Incidental Mutation 'IGL02973:Mbd1'
| ID |
365913 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbd1
|
| Ensembl Gene |
ENSMUSG00000024561 |
| Gene Name |
methyl-CpG binding domain protein 1 |
| Synonyms |
PCM1, Cxxc3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 74408498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097530]
[ENSMUST00000224047]
[ENSMUST00000224332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097530
|
| SMART Domains |
Protein: ENSMUSP00000095137
Gene: ENSMUSG00000024561
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000224047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224332
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,995,314 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
| Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
| Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,715,573 (GRCm39) |
A680S |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
| Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
| Fank1 |
T |
C |
7: 133,478,578 (GRCm39) |
L213P |
probably damaging |
Het |
| Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
| Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
| Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
| Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,790 (GRCm39) |
V298A |
probably benign |
Het |
| Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
| Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
| Wdr89 |
T |
G |
12: 75,679,873 (GRCm39) |
D127A |
probably damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
| Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Mbd1
|
APN |
18 |
74,408,310 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01551:Mbd1
|
APN |
18 |
74,402,614 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02213:Mbd1
|
APN |
18 |
74,408,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Mbd1
|
APN |
18 |
74,409,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02596:Mbd1
|
APN |
18 |
74,409,868 (GRCm39) |
splice site |
probably benign |
|
|
IGL02944:Mbd1
|
APN |
18 |
74,410,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03200:Mbd1
|
APN |
18 |
74,409,502 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03247:Mbd1
|
APN |
18 |
74,407,825 (GRCm39) |
nonsense |
probably null |
|
|
IGL03340:Mbd1
|
APN |
18 |
74,407,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
Shortbread
|
UTSW |
18 |
74,407,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
FR4737:Mbd1
|
UTSW |
18 |
74,406,644 (GRCm39) |
small deletion |
probably benign |
|
|
P0016:Mbd1
|
UTSW |
18 |
74,407,609 (GRCm39) |
nonsense |
probably null |
|
|
R0385:Mbd1
|
UTSW |
18 |
74,406,312 (GRCm39) |
frame shift |
probably null |
|
|
R0630:Mbd1
|
UTSW |
18 |
74,409,798 (GRCm39) |
splice site |
probably benign |
|
|
R0717:Mbd1
|
UTSW |
18 |
74,406,668 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1084:Mbd1
|
UTSW |
18 |
74,402,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Mbd1
|
UTSW |
18 |
74,402,557 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1575:Mbd1
|
UTSW |
18 |
74,408,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2065:Mbd1
|
UTSW |
18 |
74,409,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Mbd1
|
UTSW |
18 |
74,410,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2308:Mbd1
|
UTSW |
18 |
74,409,548 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2697:Mbd1
|
UTSW |
18 |
74,406,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3407:Mbd1
|
UTSW |
18 |
74,410,438 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4348:Mbd1
|
UTSW |
18 |
74,407,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Mbd1
|
UTSW |
18 |
74,402,597 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5460:Mbd1
|
UTSW |
18 |
74,402,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5860:Mbd1
|
UTSW |
18 |
74,409,768 (GRCm39) |
nonsense |
probably null |
|
|
R6431:Mbd1
|
UTSW |
18 |
74,406,762 (GRCm39) |
splice site |
probably null |
|
|
R6734:Mbd1
|
UTSW |
18 |
74,409,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Mbd1
|
UTSW |
18 |
74,406,645 (GRCm39) |
|
|
|
|
R7363:Mbd1
|
UTSW |
18 |
74,406,357 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7543:Mbd1
|
UTSW |
18 |
74,407,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7657:Mbd1
|
UTSW |
18 |
74,407,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Mbd1
|
UTSW |
18 |
74,407,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8960:Mbd1
|
UTSW |
18 |
74,406,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9161:Mbd1
|
UTSW |
18 |
74,407,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9774:Mbd1
|
UTSW |
18 |
74,408,274 (GRCm39) |
missense |
probably benign |
|
|
RF005:Mbd1
|
UTSW |
18 |
74,406,644 (GRCm39) |
small deletion |
probably benign |
|
|
RF011:Mbd1
|
UTSW |
18 |
74,406,681 (GRCm39) |
small deletion |
probably benign |
|
|
RF024:Mbd1
|
UTSW |
18 |
74,406,681 (GRCm39) |
small deletion |
probably benign |
|
|
RF024:Mbd1
|
UTSW |
18 |
74,406,644 (GRCm39) |
small deletion |
probably benign |
|
|
RF058:Mbd1
|
UTSW |
18 |
74,406,680 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Mbd1
|
UTSW |
18 |
74,410,010 (GRCm39) |
missense |
probably null |
0.72 |
|
| Posted On |
2015-12-18 |
Incidental Mutation