Incidental Mutation 'IGL03248:Mpp7'
ID |
414483 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mpp7
|
Ensembl Gene |
ENSMUSG00000057440 |
Gene Name |
membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) |
Synonyms |
2810038M04Rik, LOC381166, 5430426E14Rik, 1110068J02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
IGL03248
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
7347959-7626866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7403269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115869
AA Change: D347G
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000111535 Gene: ENSMUSG00000057440 AA Change: D347G
Domain | Start | End | E-Value | Type |
L27
|
10 |
68 |
7.05e-14 |
SMART |
L27
|
72 |
125 |
3.72e-13 |
SMART |
PDZ
|
147 |
220 |
3.8e-15 |
SMART |
SH3
|
231 |
297 |
1.4e-11 |
SMART |
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
GuKc
|
367 |
563 |
4.01e-65 |
SMART |
|
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 is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
Het |
|
Other mutations in Mpp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00938:Mpp7
|
APN |
18 |
7,353,297 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01575:Mpp7
|
APN |
18 |
7,403,365 (GRCm39) |
splice site |
probably benign |
|
IGL02973:Mpp7
|
APN |
18 |
7,403,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02985:Mpp7
|
APN |
18 |
7,461,637 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03224:Mpp7
|
APN |
18 |
7,403,269 (GRCm39) |
missense |
probably benign |
0.28 |
R0040:Mpp7
|
UTSW |
18 |
7,403,180 (GRCm39) |
splice site |
probably benign |
|
R0089:Mpp7
|
UTSW |
18 |
7,439,555 (GRCm39) |
splice site |
probably benign |
|
R1413:Mpp7
|
UTSW |
18 |
7,350,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Mpp7
|
UTSW |
18 |
7,350,984 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1859:Mpp7
|
UTSW |
18 |
7,350,967 (GRCm39) |
makesense |
probably null |
|
R2379:Mpp7
|
UTSW |
18 |
7,403,345 (GRCm39) |
nonsense |
probably null |
|
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2869:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2871:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3008:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3009:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3010:Mpp7
|
UTSW |
18 |
7,461,678 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3782:Mpp7
|
UTSW |
18 |
7,351,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R3980:Mpp7
|
UTSW |
18 |
7,444,062 (GRCm39) |
missense |
probably benign |
0.23 |
R4574:Mpp7
|
UTSW |
18 |
7,353,228 (GRCm39) |
missense |
probably benign |
0.02 |
R4772:Mpp7
|
UTSW |
18 |
7,379,983 (GRCm39) |
splice site |
probably null |
|
R5066:Mpp7
|
UTSW |
18 |
7,513,002 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5437:Mpp7
|
UTSW |
18 |
7,458,930 (GRCm39) |
critical splice donor site |
probably null |
|
R5451:Mpp7
|
UTSW |
18 |
7,442,855 (GRCm39) |
missense |
probably null |
0.95 |
R5578:Mpp7
|
UTSW |
18 |
7,355,101 (GRCm39) |
missense |
probably benign |
|
R5651:Mpp7
|
UTSW |
18 |
7,355,016 (GRCm39) |
critical splice donor site |
probably null |
|
R5787:Mpp7
|
UTSW |
18 |
7,461,682 (GRCm39) |
missense |
probably benign |
|
R6979:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6984:Mpp7
|
UTSW |
18 |
7,441,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Mpp7
|
UTSW |
18 |
7,351,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R7517:Mpp7
|
UTSW |
18 |
7,440,183 (GRCm39) |
nonsense |
probably null |
|
R8278:Mpp7
|
UTSW |
18 |
7,444,025 (GRCm39) |
missense |
probably benign |
|
R8373:Mpp7
|
UTSW |
18 |
7,444,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Mpp7
|
UTSW |
18 |
7,440,430 (GRCm39) |
critical splice donor site |
probably null |
|
R9206:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm39) |
missense |
probably benign |
0.12 |
R9208:Mpp7
|
UTSW |
18 |
7,403,327 (GRCm39) |
missense |
probably benign |
0.12 |
R9439:Mpp7
|
UTSW |
18 |
7,461,692 (GRCm39) |
nonsense |
probably null |
|
R9790:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
probably benign |
0.07 |
R9791:Mpp7
|
UTSW |
18 |
7,355,049 (GRCm39) |
missense |
probably benign |
0.07 |
X0028:Mpp7
|
UTSW |
18 |
7,403,273 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Mpp7
|
UTSW |
18 |
7,355,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |