Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Mbd5'

190396

Institutional Source

Beutler Lab

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

C030040A15Rik, OTTMUSG00000012483, 9430004D19Rik

MMRRC Submission

039743-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48949508-49325405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49257032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 418 (N418S)

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: N418S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: N418S

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: N418S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108365
Gene: ENSMUSG00000036792
AA Change: N418S

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: N418S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: N418S

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: N157S

SMART Domains

Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: N157S

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

0.0589

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063	S249R	possibly damaging	Het
9130409I23Rik	A	G	1: 181,051,319	M1V	probably null	Het
Acadvl	T	A	11: 70,010,355	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600		probably benign	Het
Ank2	C	A	3: 126,933,060	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098	Q149*	probably null	Het
Asap2	C	T	12: 21,224,392	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,758,390	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664		probably benign	Het
Card11	T	A	5: 140,902,905	K233*	probably null	Het
Catip	T	G	1: 74,362,770	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945	S194P	possibly damaging	Het
Dhx58	T	A	11: 100,703,574	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443		probably null	Het
Entpd1	A	T	19: 40,726,236	Q263L	probably benign	Het
Esyt3	T	C	9: 99,336,191	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262	F264S	probably benign	Het
Fam189a2	A	T	19: 23,979,695	I317N	probably damaging	Het
Fam196b	T	A	11: 34,404,263		probably null	Het
Fam45a	A	G	19: 60,817,583	Y102C	probably damaging	Het
Fat1	T	C	8: 45,010,482	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240	V301G	probably benign	Het
H2bfm	A	C	X: 136,927,467	D35A	unknown	Het
Hfm1	A	G	5: 106,880,514	F817L	probably damaging	Het
Hfm1	T	C	5: 106,896,003	E589G	probably damaging	Het
Hivep2	A	T	10: 14,129,505	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631	A339E	probably damaging	Het
Irx4	T	C	13: 73,267,638	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791	I705V	probably benign	Het
Mmp21	C	T	7: 133,677,285	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725	E111G	possibly damaging	Het
Nod1	C	A	6: 54,944,059	V425F	probably damaging	Het
Nos1	A	T	5: 117,895,919	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316	H98Y	probably damaging	Het
Olfr1013	C	T	2: 85,769,855	T18I	probably benign	Het
Olfr172	A	G	16: 58,761,141	F12L	probably benign	Het
Olfr292	G	A	7: 86,695,110	R218H	probably benign	Het
Olfr726	C	G	14: 50,084,370	V104L	probably benign	Het
Olfr933	A	G	9: 38,975,906	I77V	probably damaging	Het
Olfr945	T	C	9: 39,258,571	I37V	probably benign	Het
Optn	G	A	2: 5,053,130	T76I	possibly damaging	Het
Oscar	C	T	7: 3,611,856	W22*	probably null	Het
Palmd	T	A	3: 116,923,657	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212		probably benign	Het
Reps1	A	T	10: 18,118,950	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,096	M70K	probably damaging	Het
Rsf1	A	T	7: 97,662,349	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392	V67I	probably benign	Het
Skp1a	T	A	11: 52,242,615	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,403,408	D367E	probably damaging	Het
Txlnb	A	G	10: 17,843,455	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934		probably null	Het
Vmn2r124	A	T	17: 18,061,925		probably benign	Het
Vmn2r2	T	C	3: 64,117,399	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031		probably null	Het
Zfhx2	C	A	14: 55,065,998	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683	I867T	probably benign	Het

Other mutations in Mbd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Mbd5	APN	2	49250221	missense	possibly damaging	0.92
IGL01481:Mbd5	APN	2	49278939	missense	possibly damaging	0.90
IGL01639:Mbd5	APN	2	49272308	missense	probably damaging	0.98
IGL02063:Mbd5	APN	2	49274767	missense	probably damaging	1.00
IGL02157:Mbd5	APN	2	49278975	missense	probably benign
IGL02510:Mbd5	APN	2	49257029	missense	probably benign	0.05
IGL02932:Mbd5	APN	2	49279448	missense	possibly damaging	0.66
IGL02973:Mbd5	APN	2	49313709	missense	probably damaging	0.99
IGL03189:Mbd5	APN	2	49257751	missense	probably damaging	0.98
BB003:Mbd5	UTSW	2	49256323	missense	probably damaging	0.99
BB013:Mbd5	UTSW	2	49256323	missense	probably damaging	0.99
F5770:Mbd5	UTSW	2	49316410	missense	probably damaging	0.99
R0391:Mbd5	UTSW	2	49272416	missense	possibly damaging	0.90
R0427:Mbd5	UTSW	2	49279079	missense	probably benign	0.27
R0544:Mbd5	UTSW	2	49257209	missense	possibly damaging	0.54
R0883:Mbd5	UTSW	2	49256689	missense	possibly damaging	0.94
R1072:Mbd5	UTSW	2	49257191	missense	probably damaging	1.00
R1099:Mbd5	UTSW	2	49258144	missense	probably benign	0.06
R1400:Mbd5	UTSW	2	49274776	critical splice donor site	probably null
R1497:Mbd5	UTSW	2	49257381	missense	possibly damaging	0.73
R1552:Mbd5	UTSW	2	49272934	missense	probably damaging	0.99
R1675:Mbd5	UTSW	2	49256218	missense	possibly damaging	0.90
R2085:Mbd5	UTSW	2	49279311	missense	possibly damaging	0.90
R2252:Mbd5	UTSW	2	49257686	missense	probably damaging	1.00
R2473:Mbd5	UTSW	2	49279341	missense	probably benign	0.06
R3966:Mbd5	UTSW	2	49272070	missense	possibly damaging	0.46
R4278:Mbd5	UTSW	2	49272293	missense	probably damaging	0.97
R4348:Mbd5	UTSW	2	49256327	missense	probably benign
R4366:Mbd5	UTSW	2	49272966	missense	probably damaging	0.99
R4428:Mbd5	UTSW	2	49279764	missense	possibly damaging	0.94
R4556:Mbd5	UTSW	2	49279394	missense	probably damaging	1.00
R4600:Mbd5	UTSW	2	49257197	missense	probably benign	0.31
R4689:Mbd5	UTSW	2	49258279	missense	possibly damaging	0.46
R4707:Mbd5	UTSW	2	49250156	missense	probably damaging	0.99
R4718:Mbd5	UTSW	2	49256402	missense	possibly damaging	0.66
R4773:Mbd5	UTSW	2	49274611	missense	probably damaging	1.00
R4846:Mbd5	UTSW	2	49256997	missense	probably damaging	1.00
R5015:Mbd5	UTSW	2	49258196	missense	possibly damaging	0.92
R5059:Mbd5	UTSW	2	49256455	missense	probably damaging	0.96
R5268:Mbd5	UTSW	2	49272094	missense	possibly damaging	0.92
R5479:Mbd5	UTSW	2	49272905	missense	probably damaging	0.99
R5579:Mbd5	UTSW	2	49272814	missense	possibly damaging	0.94
R5591:Mbd5	UTSW	2	49274669	missense	probably damaging	1.00
R5876:Mbd5	UTSW	2	49274645	missense	probably damaging	0.98
R5886:Mbd5	UTSW	2	49272452	missense	probably damaging	1.00
R5973:Mbd5	UTSW	2	49272389	missense	probably benign	0.23
R6935:Mbd5	UTSW	2	49279812	missense	probably damaging	0.97
R7317:Mbd5	UTSW	2	49279743	missense	probably benign
R7366:Mbd5	UTSW	2	49274568	missense	probably benign
R7385:Mbd5	UTSW	2	49272449	missense	probably benign	0.01
R7402:Mbd5	UTSW	2	49257554	missense	probably damaging	1.00
R7462:Mbd5	UTSW	2	49257880	missense	possibly damaging	0.52
R7549:Mbd5	UTSW	2	49251343	missense	probably damaging	0.97
R7916:Mbd5	UTSW	2	49257106	missense	probably damaging	0.99
R7926:Mbd5	UTSW	2	49256323	missense	probably damaging	0.99
R7960:Mbd5	UTSW	2	49279784	critical splice donor site	probably null
R8273:Mbd5	UTSW	2	49278879	missense	probably damaging	0.99
R8909:Mbd5	UTSW	2	49279221	missense	probably benign	0.13
R9121:Mbd5	UTSW	2	49258090	missense	possibly damaging	0.59
R9149:Mbd5	UTSW	2	49251376	missense	probably damaging	0.98
R9443:Mbd5	UTSW	2	49256700	missense	probably damaging	0.99
R9506:Mbd5	UTSW	2	49272907	missense	probably damaging	0.96
R9566:Mbd5	UTSW	2	49279509	missense	probably damaging	0.96
V7583:Mbd5	UTSW	2	49316410	missense	probably damaging	0.99
Z1176:Mbd5	UTSW	2	49279308	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCTGTGCAATGGCTGGAAGAAC -3'
(R):5'- CAGACTTGGTAGAAGGGCTTGATGG -3'

Sequencing Primer
(F):5'- TCTGAGAAAGATCCACTTGGC -3'
(R):5'- GTGGAACCTTTATGCCACTACAAG -3'

Posted On

2014-05-14