Incidental Mutation 'R5059:Mbd5'
| ID |
386496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd5
|
| Ensembl Gene |
ENSMUSG00000036792 |
| Gene Name |
methyl-CpG binding domain protein 5 |
| Synonyms |
OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik |
| MMRRC Submission |
042649-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5059 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
48839511-49209702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49146467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 226
(S226P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047413]
[ENSMUST00000112745]
[ENSMUST00000112754]
|
| AlphaFold |
B1AYB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047413
AA Change: S226P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: S226P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Blast:MBD
|
24 |
77 |
9e-11 |
BLAST |
|
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
932 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1112 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1552 |
1562 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
1615 |
1718 |
2e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112745
AA Change: S226P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108365
Gene: ENSMUSG00000036792
AA Change: S226P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Blast:MBD
|
24 |
77 |
4e-11 |
BLAST |
|
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112754
AA Change: S226P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: S226P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Blast:MBD
|
24 |
77 |
8e-11 |
BLAST |
|
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
932 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1322 |
1332 |
N/A |
INTRINSIC |
|
SCOP:d1khca_
|
1385 |
1488 |
4e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122841
|
| SMART Domains |
Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1022 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1064 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199257
|
| Meta Mutation Damage Score |
0.0625 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,637 (GRCm39) |
N455I |
probably damaging |
Het |
| Alg12 |
A |
G |
15: 88,695,659 (GRCm39) |
F279S |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,776,360 (GRCm39) |
D296G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,586,204 (GRCm39) |
S437T |
probably damaging |
Het |
| Apol7a |
G |
A |
15: 77,274,012 (GRCm39) |
|
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,843,175 (GRCm39) |
Y465F |
probably damaging |
Het |
| Atp8a2 |
T |
G |
14: 59,928,986 (GRCm39) |
T1023P |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,993,430 (GRCm39) |
A295E |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,181 (GRCm39) |
E92G |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,356,224 (GRCm39) |
S752P |
probably benign |
Het |
| Dlx2 |
T |
C |
2: 71,376,585 (GRCm39) |
H51R |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,874 (GRCm39) |
I736T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,202,427 (GRCm39) |
T252A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,658 (GRCm39) |
R151G |
possibly damaging |
Het |
| Gapdhs |
C |
T |
7: 30,431,410 (GRCm39) |
A357T |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,319 (GRCm39) |
M1671K |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,907,113 (GRCm39) |
Y327C |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,214,503 (GRCm39) |
R542G |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,854,361 (GRCm39) |
K308E |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,675 (GRCm39) |
F178S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,232,401 (GRCm39) |
D1640G |
probably damaging |
Het |
| Il18r1 |
G |
A |
1: 40,520,227 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,910,250 (GRCm39) |
S23P |
possibly damaging |
Het |
| Lactb |
T |
C |
9: 66,882,426 (GRCm39) |
E83G |
probably benign |
Het |
| Larp4 |
A |
T |
15: 99,903,171 (GRCm39) |
D414V |
probably damaging |
Het |
| Map2k5 |
T |
C |
9: 63,164,296 (GRCm39) |
H336R |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,887,071 (GRCm39) |
E1006G |
probably damaging |
Het |
| Micall1 |
A |
T |
15: 79,007,034 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,375,827 (GRCm39) |
|
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,488 (GRCm39) |
K81* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,694,522 (GRCm39) |
L85P |
probably damaging |
Het |
| Pnrc1 |
G |
A |
4: 33,246,072 (GRCm39) |
Q296* |
probably null |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
G |
4: 143,691,565 (GRCm39) |
V386A |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,924,046 (GRCm39) |
L439Q |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,655,882 (GRCm39) |
L3970P |
probably damaging |
Het |
| Ptcd1 |
G |
A |
5: 145,089,034 (GRCm39) |
P542L |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,520,634 (GRCm39) |
T631I |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,570,619 (GRCm39) |
N271S |
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,177,709 (GRCm39) |
M541T |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,551 (GRCm39) |
C169S |
probably benign |
Het |
| Tgfbr3l |
T |
A |
8: 4,299,343 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,149 (GRCm39) |
N647D |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,836,293 (GRCm39) |
K638R |
probably null |
Het |
| Vmn1r191 |
G |
A |
13: 22,363,163 (GRCm39) |
A197V |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,044 (GRCm39) |
T894A |
possibly damaging |
Het |
| Vstm4 |
T |
G |
14: 32,585,687 (GRCm39) |
Y85D |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,482 (GRCm39) |
I160T |
probably benign |
Het |
| Zc3h7a |
TAGAGAG |
TAGAGAGAG |
16: 10,978,985 (GRCm39) |
|
probably null |
