Incidental Mutation 'R1707:Magi2'
| ID |
190136 |
| 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 |
039740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
19432034-20909790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 20420491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 309
(M309R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088516]
[ENSMUST00000101558]
[ENSMUST00000115267]
[ENSMUST00000197354]
[ENSMUST00000197443]
|
| AlphaFold |
Q9WVQ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088516
AA Change: M309R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: M309R
| 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 damaging
Transcript: ENSMUST00000101558
AA Change: M146R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: M146R
| 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 |
possibly damaging
Transcript: ENSMUST00000115267
AA Change: M146R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: M146R
| 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 |
probably damaging
Transcript: ENSMUST00000197354
AA Change: M309R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: M309R
| 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 damaging
Transcript: ENSMUST00000197443
AA Change: M309R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: M309R
| 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 |
noncoding transcript
Transcript: ENSMUST00000197822
|
| Meta Mutation Damage Score |
0.4820 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (82/85) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
T |
1: 159,898,372 (GRCm39) |
|
probably benign |
Het |
| 4931429P17Rik |
A |
G |
13: 48,114,481 (GRCm39) |
|
noncoding transcript |
Het |
| Acox3 |
T |
A |
5: 35,758,908 (GRCm39) |
I373N |
possibly damaging |
Het |
| Adgrb1 |
G |
T |
15: 74,401,192 (GRCm39) |
A63S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aplp2 |
A |
T |
9: 31,062,215 (GRCm39) |
H692Q |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,039,953 (GRCm39) |
S297P |
probably benign |
Het |
| Arhgap9 |
C |
T |
10: 127,164,758 (GRCm39) |
P561S |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,291,600 (GRCm39) |
D62A |
probably damaging |
Het |
| Asb14 |
T |
G |
14: 26,623,079 (GRCm39) |
F150L |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,357,635 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 57,675,169 (GRCm39) |
D686G |
probably benign |
Het |
| Bmpr1a |
A |
T |
14: 34,147,098 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,881,030 (GRCm39) |
|
probably null |
Het |
| Ccin |
T |
A |
4: 43,983,947 (GRCm39) |
I118N |
probably benign |
Het |
| Cd8b1 |
G |
A |
6: 71,303,168 (GRCm39) |
G81D |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,100,383 (GRCm39) |
S717L |
probably benign |
Het |
| Cip2a |
A |
C |
16: 48,838,767 (GRCm39) |
Q861H |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,276,114 (GRCm39) |
R76W |
probably damaging |
Het |
| Copg1 |
A |
T |
6: 87,882,192 (GRCm39) |
T596S |
probably benign |
Het |
| Cpb1 |
G |
A |
3: 20,329,655 (GRCm39) |
R24W |
probably damaging |
Het |
| Csad |
T |
A |
15: 102,088,407 (GRCm39) |
D134V |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,034,912 (GRCm39) |
|
probably benign |
Het |
| Ddb2 |
A |
G |
2: 91,064,554 (GRCm39) |
W119R |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,655 (GRCm39) |
S317T |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,404,763 (GRCm39) |
V342A |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,189,679 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,206,727 (GRCm39) |
W1005L |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,695,150 (GRCm39) |
M989V |
probably benign |
Het |
| Entr1 |
T |
A |
2: 26,277,618 (GRCm39) |
N69Y |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,124,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9944 |
A |
G |
4: 144,179,833 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,829 (GRCm39) |
Y696H |
probably damaging |
Het |
| H2-M11 |
T |
G |
17: 36,859,658 (GRCm39) |
V217G |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,183,295 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,285,799 (GRCm39) |
|
probably null |
Het |
| Ints11 |
T |
G |
4: 155,959,655 (GRCm39) |
D87E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,595,073 (GRCm39) |
S21T |
probably benign |
Het |
| Intu |
C |
A |
3: 40,637,931 (GRCm39) |
D472E |
possibly damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,316,985 (GRCm39) |
N45K |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klrg2 |
C |
G |
6: 38,613,729 (GRCm39) |
E91D |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,802,141 (GRCm39) |
|
probably null |
Het |
| Magohb |
G |
A |
6: 131,261,600 (GRCm39) |
P147S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,454,095 (GRCm39) |
D203G |
probably damaging |
Het |
| Mvp |
C |
T |
7: 126,600,744 (GRCm39) |
V86I |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,379,363 (GRCm39) |
F226I |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,476,133 (GRCm39) |
Q51L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,426,430 (GRCm39) |
F1594I |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,397,104 (GRCm39) |
E816A |
possibly damaging |
Het |
| Nom1 |
G |
A |
5: 29,640,316 (GRCm39) |
S214N |
probably damaging |
Het |
| Or2l13b |
T |
C |
16: 19,348,927 (GRCm39) |
T248A |
probably benign |
Het |
| Or8c9 |
T |
A |
9: 38,241,197 (GRCm39) |
F105I |
probably damaging |
Het |
| Parp14 |
A |
C |
16: 35,678,219 (GRCm39) |
L583R |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,763,238 (GRCm39) |
S3904P |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,621,064 (GRCm39) |
|
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,046,978 (GRCm39) |
K166E |
probably damaging |
Het |
| Polr1e |
A |
C |
4: 45,027,469 (GRCm39) |
D233A |
probably damaging |
Het |
| Prr29 |
T |
C |
11: 106,267,509 (GRCm39) |
V124A |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,129,028 (GRCm39) |
V197E |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,067,707 (GRCm39) |
T415S |
unknown |
Het |
| Sacs |
G |
T |
14: 61,447,211 (GRCm39) |
V3086L |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,606,141 (GRCm39) |
S750P |
probably benign |
Het |
| Scpppq1 |
T |
A |
5: 104,222,099 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,416,512 (GRCm39) |
S372T |
probably benign |
Het |
| Sis |
A |
G |
3: 72,816,420 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,796,769 (GRCm39) |
V291D |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,371,377 (GRCm39) |
N171S |
probably damaging |
Het |
| Slc25a40 |
G |
A |
5: 8,490,793 (GRCm39) |
|
probably null |
Het |
| Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,454,811 (GRCm39) |
F2999L |
probably damaging |
Het |
| Stambpl1 |
A |
C |
19: 34,216,221 (GRCm39) |
T363P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,537,892 (GRCm39) |
N1785Y |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,283,089 (GRCm39) |
S293N |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,584,833 (GRCm39) |
L141F |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,086,843 (GRCm39) |
T320K |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,972,714 (GRCm39) |
Y296C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,620,430 (GRCm39) |
A15802T |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,741,049 (GRCm39) |
M734V |
probably benign |
Het |
| Vmn1r24 |
A |
G |
6: 57,933,497 (GRCm39) |
I7T |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,504 (GRCm39) |
V268E |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 119,847,841 (GRCm39) |
H347Q |
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 |
|
|
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 |
|
R1839: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'- ACTGTGGCTGGAACAACTGACC -3'
(R):5'- CACCCAAAGAGTGTCTGTGAAGGAG -3'
Sequencing Primer
(F):5'- CTTCTTGCAGAATCCAGTGAAC -3'
(R):5'- gttggggttatcacaacatgag -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation