Incidental Mutation 'IGL03105:Magi2'
ID |
418897 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Magi2
|
Ensembl Gene |
ENSMUSG00000040003 |
Gene Name |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
Synonyms |
Acvrinp1, Magi-2, S-SCAM |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03105
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
19432034-20909790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20748616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 767
(D767G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142576
(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: D767G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000085872 Gene: ENSMUSG00000040003 AA Change: D767G
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
|
SMART Domains |
Protein: ENSMUSP00000099094 Gene: ENSMUSG00000040003
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: D604G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110922 Gene: ENSMUSG00000040003 AA Change: D604G
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: D767G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142576 Gene: ENSMUSG00000040003 AA Change: D767G
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
|
SMART Domains |
Protein: ENSMUSP00000142764 Gene: ENSMUSG00000040003
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 |
possibly damaging
Transcript: ENSMUST00000197553
AA Change: D377G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207284
AA Change: D72G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198908
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |