magi2
|
APN |
5 |
19,432,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02976:Magi2
|
APN |
5 |
20,739,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Magi2
|
APN |
5 |
20,748,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03246:Magi2
|
APN |
5 |
20,563,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Magi2
|
APN |
5 |
20,671,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
LCD18:Magi2
|
UTSW |
5 |
20,159,509 (GRCm39) |
intron |
probably benign |
|
|
PIT4519001:Magi2
|
UTSW |
5 |
20,866,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Magi2
|
UTSW |
5 |
20,816,053 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0009:Magi2
|
UTSW |
5 |
20,816,053 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0352:Magi2
|
UTSW |
5 |
20,270,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Magi2
|
UTSW |
5 |
19,432,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Magi2
|
UTSW |
5 |
20,866,357 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Magi2
|
UTSW |
5 |
20,816,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Magi2
|
UTSW |
5 |
20,563,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Magi2
|
UTSW |
5 |
19,432,330 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1616:Magi2
|
UTSW |
5 |
20,814,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Magi2
|
UTSW |
5 |
20,910,504 (GRCm39) |
unclassified |
probably benign |
|
|
R1707:Magi2
|
UTSW |
5 |
20,420,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Magi2
|
UTSW |
5 |
19,432,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Magi2
|
UTSW |
5 |
20,670,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Magi2
|
UTSW |
5 |
20,670,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Magi2
|
UTSW |
5 |
20,807,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2223:Magi2
|
UTSW |
5 |
20,670,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Magi2
|
UTSW |
5 |
19,883,750 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2504:Magi2
|
UTSW |
5 |
20,563,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
|
R2879:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
|
R2935:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
|
R2936:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
|
R3694:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
|
R3783:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3786:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3787:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3837:Magi2
|
UTSW |
5 |
20,420,466 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4151:Magi2
|
UTSW |
5 |
19,432,290 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4721:Magi2
|
UTSW |
5 |
20,739,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Magi2
|
UTSW |
5 |
20,739,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5012:Magi2
|
UTSW |
5 |
20,670,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5193:Magi2
|
UTSW |
5 |
20,563,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5298:Magi2
|
UTSW |
5 |
20,774,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Magi2
|
UTSW |
5 |
20,907,108 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5580:Magi2
|
UTSW |
5 |
20,420,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5806:Magi2
|
UTSW |
5 |
20,856,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5924:Magi2
|
UTSW |
5 |
20,816,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5992:Magi2
|
UTSW |
5 |
19,432,289 (GRCm39) |
start codon destroyed |
probably null |
0.42 |
|
R6014:Magi2
|
UTSW |
5 |
20,816,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Magi2
|
UTSW |
5 |
20,774,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Magi2
|
UTSW |
5 |
20,807,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6664:Magi2
|
UTSW |
5 |
20,907,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7229:Magi2
|
UTSW |
5 |
20,670,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Magi2
|
UTSW |
5 |
20,755,238 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7448:Magi2
|
UTSW |
5 |
20,563,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Magi2
|
UTSW |
5 |
20,433,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Magi2
|
UTSW |
5 |
20,755,280 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7808:Magi2
|
UTSW |
5 |
20,670,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7955:Magi2
|
UTSW |
5 |
20,594,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Magi2
|
UTSW |
5 |
20,596,392 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8134:Magi2
|
UTSW |
5 |
20,596,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Magi2
|
UTSW |
5 |
20,814,305 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8481:Magi2
|
UTSW |
5 |
20,594,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8553:Magi2
|
UTSW |
5 |
20,856,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8751:Magi2
|
UTSW |
5 |
20,739,462 (GRCm39) |
missense |
probably benign |
|
|
R8766:Magi2
|
UTSW |
5 |
20,400,123 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8851:Magi2
|
UTSW |
5 |
20,270,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Magi2
|
UTSW |
5 |
20,856,190 (GRCm39) |
nonsense |
probably null |
|
|
R9120:Magi2
|
UTSW |
5 |
20,733,305 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9335:Magi2
|
UTSW |
5 |
20,866,263 (GRCm39) |
missense |
|
|
|
R9367:Magi2
|
UTSW |
5 |
20,766,308 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9454:Magi2
|
UTSW |
5 |
20,671,176 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9474:Magi2
|
UTSW |
5 |
20,400,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9577:Magi2
|
UTSW |
5 |
20,814,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Magi2
|
UTSW |
5 |
20,670,582 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9696:Magi2
|
UTSW |
5 |
20,670,864 (GRCm39) |
missense |
probably benign |
0.35 |
|
X0065:Magi2
|
UTSW |
5 |
20,774,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Magi2
|
UTSW |
5 |
20,907,107 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Magi2
|
UTSW |
5 |
20,907,410 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTCATGCAGATGTTGTCAAAC -3'
(R):5'- AGTAAAGCCAAATCCCTGGGC -3'
Sequencing Primer
(F):5'- GCAGATGTTGTCAAACTTTTCCAGTC -3'
(R):5'- GGCACCTTTCACAATGGTTAAGGTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation