Incidental Mutation 'IGL03247:Mbd1'
ID |
414456 |
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 # |
IGL03247
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
74400676-74415803 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 74407825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 174
(L174*)
|
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 null
Transcript: ENSMUST00000097530
AA Change: L284*
|
SMART Domains |
Protein: ENSMUSP00000095137 Gene: ENSMUSG00000024561 AA Change: L284*
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 null
Transcript: ENSMUST00000224047
AA Change: L284*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224159
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224332
AA Change: L174*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224907
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
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 |
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 |
2016-08-02 |