Incidental Mutation 'R1400:Mbd5'
ID 160304
Institutional Source Beutler Lab
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Name methyl-CpG binding domain protein 5
Synonyms OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1400 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 48839511-49209702 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 49164788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000112754] [ENSMUST00000132717] [ENSMUST00000197712]
AlphaFold B1AYB6
Predicted Effect probably null
Transcript: ENSMUST00000047413
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792

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 null
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 probably null
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 probably null
Transcript: ENSMUST00000122841
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792

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 benign
Transcript: ENSMUST00000132717
SMART Domains Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H possibly 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
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 PCR Primer
(F):5'- ACTCATCTACAGTCGCTACTAAACAGCA -3'
(R):5'- TGCACAAGGCACAAAAGGGCAT -3'

Sequencing Primer
(F):5'- GCAATCAGATGTTTCCTCCAAATCAG -3'
(R):5'- GGGTAACACTATCAGTTTTCACTCAC -3'
Posted On 2014-03-14