Incidental Mutation 'IGL01919:Mylip'
ID180049
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? Possibly essential (E-score: 0.686) question?
Stock #IGL01919
Quality Score
Status
Chromosome13
Chromosomal Location45389742-45412022 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45408702 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 327 (E327K)
Ref Sequence ENSEMBL: ENSMUSP00000152597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038275] [ENSMUST00000222178]
Predicted Effect probably damaging
Transcript: ENSMUST00000038275
AA Change: E392K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: E392K

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 damaging
Transcript: ENSMUST00000222178
AA Change: E327K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,475,523 probably null Het
Alms1 T C 6: 85,628,004 F2212S possibly damaging Het
Anpep T C 7: 79,825,350 I155V possibly damaging Het
Aoc1 G A 6: 48,908,289 V653M probably damaging Het
Arl8b T C 6: 108,821,557 probably benign Het
Bax A C 7: 45,466,128 probably null Het
Cpne7 G A 8: 123,125,643 E195K probably damaging Het
Csmd3 A G 15: 47,675,772 I2330T possibly damaging Het
Dnajc16 A G 4: 141,774,629 S297P probably benign Het
Farp2 A G 1: 93,576,433 K311E probably damaging Het
Fhad1 A G 4: 141,964,595 L410P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12185 T C 11: 48,908,059 T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hydin C T 8: 110,519,174 T2173I possibly damaging Het
Kpnb1 A G 11: 97,164,730 V783A probably benign Het
Krt1 A G 15: 101,846,376 V509A unknown Het
Lrwd1 A T 5: 136,135,875 L26* probably null Het
Mal2 T A 15: 54,588,332 W50R probably damaging Het
Map3k21 A T 8: 125,942,132 E819V probably damaging Het
Mrgprx3-ps T C 7: 47,310,211 T11A probably benign Het
Mroh2b T C 15: 4,923,688 F635L probably benign Het
Nfix T C 8: 84,726,474 D308G probably damaging Het
Olfr355 G A 2: 36,927,812 Q101* probably null Het
Olfr857 G A 9: 19,713,342 V172I probably benign Het
Psma6 A G 12: 55,407,469 E26G probably damaging Het
Rgs16 T A 1: 153,742,058 S105T probably damaging Het
Slc25a23 T A 17: 57,047,291 N372Y possibly damaging Het
Slc35e2 A G 4: 155,612,730 M234V probably benign Het
Tbc1d8 A G 1: 39,392,253 V346A probably damaging Het
Tgfb1i1 C T 7: 128,248,482 probably benign Het
Triml2 A C 8: 43,190,312 T177P probably damaging Het
Uba6 T C 5: 86,119,386 T959A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Mylip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mylip APN 13 45408567 missense probably benign 0.03
IGL01603:Mylip APN 13 45390003 missense probably benign 0.13
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
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
Posted On2014-05-07