Mutagenetix > Incidental Mutation

Incidental Mutation 'R4556:Mbd5'

341857

Institutional Source

Beutler Lab

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik

MMRRC Submission

041597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48839511-49209702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49169406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1526 (G1526R)

Ref Sequence

ENSEMBL: ENSMUSP00000036847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112754] [ENSMUST00000132717] [ENSMUST00000197712]

AlphaFold

B1AYB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000047413
AA Change: G1526R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: G1526R

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: ENSMUST00000112754
AA Change: G1296R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: G1296R

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: ENSMUST00000132717

SMART Domains

Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792

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: ENSMUST00000196045

Predicted Effect

probably benign
Transcript: ENSMUST00000196831

Predicted Effect

probably benign
Transcript: ENSMUST00000197712

SMART Domains

Protein: ENSMUSP00000143413
Gene: ENSMUSG00000036792

Domain	Start	End	E-Value	Type
SCOP:d1khca_	63	93	1e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,667,937 (GRCm39)		probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamts17	A	T	7: 66,677,641 (GRCm39)	E518D	probably damaging	Het
Cdk5rap2	A	G	4: 70,157,549 (GRCm39)	S1601P	probably damaging	Het
Erc2	A	C	14: 28,024,861 (GRCm39)	D580A	probably damaging	Het
Fbxo4	A	G	15: 3,995,187 (GRCm39)	*386R	probably null	Het
Fbxo42	T	A	4: 140,926,321 (GRCm39)	H334Q	probably damaging	Het
Gdf5	A	G	2: 155,783,782 (GRCm39)	R24G	probably benign	Het
Lama3	G	T	18: 12,612,816 (GRCm39)	R1200L	possibly damaging	Het
Lxn	T	A	3: 67,365,953 (GRCm39)	I182F	possibly damaging	Het
Mcub	G	A	3: 129,709,384 (GRCm39)	Q310*	probably null	Het
Ndufaf7	T	C	17: 79,249,516 (GRCm39)	S138P	probably benign	Het
Nktr	A	G	9: 121,570,189 (GRCm39)	T90A	probably damaging	Het
Nr1h5	G	A	3: 102,853,457 (GRCm39)	A350V	probably benign	Het
Or1e29	G	A	11: 73,667,307 (GRCm39)	T282I	possibly damaging	Het
Or7e174	T	C	9: 20,012,619 (GRCm39)	L188P	possibly damaging	Het
Pros1	A	G	16: 62,721,036 (GRCm39)	K197R	possibly damaging	Het
Rmnd5b	G	T	11: 51,517,732 (GRCm39)		probably null	Het
Rnf25	A	T	1: 74,638,264 (GRCm39)	I26N	probably damaging	Het
Scn4a	T	C	11: 106,211,272 (GRCm39)	I1582V	probably benign	Het
Sh2d3c	A	G	2: 32,643,021 (GRCm39)	T583A	possibly damaging	Het
Sh3tc1	T	C	5: 35,864,426 (GRCm39)	Y587C	probably damaging	Het
Slc6a11	A	G	6: 114,221,773 (GRCm39)	S488G	probably benign	Het
Smim22	T	A	16: 4,825,730 (GRCm39)	F38L	possibly damaging	Het
Stab2	T	G	10: 86,803,543 (GRCm39)	E335D	possibly damaging	Het
Tas2r102	T	C	6: 132,739,878 (GRCm39)	F262S	probably damaging	Het
Thap12	A	G	7: 98,365,052 (GRCm39)	N407D	probably benign	Het
Tmem225	T	C	9: 40,060,762 (GRCm39)	F107S	probably damaging	Het
Vmn1r229	T	A	17: 21,034,953 (GRCm39)	V66E	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,804 (GRCm39)	S67P	possibly damaging	Het
Xrcc4	A	T	13: 90,140,623 (GRCm39)	H195Q	probably benign	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
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'- CAGTAGTCCTTGCCACGAAAGG -3'
(R):5'- TTTAGCATCTGAGGGACTAGGC -3'

Sequencing Primer
(F):5'- GGCCCAACAATGTCTCTACACTG -3'
(R):5'- GGCACACACCCATTAATGGTTTTG -3'

Posted On

2015-09-24