Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01639:Mbd5'

92923

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01639

Quality Score

Status

Chromosome

Chromosomal Location

48839511-49209702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49162320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 42 (N42S)

Ref Sequence

ENSEMBL: ENSMUSP00000137021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717]

AlphaFold

B1AYB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047413
AA Change: N934S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: N934S

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

possibly damaging
Transcript: ENSMUST00000112754
AA Change: N934S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: N934S

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: N673S

SMART Domains

Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: N673S

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 damaging
Transcript: ENSMUST00000132717
AA Change: N42S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: N42S

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
low complexity region	42	56	N/A	INTRINSIC
low complexity region	100	118	N/A	INTRINSIC
low complexity region	128	143	N/A	INTRINSIC
low complexity region	220	244	N/A	INTRINSIC
low complexity region	281	292	N/A	INTRINSIC
low complexity region	314	337	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
low complexity region	424	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199257

Coding Region Coverage

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm4	T	A	13: 3,888,302 (GRCm39)	V136E	probably damaging	Het
Cnot8	A	T	11: 58,002,188 (GRCm39)	I74F	probably damaging	Het
Coq7	A	T	7: 118,124,527 (GRCm39)	V213D	probably damaging	Het
Itgae	A	G	11: 73,010,204 (GRCm39)	T565A	probably benign	Het
Lgi3	A	G	14: 70,770,825 (GRCm39)	I155V	probably benign	Het
Nherf4	T	A	9: 44,159,976 (GRCm39)	E381D	probably benign	Het
Or13a22	A	G	7: 140,073,099 (GRCm39)	I183V	probably benign	Het
Or2l13	T	C	16: 19,305,914 (GRCm39)	S109P	probably damaging	Het
Pals2	T	C	6: 50,155,460 (GRCm39)	I261T	probably damaging	Het
Pcnx1	T	C	12: 81,997,094 (GRCm39)		probably null	Het
Plekhg1	A	G	10: 3,906,751 (GRCm39)	E556G	probably damaging	Het
Rab1a	T	C	11: 20,173,185 (GRCm39)		probably benign	Het
Rfx6	A	T	10: 51,592,002 (GRCm39)	R133*	probably null	Het
Spata31d1c	T	C	13: 65,183,903 (GRCm39)	S482P	probably damaging	Het
Spire1	C	A	18: 67,678,738 (GRCm39)	A68S	possibly damaging	Het
Tmc1	G	A	19: 20,793,556 (GRCm39)	T535M	probably damaging	Het
Trip10	T	A	17: 57,561,165 (GRCm39)		probably benign	Het
Trp53bp1	A	C	2: 121,033,173 (GRCm39)	V1711G	possibly damaging	Het
Ubr4	G	T	4: 139,144,655 (GRCm39)	R1488L	probably damaging	Het
Vmn2r84	A	T	10: 130,225,141 (GRCm39)	Y456*	probably null	Het
Zc3h7a	T	C	16: 10,959,572 (GRCm39)	S794G	possibly damaging	Het
Zeb2	C	T	2: 44,887,269 (GRCm39)	S581N	probably benign	Het
Zfp292	G	A	4: 34,809,048 (GRCm39)	P1332L	probably benign	Het
Zfp641	A	G	15: 98,189,066 (GRCm39)	I131T	possibly 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
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
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

Posted On

2013-12-09