Incidental Mutation 'R1084:Mbd1'
| ID |
84978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd1
|
| Ensembl Gene |
ENSMUSG00000024561 |
| Gene Name |
methyl-CpG binding domain protein 1 |
| Synonyms |
PCM1, Cxxc3 |
| MMRRC Submission |
039170-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74402603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
| 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 damaging
Transcript: ENSMUST00000097530
AA Change: Y35C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095137
Gene: ENSMUSG00000024561
AA Change: Y35C
| 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 damaging
Transcript: ENSMUST00000224047
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224907
|
| Meta Mutation Damage Score |
0.9260 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
| Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
| Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
| Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
| Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
| Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
| Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
| Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
| Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
| Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
| Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
| Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-11-18 |
Incidental Mutation