Incidental Mutation 'IGL02341:Mylip'
ID 289112
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 # IGL02341
Quality Score
Status
Chromosome 13
Chromosomal Location 45543218-45565498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45544752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 59 (R59G)
Ref Sequence ENSEMBL: ENSMUSP00000047403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038275] [ENSMUST00000222178]
AlphaFold Q8BM54
Predicted Effect probably damaging
Transcript: ENSMUST00000038275
AA Change: R59G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: R59G

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp2b10 G A 7: 25,610,667 (GRCm39) R59Q probably benign Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Dok1 T C 6: 83,010,035 (GRCm39) T25A probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nat2 A G 8: 67,954,370 (GRCm39) Y160C possibly damaging Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Sp7 T A 15: 102,267,657 (GRCm39) T50S possibly damaging Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Uggt1 A T 1: 36,203,600 (GRCm39) *47R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q 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
IGL02657:Mylip APN 13 45,544,722 (GRCm39) missense probably benign
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