Incidental Mutation 'R2496:Magi2'
ID |
251169 |
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 |
040410-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
19432034-20909790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19883750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 134
(Y134F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088516]
[ENSMUST00000197354]
[ENSMUST00000197443]
|
AlphaFold |
Q9WVQ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088516
AA Change: Y134F
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000085872 Gene: ENSMUSG00000040003 AA Change: Y134F
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: ENSMUST00000197354
AA Change: Y134F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000142576 Gene: ENSMUSG00000040003 AA Change: Y134F
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: Y134F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000142764 Gene: ENSMUSG00000040003 AA Change: Y134F
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: ENSMUST00000200518
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,239,629 (GRCm39) |
R243Q |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,336,680 (GRCm39) |
W10R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
Dpp4 |
G |
A |
2: 62,217,477 (GRCm39) |
T40M |
possibly damaging |
Het |
Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
Fam120a |
G |
T |
13: 49,121,069 (GRCm39) |
A79E |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
Mdfic |
A |
T |
6: 15,741,041 (GRCm39) |
H45L |
possibly damaging |
Het |
Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
probably 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 |
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 |
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'- GCTTAGACATCAAAGTAGTGACTTG -3'
(R):5'- GGTCTGGACTGGAATCAATATTATCAG -3'
Sequencing Primer
(F):5'- AAGTAGTGACTTGAAAGAATTCCTC -3'
(R):5'- TGATCTTATCATGTACCACAAAACC -3'
|
Posted On |
2014-12-04 |