Incidental Mutation 'F5770:Mbd5'
ID 271551
Institutional Source Beutler Lab
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Name methyl-CpG binding domain protein 5
Synonyms OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # F5770 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 48839511-49209702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49206422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1713 (D1713G)
Ref Sequence ENSEMBL: ENSMUSP00000036847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717] [ENSMUST00000197712]
AlphaFold B1AYB6
Predicted Effect probably damaging
Transcript: ENSMUST00000047413
AA Change: D1713G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: D1713G

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 possibly damaging
Transcript: ENSMUST00000112754
AA Change: D1483G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: D1483G

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 probably damaging
Transcript: ENSMUST00000122841
AA Change: D1051G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: D1051G

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 possibly damaging
Transcript: ENSMUST00000132717
AA Change: D420G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: D420G

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 unknown
Transcript: ENSMUST00000196831
AA Change: D61G
Predicted Effect probably benign
Transcript: ENSMUST00000197712
SMART Domains Protein: ENSMUSP00000143413
Gene: ENSMUSG00000036792

DomainStartEndE-ValueType
SCOP:d1khca_ 63 93 1e-7 SMART
Meta Mutation Damage Score 0.1401 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (96/97)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Abcb5 T A 12: 118,849,914 (GRCm39) M950L probably benign Het
Ahcy G A 2: 154,906,841 (GRCm39) R151* probably null Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Camk2g T C 14: 20,789,380 (GRCm39) probably benign Het
Casp8ap2 C T 4: 32,639,944 (GRCm39) H333Y probably benign Het
Cd36 ACTGTCTGT ACTGT 5: 18,025,526 (GRCm39) probably null Het
Cdc42bpb C T 12: 111,262,825 (GRCm39) G1501S probably benign Het
Cfi T A 3: 129,648,641 (GRCm39) I175K possibly damaging Het
Clasp1 G A 1: 118,509,078 (GRCm39) R1027Q probably damaging Het
D630003M21Rik T C 2: 158,042,931 (GRCm39) T870A probably benign Het
Dcaf4 C A 12: 83,584,475 (GRCm39) probably null Het
Dnah12 T A 14: 26,495,050 (GRCm39) N1369K possibly damaging Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fbrsl1 C T 5: 110,527,292 (GRCm39) A129T possibly damaging Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gdap1l1 C T 2: 163,289,406 (GRCm39) probably benign Het
Glrx3 A G 7: 137,060,882 (GRCm39) H172R probably benign Het
Gm10770 T A 2: 150,021,404 (GRCm39) K38* probably null Het
Gm20517 G A 17: 47,929,757 (GRCm39) V65M probably damaging Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Golga4 A G 9: 118,385,143 (GRCm39) E727G possibly damaging Het
Got1 T A 19: 43,489,000 (GRCm39) probably benign Het
Heatr5a A G 12: 51,928,061 (GRCm39) probably benign Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Hnrnpab A T 11: 51,493,451 (GRCm39) N252K probably benign Het
Ing1 T C 8: 11,611,934 (GRCm39) V124A probably damaging Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Klc1 A T 12: 111,741,006 (GRCm39) I161F probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Lrrc37a T G 11: 103,346,338 (GRCm39) N3176T possibly damaging Het
Mctp2 T A 7: 71,771,499 (GRCm39) probably benign Het
Muc6 T G 7: 141,233,880 (GRCm39) E808A probably benign Het
