Incidental Mutation 'IGL02657:Mylip'
ID 302409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylip
Ensembl Gene ENSMUSG00000038175
Gene Name myosin regulatory light chain interacting protein
Synonyms Mir, Idol, 9430057C20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Chromosome 13
Chromosomal Location 45543218-45565498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45544722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 49 (S49G)
Ref Sequence ENSEMBL: ENSMUSP00000047403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038275] [ENSMUST00000222178]
AlphaFold Q8BM54
Predicted Effect probably benign
Transcript: ENSMUST00000038275
AA Change: S49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: S49G

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Mylip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mylip APN 13 45,562,043 (GRCm39) missense probably benign 0.03
IGL01603:Mylip APN 13 45,543,479 (GRCm39) missense probably benign 0.13
IGL01919:Mylip APN 13 45,562,178 (GRCm39) missense probably damaging 1.00
IGL02341:Mylip APN 13 45,544,752 (GRCm39) missense probably damaging 0.99
IGL03239:Mylip APN 13 45,560,101 (GRCm39) missense possibly damaging 0.89
PIT4283001:Mylip UTSW 13 45,560,110 (GRCm39) missense possibly damaging 0.46
R0482:Mylip UTSW 13 45,558,059 (GRCm39) missense probably benign 0.11
R1217:Mylip UTSW 13 45,560,178 (GRCm39) missense probably damaging 1.00
R1318:Mylip UTSW 13 45,559,401 (GRCm39) missense probably benign
R1341:Mylip UTSW 13 45,559,412 (GRCm39) missense probably damaging 0.98
R1531:Mylip UTSW 13 45,560,046 (GRCm39) missense possibly damaging 0.94
R1749:Mylip UTSW 13 45,557,946 (GRCm39) missense possibly damaging 0.46
R1942:Mylip UTSW 13 45,560,172 (GRCm39) missense probably damaging 1.00
R4384:Mylip UTSW 13 45,543,434 (GRCm39) start codon destroyed probably null 0.95
R4922:Mylip UTSW 13 45,562,238 (GRCm39) missense probably damaging 1.00
R5895:Mylip UTSW 13 45,562,178 (GRCm39) nonsense probably null
R6247:Mylip UTSW 13 45,561,957 (GRCm39) missense probably damaging 1.00
R8003:Mylip UTSW 13 45,557,947 (GRCm39) missense probably benign 0.00
R8085:Mylip UTSW 13 45,563,928 (GRCm39) missense possibly damaging 0.86
R8256:Mylip UTSW 13 45,561,833 (GRCm39) missense probably damaging 1.00
R8969:Mylip UTSW 13 45,544,820 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16