Incidental Mutation 'R8256:Mylip'
ID 640566
Institutional Source Beutler Lab
Gene Symbol Mylip
Ensembl Gene ENSMUSG00000038175
Gene Name myosin regulatory light chain interacting protein
Synonyms Mir, Idol, 9430057C20Rik
MMRRC Submission 067682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8256 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 45543218-45565498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45561833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 277 (C277R)
Ref Sequence ENSEMBL: ENSMUSP00000047403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038275]
AlphaFold Q8BM54
Predicted Effect probably damaging
Transcript: ENSMUST00000038275
AA Change: C277R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: C277R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,287 (GRCm39) probably null Het
Acsbg1 A T 9: 54,525,345 (GRCm39) M402K probably damaging Het
Adamts2 T C 11: 50,683,583 (GRCm39) V955A probably benign Het
Adcy2 C T 13: 68,768,880 (GRCm39) E1083K probably damaging Het
Adgrb2 G A 4: 129,901,921 (GRCm39) A484T probably damaging Het
Adgrv1 G T 13: 81,727,679 (GRCm39) D320E probably damaging Het
Arf4 T C 14: 26,377,126 (GRCm39) S178P probably benign Het
Atg9a G A 1: 75,163,563 (GRCm39) T179I possibly damaging Het
Atp13a2 A C 4: 140,722,922 (GRCm39) Q225P possibly damaging Het
Axdnd1 T C 1: 156,158,236 (GRCm39) T1105A unknown Het
Bltp2 T A 11: 78,167,979 (GRCm39) D1471E probably benign Het
Ccdc68 G T 18: 70,072,018 (GRCm39) E32* probably null Het
Chd9 T C 8: 91,660,129 (GRCm39) V363A unknown Het
Cmya5 C T 13: 93,229,986 (GRCm39) E1701K possibly damaging Het
Def8 T C 8: 124,186,368 (GRCm39) F369S probably damaging Het
Dhx8 C T 11: 101,631,588 (GRCm39) P394S possibly damaging Het
Fbxo3 A G 2: 103,864,008 (GRCm39) R88G probably damaging Het
Gstm4 A G 3: 107,951,667 (GRCm39) probably null Het
Hira A G 16: 18,744,443 (GRCm39) T387A probably benign Het
Hspbap1 A G 16: 35,590,879 (GRCm39) T12A probably benign Het
Lipi G A 16: 75,370,950 (GRCm39) A89V probably benign Het
Lsamp A T 16: 41,965,007 (GRCm39) Y305F probably damaging Het
Ltbp1 T A 17: 75,622,236 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,393,169 (GRCm39) D1116N probably damaging Het
Mylk4 T C 13: 32,904,522 (GRCm39) D204G probably damaging Het
Ncf2 G A 1: 152,692,851 (GRCm39) probably null Het
Or2n1e T G 17: 38,586,411 (GRCm39) L250V probably damaging Het
Plekhg3 T C 12: 76,609,041 (GRCm39) L138P probably damaging Het
Pramel27 A G 4: 143,578,255 (GRCm39) R172G probably benign Het
Ptk6 T A 2: 180,837,633 (GRCm39) K429* probably null Het
Rasgrp4 T C 7: 28,842,500 (GRCm39) V258A probably damaging Het
Rp1l1 T C 14: 64,265,602 (GRCm39) L396S probably benign Het
Samd8 A T 14: 21,833,745 (GRCm39) probably null Het
Spock1 T A 13: 57,588,257 (GRCm39) I269F probably damaging Het
Tap2 A G 17: 34,435,006 (GRCm39) D683G probably benign Het
Terb1 T C 8: 105,199,579 (GRCm39) D455G possibly damaging Het
Tnfaip8l3 A G 9: 53,934,528 (GRCm39) V149A probably benign Het
Ubr7 T A 12: 102,736,170 (GRCm39) M364K probably damaging Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Zfp804a A G 2: 81,884,193 (GRCm39) N20S probably damaging Het
Zhx1 T C 15: 57,916,359 (GRCm39) K629R probably benign 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
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
R8969:Mylip UTSW 13 45,544,820 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCCATGGAGTGCTTAGCATGTAT -3'
(R):5'- GCGTTGTACAGAGCCCTCC -3'

Sequencing Primer
(F):5'- GGGTTAAAAGCCATCCTGTTCTACG -3'
(R):5'- CTCCTGGCATGGTCATAGAC -3'
Posted On 2020-07-28