Mylk G T 16: 34,815,574 (GRCm39) probably null Het
Myrfl T C 10: 116,697,435 (GRCm39) T30A probably damaging Het
Nbeal2 A G 9: 110,467,005 (GRCm39) V670A possibly damaging Het
Nphp3 T C 9: 103,913,093 (GRCm39) probably null Het
Numbl T C 7: 26,979,027 (GRCm39) S379P probably benign Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Or5an6 G A 19: 12,371,914 (GRCm39) V96I probably benign Het
Or5p57 G T 7: 107,665,885 (GRCm39) T40K probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pigx T C 16: 31,906,240 (GRCm39) D129G probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Plekhb1 T C 7: 100,303,825 (GRCm39) T112A probably benign Het
Ppwd1 A G 13: 104,356,745 (GRCm39) Y257H probably damaging Het
Prkcb G T 7: 122,127,699 (GRCm39) W274C probably damaging Het
Rabep1 T C 11: 70,828,342 (GRCm39) probably benign Het
Ralgapa1 G A 12: 55,842,438 (GRCm39) probably benign Het
Rasa1 A G 13: 85,375,064 (GRCm39) probably null Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Recql4 T C 15: 76,590,369 (GRCm39) D705G possibly damaging Het
Ror1 A G 4: 100,298,130 (GRCm39) Q501R probably damaging Het
Rundc3b TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 5: 8,672,549 (GRCm39) probably benign Het
Sirpb1b A G 3: 15,568,243 (GRCm39) V366A probably benign Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Slc5a6 C T 5: 31,199,957 (GRCm39) probably null Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Spata31 C A 13: 65,069,462 (GRCm39) P537T probably benign Het
Sptbn2 C T 19: 4,800,660 (GRCm39) R2292C probably damaging Het
Thbd A T 2: 148,249,110 (GRCm39) Y253N probably benign Het
Tiam1 C T 16: 89,662,159 (GRCm39) R653H probably damaging Het
Tmc3 T C 7: 83,271,713 (GRCm39) V955A probably benign Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Trps1 T C 15: 50,694,973 (GRCm39) K150E probably damaging Het
Tspyl3 A G 2: 153,066,980 (GRCm39) V86A probably benign Het
Ttc23 T C 7: 67,359,063 (GRCm39) probably benign Het
Ttc36 A T 9: 44,713,094 (GRCm39) probably benign Het
Tubb3 C T 8: 124,138,414 (GRCm39) probably benign Het
Vmn2r68 C T 7: 84,871,088 (GRCm39) V732I probably benign Het
Vps18 A G 2: 119,127,709 (GRCm39) Y844C probably benign Het
Wdr72 T A 9: 74,064,552 (GRCm39) I528N probably damaging Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp606 T G 7: 12,215,123 (GRCm39) probably benign Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging Het
Zmynd8 G A 2: 165,654,314 (GRCm39) R724* probably null Het
Other mutations in Mbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Mbd5 APN 2 49,140,233 (GRCm39) missense possibly damaging 0.92
IGL01481:Mbd5 APN 2 49,168,951 (GRCm39) missense possibly damaging 0.90
IGL01639:Mbd5 APN 2 49,162,320 (GRCm39) missense probably damaging 0.98
IGL02063:Mbd5 APN 2 49,164,779 (GRCm39) missense probably damaging 1.00
IGL02157:Mbd5 APN 2 49,168,987 (GRCm39) missense probably benign
IGL02510:Mbd5 APN 2 49,147,041 (GRCm39) missense probably benign 0.05
IGL02932:Mbd5 APN 2 49,169,460 (GRCm39) missense possibly damaging 0.66
IGL02973:Mbd5 APN 2 49,203,721 (GRCm39) missense probably damaging 0.99
IGL03189:Mbd5 APN 2 49,147,763 (GRCm39) missense probably damaging 0.98
BB003:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
BB013:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
R0391:Mbd5 UTSW 2 49,162,428 (GRCm39) missense possibly damaging 0.90
R0427:Mbd5 UTSW 2 49,169,091 (GRCm39) missense probably benign 0.27
R0544:Mbd5 UTSW 2 49,147,221 (GRCm39) missense possibly damaging 0.54
R0883:Mbd5 UTSW 2 49,146,701 (GRCm39) missense possibly damaging 0.94
R1072:Mbd5 UTSW 2 49,147,203 (GRCm39) missense probably damaging 1.00
R1099:Mbd5 UTSW 2 49,148,156 (GRCm39) missense probably benign 0.06
R1400:Mbd5 UTSW 2 49,164,788 (GRCm39) critical splice donor site probably null
R1497:Mbd5 UTSW 2 49,147,393 (GRCm39) missense possibly damaging 0.73
R1552:Mbd5 UTSW 2 49,162,946 (GRCm39) missense probably damaging 0.99
R1675:Mbd5 UTSW 2 49,146,230 (GRCm39) missense possibly damaging 0.90
R1710:Mbd5 UTSW 2 49,147,044 (GRCm39) missense probably benign 0.10
R2085:Mbd5 UTSW 2 49,169,323 (GRCm39) missense possibly damaging 0.90
R2252:Mbd5 UTSW 2 49,147,698 (GRCm39) missense probably damaging 1.00
R2473:Mbd5 UTSW 2 49,169,353 (GRCm39) missense probably benign 0.06
R3966:Mbd5 UTSW 2 49,162,082 (GRCm39) missense possibly damaging 0.46
R4278:Mbd5 UTSW 2 49,162,305 (GRCm39) missense probably damaging 0.97
R4348:Mbd5 UTSW 2 49,146,339 (GRCm39) missense probably benign
R4366:Mbd5 UTSW 2 49,162,978 (GRCm39) missense probably damaging 0.99
R4428:Mbd5 UTSW 2 49,169,776 (GRCm39) missense possibly damaging 0.94
R4556:Mbd5 UTSW 2 49,169,406 (GRCm39) missense probably damaging 1.00
R4600:Mbd5 UTSW 2 49,147,209 (GRCm39) missense probably benign 0.31
R4689:Mbd5 UTSW 2 49,148,291 (GRCm39) missense possibly damaging 0.46
R4707:Mbd5 UTSW 2 49,140,168 (GRCm39) missense probably damaging 0.99
R4718:Mbd5 UTSW 2 49,146,414 (GRCm39) missense possibly damaging 0.66
R4773:Mbd5 UTSW 2 49,164,623 (GRCm39) missense probably damaging 1.00
R4846:Mbd5 UTSW 2 49,147,009 (GRCm39) missense probably damaging 1.00
R5015:Mbd5 UTSW 2 49,148,208 (GRCm39) missense possibly damaging 0.92
R5059:Mbd5 UTSW 2 49,146,467 (GRCm39) missense probably damaging 0.96
R5268:Mbd5 UTSW 2 49,162,106 (GRCm39) missense possibly damaging 0.92
R5479:Mbd5 UTSW 2 49,162,917 (GRCm39) missense probably damaging 0.99
R5579:Mbd5 UTSW 2 49,162,826 (GRCm39) missense possibly damaging 0.94
R5591:Mbd5 UTSW 2 49,164,681 (GRCm39) missense probably damaging 1.00
R5876:Mbd5 UTSW 2 49,164,657 (GRCm39) missense probably damaging 0.98
R5886:Mbd5 UTSW 2 49,162,464 (GRCm39) missense probably damaging 1.00
R5973:Mbd5 UTSW 2 49,162,401 (GRCm39) missense probably benign 0.23
R6935:Mbd5 UTSW 2 49,169,824 (GRCm39) missense probably damaging 0.97
R7317:Mbd5 UTSW 2 49,169,755 (GRCm39) missense probably benign
R7366:Mbd5 UTSW 2 49,164,580 (GRCm39) missense probably benign
R7385:Mbd5 UTSW 2 49,162,461 (GRCm39) missense probably benign 0.01
R7402:Mbd5 UTSW 2 49,147,566 (GRCm39) missense probably damaging 1.00
R7462:Mbd5 UTSW 2 49,147,892 (GRCm39) missense possibly damaging 0.52
R7549:Mbd5 UTSW 2 49,141,355 (GRCm39) missense probably damaging 0.97
R7916:Mbd5 UTSW 2 49,147,118 (GRCm39) missense probably damaging 0.99
R7926:Mbd5 UTSW 2 49,146,335 (GRCm39) missense probably damaging 0.99
R7960:Mbd5 UTSW 2 49,169,796 (GRCm39) critical splice donor site probably null
R8273:Mbd5 UTSW 2 49,168,891 (GRCm39) missense probably damaging 0.99
R8909:Mbd5 UTSW 2 49,169,233 (GRCm39) missense probably benign 0.13
R9121:Mbd5 UTSW 2 49,148,102 (GRCm39) missense possibly damaging 0.59
R9149:Mbd5 UTSW 2 49,141,388 (GRCm39) missense probably damaging 0.98
R9443:Mbd5 UTSW 2 49,146,712 (GRCm39) missense probably damaging 0.99
R9506:Mbd5 UTSW 2 49,162,919 (GRCm39) missense probably damaging 0.96
R9566:Mbd5 UTSW 2 49,169,521 (GRCm39) missense probably damaging 0.96
R9756:Mbd5 UTSW 2 49,169,283 (GRCm39) missense probably benign 0.07
V7583:Mbd5 UTSW 2 49,206,422 (GRCm39) missense probably damaging 0.99
Z1176:Mbd5 UTSW 2 49,169,320 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2015-03-23