Incidental Mutation 'IGL02063:Mbd5'
ID185491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Namemethyl-CpG binding domain protein 5
SynonymsC030040A15Rik, OTTMUSG00000012483, 9430004D19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02063
Quality Score
Status
Chromosome2
Chromosomal Location48949508-49325405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49274767 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 360 (N360I)
Ref Sequence ENSEMBL: ENSMUSP00000137021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717] [ENSMUST00000197712]
Predicted Effect probably damaging
Transcript: ENSMUST00000047413
AA Change: N1252I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: N1252I

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Blast:MBD 24 77 9e-11 BLAST
low complexity region 332 342 N/A INTRINSIC
low complexity region 429 443 N/A INTRINSIC
low complexity region 459 467 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
low complexity region 535 546 N/A INTRINSIC
low complexity region 571 613 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 841 852 N/A INTRINSIC
low complexity region 912 932 N/A INTRINSIC
low complexity region 934 948 N/A INTRINSIC
low complexity region 992 1010 N/A INTRINSIC
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1112 1136 N/A INTRINSIC
low complexity region 1173 1184 N/A INTRINSIC
low complexity region 1206 1229 N/A INTRINSIC
low complexity region 1552 1562 N/A INTRINSIC
SCOP:d1khca_ 1615 1718 2e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112754
AA Change: N1022I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: N1022I

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Blast:MBD 24 77 8e-11 BLAST
low complexity region 332 342 N/A INTRINSIC
low complexity region 429 443 N/A INTRINSIC
low complexity region 459 467 N/A INTRINSIC
low complexity region 499 512 N/A INTRINSIC
low complexity region 535 546 N/A INTRINSIC
low complexity region 571 613 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 841 852 N/A INTRINSIC
low complexity region 912 932 N/A INTRINSIC
low complexity region 934 948 N/A INTRINSIC
low complexity region 976 999 N/A INTRINSIC
low complexity region 1322 1332 N/A INTRINSIC
SCOP:d1khca_ 1385 1488 4e-17 SMART
Predicted Effect unknown
Transcript: ENSMUST00000122841
AA Change: N991I
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: N991I

DomainStartEndE-ValueType
low complexity region 72 82 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
low complexity region 199 207 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 275 286 N/A INTRINSIC
low complexity region 311 353 N/A INTRINSIC
low complexity region 439 459 N/A INTRINSIC
low complexity region 581 592 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
low complexity region 674 688 N/A INTRINSIC
low complexity region 732 750 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 852 876 N/A INTRINSIC
low complexity region 913 924 N/A INTRINSIC
low complexity region 946 969 N/A INTRINSIC
low complexity region 1011 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132717
AA Change: N360I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: N360I

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
low complexity region 42 56 N/A INTRINSIC
low complexity region 100 118 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
low complexity region 220 244 N/A INTRINSIC
low complexity region 281 292 N/A INTRINSIC
low complexity region 314 337 N/A INTRINSIC
low complexity region 379 390 N/A INTRINSIC
low complexity region 424 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196045
Predicted Effect probably benign
Transcript: ENSMUST00000196831
Predicted Effect probably benign
Transcript: ENSMUST00000197712
SMART Domains Protein: ENSMUSP00000143413
Gene: ENSMUSG00000036792

