Incidental Mutation 'R1099:Mbd5'
| ID |
97835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd5
|
| Ensembl Gene |
ENSMUSG00000036792 |
| Gene Name |
methyl-CpG binding domain protein 5 |
| Synonyms |
OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik |
| MMRRC Submission |
039173-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1099 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
48839511-49209702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49148156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 789
(I789V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047413]
[ENSMUST00000112745]
[ENSMUST00000112754]
|
| AlphaFold |
B1AYB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047413
AA Change: I789V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: I789V
| 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 benign
Transcript: ENSMUST00000112745
AA Change: I789V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108365
Gene: ENSMUSG00000036792
AA Change: I789V
| 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 |
probably benign
Transcript: ENSMUST00000112754
AA Change: I789V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: I789V
| 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 |
unknown
Transcript: ENSMUST00000122841
AA Change: I528V
|
| SMART Domains |
Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: I528V
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abca7 |
G |
T |
10: 79,849,577 (GRCm39) |
E1921* |
probably null |
Het |
| Acnat2 |
G |
A |
4: 49,380,484 (GRCm39) |
T298I |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,860 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
A |
8: 18,749,149 (GRCm39) |
T323S |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,784,810 (GRCm39) |
K299R |
probably damaging |
Het |
| Armc2 |
G |
T |
10: 41,793,183 (GRCm39) |
Q814K |
probably benign |
Het |
| Atp9b |
A |
C |
18: 80,901,841 (GRCm39) |
I263S |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
| Casp12 |
T |
A |
9: 5,352,204 (GRCm39) |
H135Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,225 (GRCm39) |
I621V |
probably benign |
Het |
| Cd160 |
G |
A |
3: 96,713,156 (GRCm39) |
A36V |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,954,153 (GRCm39) |
C315S |
probably damaging |
Het |
| Egflam |
A |
G |
15: 7,281,903 (GRCm39) |
V411A |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,084,634 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
A |
2: 3,226,354 (GRCm39) |
S371T |
probably benign |
Het |
| Hspbap1 |
T |
G |
16: 35,645,314 (GRCm39) |
F333C |
probably damaging |
Het |
| Ky |
G |
C |
9: 102,414,923 (GRCm39) |
W278C |
probably damaging |
Het |
| Lrig3 |
T |
A |
10: 125,842,883 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
A |
T |
4: 132,974,439 (GRCm39) |
S580C |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,254,790 (GRCm39) |
T219A |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,727 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
G |
5: 118,061,460 (GRCm39) |
T929A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,558 (GRCm39) |
F237S |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,503 (GRCm39) |
S300T |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,716,874 (GRCm39) |
N541S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,373,173 (GRCm39) |
S2321P |
probably damaging |
Het |
| Prdm8 |
T |
G |
5: 98,331,361 (GRCm39) |
I71S |
probably damaging |
Het |
| Prkg1 |
A |
C |
19: 30,549,012 (GRCm39) |
S654R |
probably benign |
Het |
| Psmf1 |
A |
T |
2: 151,560,590 (GRCm39) |
H260Q |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,422,513 (GRCm39) |
I179N |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,867 (GRCm39) |
K1681E |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,351,241 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
A |
16: 90,059,986 (GRCm39) |
I37F |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,591,191 (GRCm39) |
S383P |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,564,764 (GRCm39) |
D178E |
probably benign |
Het |
| Slc2a5 |
A |
G |
4: 150,226,636 (GRCm39) |
N366S |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,715,760 (GRCm39) |
N465S |
probably benign |
Het |
| Tbc1d9b |
C |
A |
11: 50,037,135 (GRCm39) |
D261E |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,724,675 (GRCm39) |
T359S |
probably damaging |
Het |
| Thap3 |
T |
C |
4: 152,067,788 (GRCm39) |
M97V |
probably benign |
Het |
| Thg1l |
T |
A |
11: 45,844,988 (GRCm39) |
Q88L |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,657 (GRCm39) |
T849A |
probably benign |
Het |
| Tomm70a |
G |
T |
16: 56,963,180 (GRCm39) |
D400Y |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,961,000 (GRCm39) |
I177V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,074,661 (GRCm39) |
I533M |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,380,545 (GRCm39) |
Y2285N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,596,836 (GRCm39) |
P3859S |
probably damaging |
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 |
|
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 |
|
R5059:Mbd5
|
UTSW |
2 |
49,146,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GGGATCAAATACTGCTTTGCCTTGC -3'
(R):5'- ATCTCATGGACCAGGACACCTTGC -3'
Sequencing Primer
(F):5'- GCCTTGCTCTGCTAACCAG -3'
(R):5'- GAACACATGGAATCCCCTTAGTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation