Incidental Mutation 'R5886:Mbd5'
ID 456074
Institutional Source Beutler Lab
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Name methyl-CpG binding domain protein 5
Synonyms OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik
MMRRC Submission 044088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5886 (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 49162464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000137021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717]
AlphaFold B1AYB6
Predicted Effect probably damaging
Transcript: ENSMUST00000047413
AA Change: D982G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: D982G

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 benign
Transcript: ENSMUST00000112754
SMART Domains Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792

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: D721G
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: D721G

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: D90G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: D90G

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: ENSMUST00000199257
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency 96% (78/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Adam26b T C 8: 43,973,310 (GRCm39) E564G possibly damaging Het
Akap1 A G 11: 88,725,486 (GRCm39) probably null Het
Akap5 T A 12: 76,374,619 (GRCm39) V10E possibly damaging Het
Atad2 A T 15: 57,961,910 (GRCm39) L887* probably null Het
Brd10 T C 19: 29,696,677 (GRCm39) I939V probably benign Het
C1qbp A G 11: 70,873,008 (GRCm39) V122A probably benign Het
C1qtnf7 G A 5: 43,772,998 (GRCm39) G92D probably damaging Het
Cacna1a T C 8: 85,249,651 (GRCm39) I219T probably damaging Het
Capn12 A G 7: 28,587,030 (GRCm39) N333S probably benign Het
Ccdc154 C T 17: 25,390,792 (GRCm39) T644I probably benign Het
Cd200r1 T C 16: 44,610,566 (GRCm39) S225P possibly damaging Het
Cntnap5a T C 1: 116,499,402 (GRCm39) probably null Het
Coq4 A T 2: 29,680,626 (GRCm39) probably benign Het
Cubn A T 2: 13,324,834 (GRCm39) probably benign Het
Cyp4f17 A T 17: 32,743,013 (GRCm39) S229C possibly damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
D930007J09Rik C A 13: 32,986,819 (GRCm39) A200E probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Duoxa1 A T 2: 122,134,291 (GRCm39) S276T possibly damaging Het
Efcab15 A G 11: 103,098,947 (GRCm39) probably null Het
Efhb T C 17: 53,758,582 (GRCm39) I351M probably benign Het
Fat1 G A 8: 45,480,718 (GRCm39) probably null Het
Fat1 A T 8: 45,486,432 (GRCm39) T3329S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm973 T A 1: 59,597,409 (GRCm39) probably benign Het
Gpr156 T A 16: 37,799,375 (GRCm39) L124Q probably damaging Het
Hars2 T A 18: 36,923,150 (GRCm39) probably benign Het
Hcrt G A 11: 100,652,759 (GRCm39) A85V probably damaging Het
Hivep1 A G 13: 42,310,088 (GRCm39) D776G probably damaging Het
Hmgcr A T 13: 96,796,691 (GRCm39) S200T probably damaging Het
Krt40 C T 11: 99,430,907 (GRCm39) A201T probably benign Het
Lca5 G A 9: 83,281,734 (GRCm39) A350V probably benign Het
Lrig2 T A 3: 104,370,014 (GRCm39) M515L probably benign Het
Mfsd4a C T 1: 131,995,465 (GRCm39) V56I probably damaging Het
Mpi A G 9: 57,455,745 (GRCm39) probably benign Het
Mroh4 G T 15: 74,478,296 (GRCm39) D935E possibly damaging Het
Mtg1 G T 7: 139,729,778 (GRCm39) probably null Het
Nanos1 T A 19: 60,745,268 (GRCm39) C189S probably damaging Het
Naprt A C 15: 75,763,324 (GRCm39) probably null Het
Nubpl T A 12: 52,228,092 (GRCm39) probably null Het
Or10ad1b T C 15: 98,124,672 (GRCm39) T285A possibly damaging Het
Or10d4 G T 9: 39,581,252 (GRCm39) V300L probably benign Het
Or8g23 T A 9: 38,971,678 (GRCm39) T95S probably benign Het
Or9g20 A G 2: 85,630,147 (GRCm39) S156P probably damaging Het
Otud4 T A 8: 80,399,436 (GRCm39) Y717N probably damaging Het
Pakap T A 4: 57,856,295 (GRCm39) D582E probably damaging Het
Pnpla1 T C 17: 29,095,837 (GRCm39) F86S possibly damaging Het
Prlhr C T 19: 60,456,014 (GRCm39) W184* probably null Het
Rtp3 A G 9: 110,816,204 (GRCm39) S116P probably damaging Het
Sema3c T C 5: 17,886,984 (GRCm39) I345T possibly damaging Het
Skor2 T C 18: 76,947,124 (GRCm39) L282P unknown Het
Slc24a4 T C 12: 102,226,674 (GRCm39) V468A probably damaging Het
Slfn8 C T 11: 82,894,160 (GRCm39) M826I probably benign Het
Tacc2 A G 7: 130,330,850 (GRCm39) D378G probably benign Het
Thbs3 C A 3: 89,127,470 (GRCm39) D370E probably damaging Het
Tk1 CC GA 11: 117,707,948 (GRCm39) probably benign Het
Tm7sf2 A G 19: 6,116,572 (GRCm39) probably benign Het
Trappc8 T C 18: 21,007,737 (GRCm39) Y126C probably damaging Het
Trim35 C G 14: 66,541,502 (GRCm39) L209V possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Trip12 C T 1: 84,708,179 (GRCm39) probably benign Het
Trp53bp1 A G 2: 121,035,502 (GRCm39) V1583A probably damaging Het
Tuba5-ps A G 1: 134,447,937 (GRCm39) noncoding transcript Het
Tubgcp6 A T 15: 88,987,450 (GRCm39) N1166K possibly damaging Het
Usp54 C T 14: 20,611,910 (GRCm39) D969N probably benign Het
Vldlr C A 19: 27,221,171 (GRCm39) S612R probably benign Het
Vps13a T C 19: 16,641,926 (GRCm39) T2234A probably benign Het
Vps39 A G 2: 120,152,053 (GRCm39) probably benign Het
Zdhhc3 A T 9: 122,920,146 (GRCm39) C120S probably benign Het
Zfp37 A G 4: 62,109,471 (GRCm39) F531S probably damaging 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
F5770:Mbd5 UTSW 2 49,206,422 (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
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 PCR Primer
(F):5'- TTTTCCATCCAACAGCACCG -3'
(R):5'- TTGCTTGGCAAACGGTCTG -3'

Sequencing Primer
(F):5'- TTGAACCCCAGCCTCCTCAG -3'
(R):5'- AAACGGTCTGGTGGGGC -3'
Posted On 2017-02-15