Incidental Mutation 'R5591:Mbd5'
ID 437505
Institutional Source Beutler Lab
Gene Symbol Mbd5
Ensembl Gene ENSMUSG00000036792
Gene Name methyl-CpG binding domain protein 5
Synonyms OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik
MMRRC Submission 043269-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5591 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 48839511-49209702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49164681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 958 (Q958H)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717] [ENSMUST00000197712]
AlphaFold B1AYB6
Predicted Effect probably benign
Transcript: ENSMUST00000047413
AA Change: Q1219H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: Q1219H

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: Q989H

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: Q989H

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: Q958H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: Q958H

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
AA Change: Q327H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: Q327H

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
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T C 7: 44,794,076 (GRCm39) E13G probably null Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Bub1 A T 2: 127,661,263 (GRCm39) M276K probably benign Het
Casp14 A T 10: 78,550,179 (GRCm39) D156E unknown Het
Ccdc82 T A 9: 13,272,822 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,289,521 (GRCm39) N436S probably benign Het
Cyp2j12 A G 4: 96,029,359 (GRCm39) probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Daxx T C 17: 34,130,662 (GRCm39) S226P probably damaging Het
Gm3676 T C 14: 41,365,181 (GRCm39) Y158C probably benign Het
Gnai1 A T 5: 18,476,844 (GRCm39) I285K probably benign Het
Gpr179 C T 11: 97,236,581 (GRCm39) V417I probably benign Het
Helz2 C T 2: 180,882,051 (GRCm39) M247I probably damaging Het
Hmcn2 C T 2: 31,234,059 (GRCm39) L275F probably damaging Het
Ifi27l2b A G 12: 103,417,566 (GRCm39) V207A probably damaging Het
Isg20l2 C T 3: 87,837,731 (GRCm39) probably benign Het
Itga6 A G 2: 71,670,934 (GRCm39) D221G probably damaging Het
Lca5l T C 16: 95,979,929 (GRCm39) Y67C probably damaging Het
Loxl3 T A 6: 83,025,018 (GRCm39) C249S probably damaging Het
Luc7l3 T C 11: 94,184,060 (GRCm39) probably benign Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrm3 G A 11: 76,140,907 (GRCm39) R305H probably benign Het
Mtrex A T 13: 113,063,890 (GRCm39) M1K probably null Het
Or10ak7 A T 4: 118,791,658 (GRCm39) I127K probably damaging Het
Or1j18 A T 2: 36,625,244 (GRCm39) I304F probably benign Het
Or2aj5 T A 16: 19,424,608 (GRCm39) Q270L probably damaging Het
Or2ak7 A G 11: 58,574,951 (GRCm39) N84S probably benign Het
Or2d3c A T 7: 106,526,489 (GRCm39) M59K probably damaging Het
Or4c126 A G 2: 89,823,751 (GRCm39) T5A possibly damaging Het
Or51q1 G T 7: 103,629,320 (GRCm39) R307L probably benign Het
P3h3 C T 6: 124,831,658 (GRCm39) probably benign Het
Pals2 A G 6: 50,157,159 (GRCm39) S276G probably benign Het
Plekhg3 C T 12: 76,607,066 (GRCm39) S42L possibly damaging Het
Polq A G 16: 36,832,247 (GRCm39) probably benign Het
Pramel16 T C 4: 143,675,377 (GRCm39) Y483C probably damaging Het
Pramel28 G T 4: 143,691,530 (GRCm39) L398I probably damaging Het
Raph1 G A 1: 60,540,905 (GRCm39) probably benign Het
Rnf144b G A 13: 47,396,430 (GRCm39) probably null Het
Ryr2 A G 13: 11,609,900 (GRCm39) S4309P probably benign Het
Sash1 A T 10: 8,601,482 (GRCm39) S1158T probably benign Het
Sim2 T C 16: 93,898,048 (GRCm39) V94A probably damaging Het
Sirt5 A G 13: 43,525,317 (GRCm39) D42G possibly damaging Het
Smarcal1 A T 1: 72,630,412 (GRCm39) K155N probably damaging Het
Spam1 A G 6: 24,800,545 (GRCm39) Y428C probably damaging Het
Spef2 T C 15: 9,583,922 (GRCm39) N1655S probably benign Het
Sympk A G 7: 18,787,964 (GRCm39) E1160G probably damaging Het
Tmem192 A G 8: 65,418,254 (GRCm39) Y168C possibly damaging Het
Ttn T A 2: 76,540,012 (GRCm39) M25998L probably benign Het
Usp48 A G 4: 137,379,963 (GRCm39) probably benign Het
Vamp4 A G 1: 162,415,811 (GRCm39) I71V possibly damaging Het
Washc5 C A 15: 59,241,012 (GRCm39) D108Y probably damaging Het
Wdfy4 T A 14: 32,829,087 (GRCm39) H1043L probably benign Het
Zcchc14 C T 8: 122,332,187 (GRCm39) probably benign Het
Zfp407 A G 18: 84,579,262 (GRCm39) F617S probably damaging Het
Zfp869 T A 8: 70,160,342 (GRCm39) N77I probably benign 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
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'- ACCAATTTTCCTATGAAGCTCAGC -3'
(R):5'- TGTCAATAGGCTCTAAAGGGTAC -3'

Sequencing Primer
(F):5'- TTATCAGGTGCAAAGACAACCATAAG -3'
(R):5'- GGCTCTAAAGGGTACTTTTTCATTC -3'
Posted On 2016-10-26