Incidental Mutation 'R1290:Mbd1'
ID |
150775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mbd1
|
Ensembl Gene |
ENSMUSG00000024561 |
Gene Name |
methyl-CpG binding domain protein 1 |
Synonyms |
PCM1, Cxxc3 |
MMRRC Submission |
039356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1290 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74402557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 20
(S20P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097530]
[ENSMUST00000224047]
[ENSMUST00000224332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097530
AA Change: S20P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095137 Gene: ENSMUSG00000024561 AA Change: S20P
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 |
possibly damaging
Transcript: ENSMUST00000224047
AA Change: S20P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224907
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
probably benign |
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 |
IGL02973:Mbd1
|
APN |
18 |
74,408,498 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-29 |