DomainStartEndE-ValueType
SCOP:d1khca_ 63 93 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199257
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,648,322 Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,016,023 R24G probably damaging Het
BC005624 A G 2: 30,978,934 M76T probably benign Het
Blm G T 7: 80,509,419 S323* probably null Het
Card19 C A 13: 49,203,131 G181* probably null Het
Cilp2 T C 8: 69,882,865 I494M probably damaging Het
Col5a2 A G 1: 45,403,419 probably null Het
Col6a4 T C 9: 106,057,418 D1431G probably benign Het
Cped1 G A 6: 22,138,702 C560Y probably damaging Het
Cyfip1 T C 7: 55,926,348 S1091P probably damaging Het
Ddx24 A G 12: 103,418,202 I466T probably damaging Het
Dlg2 T A 7: 91,810,476 probably benign Het
Esf1 C A 2: 140,164,457 D257Y possibly damaging Het
Fgfr2 A G 7: 130,167,755 F634S probably damaging Het
Flywch2 A G 17: 23,777,107 probably benign Het
Gbp10 A T 5: 105,236,040 I32N possibly damaging Het
Gli3 A G 13: 15,726,372 D1448G possibly damaging Het
Gm10335 T C 10: 14,523,403 probably benign Het
Gm5724 T C 6: 141,738,889 D280G probably benign Het
Golga5 A T 12: 102,472,159 E44D probably benign Het
H2-M10.1 C T 17: 36,324,009 probably benign Het
Ino80b A T 6: 83,124,162 D141E probably damaging Het
Itpr3 A G 17: 27,120,023 I2593V probably benign Het
Krt73 C T 15: 101,795,769 probably benign Het
Loxl4 G T 19: 42,608,339 L78I probably benign Het
Nfat5 A T 8: 107,361,818 M495L probably benign Het
Nrxn3 A T 12: 88,795,795 E204V possibly damaging Het
Olfr1053 G T 2: 86,314,793 F164L possibly damaging Het
Paqr4 A T 17: 23,739,912 C38* probably null Het
Pcdhb13 T A 18: 37,444,229 N553K probably damaging Het
Pcdhb9 T A 18: 37,401,757 M268K probably benign Het
Pdap1 A T 5: 145,135,059 probably benign Het
Phf2 A T 13: 48,821,642 Y281N unknown Het
Phka2 T A X: 160,564,213 I664N possibly damaging Het
Plekha7 A T 7: 116,140,701 D762E possibly damaging Het
Plekhg4 T A 8: 105,379,252 probably benign Het
Ppfia2 A T 10: 106,904,845 Q1006L probably null Het
Pramef8 C A 4: 143,417,851 Q256K probably benign Het
Prmt5 G A 14: 54,511,020 Q197* probably null Het
Prodh A T 16: 18,079,185 probably null Het
Rnft2 A G 5: 118,242,522 probably benign Het
Rp1l1 G T 14: 64,029,536 S857I probably damaging Het
Samd9l A G 6: 3,372,992 F1423S probably damaging Het
Scn3a A G 2: 65,461,510 Y1631H probably damaging Het
Slc22a5 A T 11: 53,875,073 I229K probably damaging Het
Snd1 T A 6: 28,526,221 probably benign Het
Srrm1 G T 4: 135,347,207 probably null Het
Syne2 T C 12: 76,052,100 V5252A probably damaging Het
Tek A G 4: 94,739,645 D2G probably benign Het
Uba1 T C X: 20,679,725 S803P probably damaging Het
Uggt2 A G 14: 119,089,193 I202T possibly damaging Het
Umodl1 A T 17: 30,987,914 I760F probably benign Het
Vgll1 A G X: 57,099,209 probably benign Het
Zadh2 T A 18: 84,095,265 Y355* probably null Het
Zfp236 A G 18: 82,658,151 V347A probably benign Het
Zswim9 T C 7: 13,260,681 E516G probably damaging Het
Other mutations in Mbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Mbd5 APN 2 49250221 missense possibly damaging 0.92
IGL01481:Mbd5 APN 2 49278939 missense possibly damaging 0.90
IGL01639:Mbd5 APN 2 49272308 missense probably damaging 0.98
IGL02157:Mbd5 APN 2 49278975 missense probably benign
IGL02510:Mbd5 APN 2 49257029 missense probably benign 0.05
IGL02932:Mbd5 APN 2 49279448 missense possibly damaging 0.66
IGL02973:Mbd5 APN 2 49313709 missense probably damaging 0.99
IGL03189:Mbd5 APN 2 49257751 missense probably damaging 0.98
F5770:Mbd5 UTSW 2 49316410 missense probably damaging 0.99
R0391:Mbd5 UTSW 2 49272416 missense possibly damaging 0.90
R0427:Mbd5 UTSW 2 49279079 missense probably benign 0.27
R0544:Mbd5 UTSW 2 49257209 missense possibly damaging 0.54
R0883:Mbd5 UTSW 2 49256689 missense possibly damaging 0.94
R1072:Mbd5 UTSW 2 49257191 missense probably damaging 1.00
R1099:Mbd5 UTSW 2 49258144 missense probably benign 0.06
R1400:Mbd5 UTSW 2 49274776 critical splice donor site probably null
R1497:Mbd5 UTSW 2 49257381 missense possibly damaging 0.73
R1552:Mbd5 UTSW 2 49272934 missense probably damaging 0.99
R1675:Mbd5 UTSW 2 49256218 missense possibly damaging 0.90
R1710:Mbd5 UTSW 2 49257032 missense probably benign 0.10
R2085:Mbd5 UTSW 2 49279311 missense possibly damaging 0.90
R2252:Mbd5 UTSW 2 49257686 missense probably damaging 1.00
R2473:Mbd5 UTSW 2 49279341 missense probably benign 0.06
R3966:Mbd5 UTSW 2 49272070 missense possibly damaging 0.46
R4278:Mbd5 UTSW 2 49272293 missense probably damaging 0.97
R4348:Mbd5 UTSW 2 49256327 missense probably benign
R4366:Mbd5 UTSW 2 49272966 missense probably damaging 0.99
R4428:Mbd5 UTSW 2 49279764 missense possibly damaging 0.94
R4556:Mbd5 UTSW 2 49279394 missense probably damaging 1.00
R4600:Mbd5 UTSW 2 49257197 missense probably benign 0.31
R4689:Mbd5 UTSW 2 49258279 missense possibly damaging 0.46
R4707:Mbd5 UTSW 2 49250156 missense probably damaging 0.99
R4718:Mbd5 UTSW 2 49256402 missense possibly damaging 0.66
R4773:Mbd5 UTSW 2 49274611 missense probably damaging 1.00
R4846:Mbd5 UTSW 2 49256997 missense probably damaging 1.00
R5015:Mbd5 UTSW 2 49258196 missense possibly damaging 0.92
R5059:Mbd5 UTSW 2 49256455 missense probably damaging 0.96
R5268:Mbd5 UTSW 2 49272094 missense possibly damaging 0.92
R5479:Mbd5 UTSW 2 49272905 missense probably damaging 0.99
R5579:Mbd5 UTSW 2 49272814 missense possibly damaging 0.94
R5591:Mbd5 UTSW 2 49274669 missense probably damaging 1.00
R5876:Mbd5 UTSW 2 49274645 missense probably damaging 0.98
R5886:Mbd5 UTSW 2 49272452 missense probably damaging 1.00
R5973:Mbd5 UTSW 2 49272389 missense probably benign 0.23
R6935:Mbd5 UTSW 2 49279812 missense probably damaging 0.97
R7317:Mbd5 UTSW 2 49279743 missense probably benign
V7583:Mbd5 UTSW 2 49316410 missense probably damaging 0.99
Posted On2014-05-07