Incidental Mutation 'IGL01520:Mecp2'
ID 90470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mecp2
Ensembl Gene ENSMUSG00000031393
Gene Name methyl CpG binding protein 2
Synonyms WBP10, D630021H01Rik, 1500041B07Rik, Mbd5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # IGL01520
Quality Score
Status
Chromosome X
Chromosomal Location 73070198-73129296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73079447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 344 (R344L)
Ref Sequence ENSEMBL: ENSMUSP00000127115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033770] [ENSMUST00000100750] [ENSMUST00000123362] [ENSMUST00000140399] [ENSMUST00000170481]
AlphaFold Q9Z2D6
Predicted Effect unknown
Transcript: ENSMUST00000033770
AA Change: R361L
SMART Domains Protein: ENSMUSP00000033770
Gene: ENSMUSG00000031393
AA Change: R361L

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 40 61 N/A INTRINSIC
low complexity region 82 98 N/A INTRINSIC
MBD 109 186 7.34e-36 SMART
AT_hook 202 214 5.16e0 SMART
low complexity region 248 255 N/A INTRINSIC
AT_hook 282 294 1.2e2 SMART
low complexity region 357 420 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100750
AA Change: R344L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098314
Gene: ENSMUSG00000031393
AA Change: R344L

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
MBD 92 169 7.34e-36 SMART
AT_hook 185 197 5.16e0 SMART
low complexity region 231 238 N/A INTRINSIC
AT_hook 265 277 1.2e2 SMART
low complexity region 340 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123362
SMART Domains Protein: ENSMUSP00000118842
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
MBD 92 166 1.19e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140399
SMART Domains Protein: ENSMUSP00000119947
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 40 61 N/A INTRINSIC
low complexity region 82 98 N/A INTRINSIC
MBD 109 183 1.19e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170481
AA Change: R344L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127115
Gene: ENSMUSG00000031393
AA Change: R344L

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
MBD 92 169 7.34e-36 SMART
AT_hook 185 197 5.16e0 SMART
low complexity region 231 238 N/A INTRINSIC
AT_hook 265 277 1.2e2 SMART
low complexity region 340 403 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Female mice homozygous or male mice hemizygous for a null allele exhibit premature death, behavioral and neurological abnormalities, abnormal nervous system phenotypes, abnormal breathing, and abnormal hearing. Heterozygous mice exhibit similar behavioral and neurological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,734,318 (GRCm39) H58Q probably damaging Het
Atp6v1c2 A T 12: 17,347,754 (GRCm39) L149Q probably damaging Het
Bltp1 T A 3: 37,027,409 (GRCm39) Y2265* probably null Het
Cd40lg A G X: 56,265,148 (GRCm39) N132D probably benign Het
Cemip G T 7: 83,597,830 (GRCm39) T1060K probably benign Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Ces5a A T 8: 94,246,206 (GRCm39) S328T probably benign Het
Cfap70 A G 14: 20,470,755 (GRCm39) C497R probably benign Het
Cndp2 T C 18: 84,686,732 (GRCm39) K430R probably benign Het
Cplane1 C A 15: 8,251,395 (GRCm39) T1889K probably damaging Het
Crlf3 T C 11: 79,950,972 (GRCm39) D126G probably benign Het
Cxcr1 A T 1: 74,231,434 (GRCm39) L196Q probably damaging Het
E330013P04Rik A G 19: 60,150,329 (GRCm39) noncoding transcript Het
Erbb2 C T 11: 98,324,835 (GRCm39) H810Y probably benign Het
Fmn1 C A 2: 113,274,713 (GRCm39) probably benign Het
Fpr3 A G 17: 18,191,325 (GRCm39) T199A possibly damaging Het
Gcsh A G 8: 117,710,688 (GRCm39) probably benign Het
Gm10073 T A 8: 107,299,901 (GRCm39) I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 (GRCm39) Q456K probably damaging Het
Hgs C A 11: 120,369,174 (GRCm39) P317T probably damaging Het
Inmt C A 6: 55,148,213 (GRCm39) V139F probably damaging Het
Kcnma1 C A 14: 23,551,211 (GRCm39) M460I possibly damaging Het
Map9 A T 3: 82,286,272 (GRCm39) N359I probably damaging Het
Mavs T C 2: 131,087,263 (GRCm39) S254P probably benign Het
Mcts1 T A X: 37,700,636 (GRCm39) probably benign Het
Or1e32 T G 11: 73,705,612 (GRCm39) T99P probably damaging Het
Or4z4 A G 19: 12,077,000 (GRCm39) M1T probably null Het
Or5b3 G T 19: 13,388,114 (GRCm39) M60I probably damaging Het
Or8g36 T C 9: 39,422,342 (GRCm39) I225V possibly damaging Het
Or8g54 T G 9: 39,706,674 (GRCm39) M1R probably null Het
Or9g4 T C 2: 85,504,701 (GRCm39) T265A probably benign Het
Rasgrp1 T C 2: 117,119,144 (GRCm39) I498V probably damaging Het
Rbbp6 T A 7: 122,584,898 (GRCm39) S185T possibly damaging Het
Rd3 A T 1: 191,717,283 (GRCm39) H251L possibly damaging Het
Rnf180 T A 13: 105,386,864 (GRCm39) D148V probably damaging Het
Rnf43 C A 11: 87,555,542 (GRCm39) A34E probably damaging Het
Rslcan18 A G 13: 67,250,172 (GRCm39) V21A probably benign Het
Septin9 T C 11: 117,243,469 (GRCm39) V128A probably damaging Het
Slc36a1 A G 11: 55,110,482 (GRCm39) H103R probably benign Het
Spata6l A T 19: 28,873,532 (GRCm39) probably null Het
Ssh2 A G 11: 77,340,732 (GRCm39) D628G probably damaging Het
Tlcd3a T C 11: 76,098,051 (GRCm39) probably null Het
Tmem119 A G 5: 113,933,546 (GRCm39) F85S probably damaging Het
Tpp1 A T 7: 105,396,936 (GRCm39) I398N probably benign Het
Ttc3 T C 16: 94,191,066 (GRCm39) Y203H probably benign Het
Vars1 G T 17: 35,232,849 (GRCm39) V898L probably benign Het
Vmn1r85 A C 7: 12,819,081 (GRCm39) V21G probably damaging Het
Zfp521 T C 18: 14,072,045 (GRCm39) H65R possibly damaging Het
Other mutations in Mecp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1387:Mecp2 UTSW X 73,079,394 (GRCm39) missense possibly damaging 0.93
R1888:Mecp2 UTSW X 73,080,781 (GRCm39) missense probably damaging 1.00
R1888:Mecp2 UTSW X 73,080,781 (GRCm39) missense probably damaging 1.00
R1891:Mecp2 UTSW X 73,080,781 (GRCm39) missense probably damaging 1.00
R1894:Mecp2 UTSW X 73,080,781 (GRCm39) missense probably damaging 1.00
R5890:Mecp2 UTSW X 73,079,043 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09