Incidental Mutation 'IGL00938:Mpp7'
ID 29424
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, 1110068J02Rik, 5430426E14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL00938
Quality Score
Status
Chromosome 18
Chromosomal Location 7347962-7626863 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7353297 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 470 (T470A)
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: T470A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111535
Gene: ENSMUSG00000057440
AA Change: T470A

DomainStartEndE-ValueType
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,342,278 I909V possibly damaging Het
Alkal2 C A 12: 30,887,090 H101N probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Col4a1 G A 8: 11,236,456 probably benign Het
Fry T A 5: 150,370,180 V446E probably damaging Het
Gpc2 C A 5: 138,278,907 R86L probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krt16 A T 11: 100,248,717 C58* probably null Het
Ltbp2 T C 12: 84,831,799 R309G probably benign Het
Mapkapk5 T C 5: 121,537,103 probably benign Het
Mpdz G A 4: 81,292,512 A1665V probably damaging Het
Mypn T A 10: 63,192,423 D287V probably damaging Het
Nup160 T C 2: 90,732,827 L1312P probably damaging Het
Olfr1250 C T 2: 89,657,076 V122M probably damaging Het
Olfr427 T C 1: 174,100,367 M303T probably benign Het
Poln C A 5: 34,129,224 C200F probably damaging Het
Pparg A G 6: 115,463,139 I225V probably benign Het
Pspn T C 17: 56,999,629 E100G probably benign Het
Slc12a8 G A 16: 33,540,897 V50I probably damaging Het
Suz12 A G 11: 80,007,569 probably benign Het
Ubiad1 A G 4: 148,436,357 F270S probably benign Het
Vmn1r185 T C 7: 26,611,691 I130V probably benign Het
Vmn1r210 A T 13: 22,827,368 C249* probably null Het
Other mutations in Mpp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Mpp7 APN 18 7403365 splice site probably benign
IGL02973:Mpp7 APN 18 7403297 missense probably damaging 1.00
IGL02985:Mpp7 APN 18 7461637 critical splice donor site probably null
IGL03224:Mpp7 APN 18 7403269 missense probably benign 0.28
IGL03248:Mpp7 APN 18 7403269 missense probably benign 0.28
R0040:Mpp7 UTSW 18 7403180 splice site probably benign
R0089:Mpp7 UTSW 18 7439555 splice site probably benign
R1413:Mpp7 UTSW 18 7350977 missense probably damaging 1.00
R1634:Mpp7 UTSW 18 7350984 missense possibly damaging 0.63
R1859:Mpp7 UTSW 18 7350967 makesense probably null
R2379:Mpp7 UTSW 18 7403345 nonsense probably null
R2869:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2869:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2871:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R2871:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3008:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3009:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3010:Mpp7 UTSW 18 7461678 missense possibly damaging 0.76
R3782:Mpp7 UTSW 18 7351085 missense probably damaging 0.99
R3980:Mpp7 UTSW 18 7444062 missense probably benign 0.23
R4574:Mpp7 UTSW 18 7353228 missense probably benign 0.02
R4772:Mpp7 UTSW 18 7379983 splice site probably null
R5066:Mpp7 UTSW 18 7513002 missense possibly damaging 0.95
R5437:Mpp7 UTSW 18 7458930 critical splice donor site probably null
R5451:Mpp7 UTSW 18 7442855 missense probably null 0.95
R5578:Mpp7 UTSW 18 7355101 missense probably benign
R5651:Mpp7 UTSW 18 7355016 critical splice donor site probably null
R5787:Mpp7 UTSW 18 7461682 missense probably benign
R6979:Mpp7 UTSW 18 7355049 missense possibly damaging 0.64
R6984:Mpp7 UTSW 18 7441623 missense probably damaging 1.00
R7448:Mpp7 UTSW 18 7351079 missense probably damaging 0.98
R7517:Mpp7 UTSW 18 7440183 nonsense probably null
R8278:Mpp7 UTSW 18 7444025 missense probably benign
R8373:Mpp7 UTSW 18 7444096 missense probably damaging 1.00
R8676:Mpp7 UTSW 18 7440430 critical splice donor site probably null
R9206:Mpp7 UTSW 18 7403327 missense probably benign 0.12
R9208:Mpp7 UTSW 18 7403327 missense probably benign 0.12
R9439:Mpp7 UTSW 18 7461692 nonsense probably null
R9790:Mpp7 UTSW 18 7355049 missense probably benign 0.07
R9791:Mpp7 UTSW 18 7355049 missense probably benign 0.07
X0028:Mpp7 UTSW 18 7403273 missense probably benign 0.04
Z1177:Mpp7 UTSW 18 7355062 missense probably damaging 0.99
Posted On 2013-04-17