Incidental Mutation 'R2308:Mbd1'
ID |
244691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mbd1
|
Ensembl Gene |
ENSMUSG00000024561 |
Gene Name |
methyl-CpG binding domain protein 1 |
Synonyms |
PCM1, Cxxc3 |
MMRRC Submission |
040307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2308 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74409548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 432
(Q432R)
|
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: Q376R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095137 Gene: ENSMUSG00000024561 AA Change: Q376R
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
AA Change: Q432R
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224332
AA Change: Q266R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,624,903 (GRCm39) |
S907P |
probably damaging |
Het |
Epha7 |
G |
A |
4: 28,821,503 (GRCm39) |
E223K |
possibly damaging |
Het |
Ercc6 |
T |
C |
14: 32,288,366 (GRCm39) |
I846T |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,895,503 (GRCm39) |
Y840C |
probably damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,215 (GRCm39) |
D231G |
probably damaging |
Het |
Mark2 |
A |
C |
19: 7,259,299 (GRCm39) |
S90A |
probably damaging |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,741 (GRCm39) |
S168P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,017,850 (GRCm39) |
I304V |
probably benign |
Het |
Or1ak2 |
T |
A |
2: 36,827,312 (GRCm39) |
Y60* |
probably null |
Het |
Or4a27 |
T |
A |
2: 88,559,428 (GRCm39) |
I172F |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,260,135 (GRCm39) |
S43P |
possibly damaging |
Het |
Rbbp8 |
A |
T |
18: 11,829,833 (GRCm39) |
K132I |
possibly damaging |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Slc41a3 |
T |
A |
6: 90,589,102 (GRCm39) |
I71K |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,648,959 (GRCm39) |
N127I |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,842,726 (GRCm39) |
D566V |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 39,004,595 (GRCm39) |
M281V |
probably benign |
Het |
Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,688,156 (GRCm39) |
I2385F |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,931,650 (GRCm39) |
I8T |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,007,455 (GRCm39) |
F477S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,980,815 (GRCm39) |
E470G |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,480 (GRCm39) |
K540R |
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 |
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 |
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 |
PCR Primer
(F):5'- TCTGATGGGAAGTTAGCAGGC -3'
(R):5'- GTACTGGGACTTCTGTGCAAGC -3'
Sequencing Primer
(F):5'- AGGCTCACTGAGTAGGGC -3'
(R):5'- GCTGGTACCCTCTTGTAAAAAC -3'
|
Posted On |
2014-10-30 |