Incidental Mutation 'IGL02944:Mbd1'
ID364645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbd1
Ensembl Gene ENSMUSG00000024561
Gene Namemethyl-CpG binding domain protein 1
SynonymsPCM1, Cxxc3
Accession Numbers

NCBI RefSeq: NM_013594.2; MGI:1333811

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02944
Quality Score
Status
Chromosome18
Chromosomal Location74267605-74282732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 74277410 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 428 (G428E)
Ref Sequence ENSEMBL: ENSMUSP00000153085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097530] [ENSMUST00000224047] [ENSMUST00000224332]
Predicted Effect probably damaging
Transcript: ENSMUST00000097530
AA Change: G538E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095137
Gene: ENSMUSG00000024561
AA Change: G538E

DomainStartEndE-ValueType
MBD 3 76 3.94e-27 SMART
low complexity region 82 97 N/A INTRINSIC
low complexity region 123 153 N/A INTRINSIC
Pfam:zf-CXXC 194 241 1.9e-13 PFAM
Pfam:zf-CXXC 243 288 1.2e-13 PFAM
low complexity region 358 368 N/A INTRINSIC
low complexity region 513 527 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224047
AA Change: G594E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224159
Predicted Effect probably damaging
Transcript: ENSMUST00000224332
AA Change: G428E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2664084
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,608,657 Q343R probably benign Het
Antxr1 T A 6: 87,188,159 N432I possibly damaging Het
Arhgap15 T C 2: 44,142,350 probably null Het
Atp6v1h T A 1: 5,093,355 probably benign Het
Cav2 T C 6: 17,281,457 Y33H probably damaging Het
Ccdc175 T A 12: 72,117,893 D585V probably benign Het
Coro7 T C 16: 4,635,412 D271G probably benign Het
Cylc1 T A X: 111,123,604 D551E possibly damaging Het
Dnah1 A T 14: 31,300,871 I1103N possibly damaging Het
Gm44 A G X: 90,892,262 K41E probably benign Het
Gmds T A 13: 32,338,452 Y11F probably benign Het
Igkv13-54-1 C T 6: 69,617,390 noncoding transcript Het
Irf8 A G 8: 120,755,125 T318A probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Myom2 A T 8: 15,104,065 probably null Het
Nav2 C T 7: 49,420,256 R287W probably damaging Het
Nfs1 C T 2: 156,127,768 D320N probably damaging Het
Nlrp9a A T 7: 26,558,651 T565S probably benign Het
Nod1 A T 6: 54,924,947 I951N possibly damaging Het
Olfr353 T G 2: 36,890,788 E20A possibly damaging Het
Olfr675 A G 7: 105,024,923 L19P probably damaging Het
Olfr694 A G 7: 106,689,269 L154P probably damaging Het
Olfr924 A T 9: 38,848,752 I213F possibly damaging Het
Pkhd1l1 T C 15: 44,501,531 Y689H probably damaging Het
Ppp2r5c A G 12: 110,567,800 I366V probably benign Het
Ppp3cb T C 14: 20,528,235 Y149C probably damaging Het
Prdm1 T C 10: 44,441,811 S354G probably benign Het
Ralgapa1 T A 12: 55,757,951 Q520L probably benign Het
Slc25a54 A T 3: 109,080,615 Y24F probably benign Het
Slfn3 T A 11: 83,213,011 V236E probably damaging Het
Syt6 A G 3: 103,575,549 probably benign Het
Trim30a G T 7: 104,435,777 N75K probably benign Het
Vmn1r175 T C 7: 23,809,166 E12G probably damaging Het
Xylt1 A T 7: 117,634,757 T504S probably benign Het
Other mutations in Mbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Mbd1 APN 18 74275239 missense possibly damaging 0.72
IGL01551:Mbd1 APN 18 74269543 unclassified probably benign
IGL02213:Mbd1 APN 18 74275382 missense probably damaging 1.00
IGL02562:Mbd1 APN 18 74276922 missense probably benign 0.00
IGL02596:Mbd1 APN 18 74276797 splice site probably benign
IGL02973:Mbd1 APN 18 74275427 splice site probably benign
IGL03200:Mbd1 APN 18 74276431 missense probably benign 0.02
IGL03247:Mbd1 APN 18 74274754 nonsense probably null
IGL03340:Mbd1 APN 18 74274482 missense probably benign 0.00
FR4737:Mbd1 UTSW 18 74273573 small deletion probably benign
P0016:Mbd1 UTSW 18 74274538 nonsense probably null
R0385:Mbd1 UTSW 18 74273241 frame shift probably null
R0630:Mbd1 UTSW 18 74276727 splice site probably benign
R0717:Mbd1 UTSW 18 74273597 missense possibly damaging 0.89
R1084:Mbd1 UTSW 18 74269532 missense probably damaging 1.00
R1290:Mbd1 UTSW 18 74269486 missense possibly damaging 0.59
R1575:Mbd1 UTSW 18 74275419 critical splice donor site probably null
R2065:Mbd1 UTSW 18 74276884 missense probably damaging 1.00
R2192:Mbd1 UTSW 18 74277378 missense probably damaging 0.99
R2308:Mbd1 UTSW 18 74276477 missense probably benign 0.42
R2697:Mbd1 UTSW 18 74273617 missense possibly damaging 0.95
R3407:Mbd1 UTSW 18 74277367 missense possibly damaging 0.94
R4348:Mbd1 UTSW 18 74274416 missense probably damaging 1.00
R4664:Mbd1 UTSW 18 74269526 missense possibly damaging 0.86
R5460:Mbd1 UTSW 18 74269510 missense probably benign 0.03
R5860:Mbd1 UTSW 18 74276697 nonsense probably null
R6431:Mbd1 UTSW 18 74273691 intron probably null
R6734:Mbd1 UTSW 18 74276043 missense probably damaging 1.00
R6861:Mbd1 UTSW 18 74273574
Posted On2015-12-18