Incidental Mutation 'IGL00429:Mylip'
ID4311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylip
Ensembl Gene ENSMUSG00000038175
Gene Namemyosin regulatory light chain interacting protein
SynonymsMir, 9430057C20Rik, Idol
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00429
Quality Score
Status
Chromosome13
Chromosomal Location45389742-45412022 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45408567 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 282 (P282T)
Ref Sequence ENSEMBL: ENSMUSP00000152597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038275] [ENSMUST00000222178]
Predicted Effect probably benign
Transcript: ENSMUST00000038275
AA Change: P347T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: P347T

DomainStartEndE-ValueType
B41 1 190 2.85e-36 SMART
FERM_C 194 283 1.87e-16 SMART
low complexity region 342 368 N/A INTRINSIC
RING 387 421 2.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222178
AA Change: P282T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Mylip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Mylip APN 13 45390003 missense probably benign 0.13
IGL01919:Mylip APN 13 45408702 missense probably damaging 1.00
IGL02341:Mylip APN 13 45391276 missense probably damaging 0.99
IGL02657:Mylip APN 13 45391246 missense probably benign
IGL03239:Mylip APN 13 45406625 missense possibly damaging 0.89
PIT4283001:Mylip UTSW 13 45406634 missense possibly damaging 0.46
R0482:Mylip UTSW 13 45404583 missense probably benign 0.11
R1217:Mylip UTSW 13 45406702 missense probably damaging 1.00
R1318:Mylip UTSW 13 45405925 missense probably benign
R1341:Mylip UTSW 13 45405936 missense probably damaging 0.98
R1531:Mylip UTSW 13 45406570 missense possibly damaging 0.94
R1749:Mylip UTSW 13 45404470 missense possibly damaging 0.46
R1942:Mylip UTSW 13 45406696 missense probably damaging 1.00
R4384:Mylip UTSW 13 45389958 start codon destroyed probably null 0.95
R4922:Mylip UTSW 13 45408762 missense probably damaging 1.00
R5895:Mylip UTSW 13 45408702 nonsense probably null
R6247:Mylip UTSW 13 45408481 missense probably damaging 1.00
R8003:Mylip UTSW 13 45404471 missense probably benign 0.00
R8085:Mylip UTSW 13 45410452 missense possibly damaging 0.86
R8256:Mylip UTSW 13 45408357 missense probably damaging 1.00
Posted On2012-04-20