Het |
| Zfp988 |
A |
T |
4: 147,416,372 (GRCm39) |
K269* |
probably null |
Het |
|
| Other mutations in Mbd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Mbd5
|
APN |
2 |
49,140,233 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01481:Mbd5
|
APN |
2 |
49,168,951 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01639:Mbd5
|
APN |
2 |
49,162,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02063:Mbd5
|
APN |
2 |
49,164,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Mbd5
|
APN |
2 |
49,168,987 (GRCm39) |
missense |
probably benign |
|
|
IGL02510:Mbd5
|
APN |
2 |
49,147,041 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02932:Mbd5
|
APN |
2 |
49,169,460 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02973:Mbd5
|
APN |
2 |
49,203,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03189:Mbd5
|
APN |
2 |
49,147,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB003:Mbd5
|
UTSW |
2 |
49,146,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB013:Mbd5
|
UTSW |
2 |
49,146,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F5770:Mbd5
|
UTSW |
2 |
49,206,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0391:Mbd5
|
UTSW |
2 |
49,162,428 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0427:Mbd5
|
UTSW |
2 |
49,169,091 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0544:Mbd5
|
UTSW |
2 |
49,147,221 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0883:Mbd5
|
UTSW |
2 |
49,146,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1072:Mbd5
|
UTSW |
2 |
49,147,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Mbd5
|
UTSW |
2 |
49,148,156 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1400:Mbd5
|
UTSW |
2 |
49,164,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1497:Mbd5
|
UTSW |
2 |
49,147,393 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1552:Mbd5
|
UTSW |
2 |
49,162,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1675:Mbd5
|
UTSW |
2 |
49,146,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1710:Mbd5
|
UTSW |
2 |
49,147,044 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2085:Mbd5
|
UTSW |
2 |
49,169,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2252:Mbd5
|
UTSW |
2 |
49,147,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Mbd5
|
UTSW |
2 |
49,169,353 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3966:Mbd5
|
UTSW |
2 |
49,162,082 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4278:Mbd5
|
UTSW |
2 |
49,162,305 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4348:Mbd5
|
UTSW |
2 |
49,146,339 (GRCm39) |
missense |
probably benign |
|
|
R4366:Mbd5
|
UTSW |
2 |
49,162,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4428:Mbd5
|
UTSW |
2 |
49,169,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4556:Mbd5
|
UTSW |
2 |
49,169,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Mbd5
|
UTSW |
2 |
49,147,209 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4689:Mbd5
|
UTSW |
2 |
49,148,291 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4707:Mbd5
|
UTSW |
2 |
49,140,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4718:Mbd5
|
UTSW |
2 |
49,146,414 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4773:Mbd5
|
UTSW |
2 |
49,164,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Mbd5
|
UTSW |
2 |
49,147,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Mbd5
|
UTSW |
2 |
49,148,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5268:Mbd5
|
UTSW |
2 |
49,162,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5479:Mbd5
|
UTSW |
2 |
49,162,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5579:Mbd5
|
UTSW |
2 |
49,162,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5591:Mbd5
|
UTSW |
2 |
49,164,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Mbd5
|
UTSW |
2 |
49,164,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5886:Mbd5
|
UTSW |
2 |
49,162,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Mbd5
|
UTSW |
2 |
49,162,401 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6935:Mbd5
|
UTSW |
2 |
49,169,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7317:Mbd5
|
UTSW |
2 |
49,169,755 (GRCm39) |
missense |
probably benign |
|
|
R7366:Mbd5
|
UTSW |
2 |
49,164,580 (GRCm39) |
missense |
probably benign |
|
|
R7385:Mbd5
|
UTSW |
2 |
49,162,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7402:Mbd5
|
UTSW |
2 |
49,147,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Mbd5
|
UTSW |
2 |
49,147,892 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7549:Mbd5
|
UTSW |
2 |
49,141,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7916:Mbd5
|
UTSW |
2 |
49,147,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7926:Mbd5
|
UTSW |
2 |
49,146,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7960:Mbd5
|
UTSW |
2 |
49,169,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8273:Mbd5
|
UTSW |
2 |
49,168,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Mbd5
|
UTSW |
2 |
49,169,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9121:Mbd5
|
UTSW |
2 |
49,148,102 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9149:Mbd5
|
UTSW |
2 |
49,141,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9443:Mbd5
|
UTSW |
2 |
49,146,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9506:Mbd5
|
UTSW |
2 |
49,162,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9566:Mbd5
|
UTSW |
2 |
49,169,521 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9756:Mbd5
|
UTSW |
2 |
49,169,283 (GRCm39) |
missense |
probably benign |
0.07 |
|
V7583:Mbd5
|
UTSW |
2 |
49,206,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Mbd5
|
UTSW |
2 |
49,169,320 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAATGTAAGAATCCTTTCAAG -3'
(R):5'- TCTTCCAGCCATTGCACAGG -3'
Sequencing Primer
(F):5'- AGAATCCTTTCAAGTTAATGACTGG -3'
(R):5'- CAGCCATTGCACAGGATGACTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation