Incidental Mutation 'IGL02213:Mbd1'
| ID |
284739 |
| 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 # |
IGL02213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74408453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 231
(I231F)
|
| 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
AA Change: I341F
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095137
Gene: ENSMUSG00000024561
AA Change: I341F
| 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: I341F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224332
AA Change: I231F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,523,254 (GRCm39) |
R458C |
probably damaging |
Het |
| Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
| Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,087 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
| Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
| Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
| Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
| Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
| Mre11a |
T |
A |
9: 14,723,180 (GRCm39) |
F358I |
probably damaging |
Het |
| Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,262 (GRCm39) |
L406P |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
| Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
| Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
| Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
| Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation