Incidental Mutation 'IGL01520:Mecp2'
ID90470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mecp2
Ensembl Gene ENSMUSG00000031393
Gene Namemethyl CpG binding protein 2
Synonyms1500041B07Rik, D630021H01Rik, WBP10, Mbd5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.600) question?
Stock #IGL01520
Quality Score
Status
ChromosomeX
Chromosomal Location74026592-74135363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 74035841 bp
ZygosityHeterozygous
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]
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
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Atp6v1c2 A T 12: 17,297,753 L149Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cfap70 A G 14: 20,420,687 C497R probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
Cxcr1 A T 1: 74,192,275 L196Q probably damaging Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fmn1 C A 2: 113,444,368 probably benign Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Rslcan18 A G 13: 67,102,108 V21A probably benign Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Mecp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1387:Mecp2 UTSW X 74035788 missense possibly damaging 0.93
R1888:Mecp2 UTSW X 74037175 missense probably damaging 1.00
R1888:Mecp2 UTSW X 74037175 missense probably damaging 1.00
R1891:Mecp2 UTSW X 74037175 missense probably damaging 1.00
R1894:Mecp2 UTSW X 74037175 missense probably damaging 1.00
R5890:Mecp2 UTSW X 74035437 missense probably damaging 1.00
Posted On2013-12-09