Mutagenetix > Incidental Mutation

Incidental Mutation 'R0544:Mbd5'

44646

Institutional Source

Beutler Lab

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik

MMRRC Submission

038736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48839511-49209702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49147221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 477 (V477A)

Ref Sequence

ENSEMBL: ENSMUSP00000108374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047413] [ENSMUST00000112745] [ENSMUST00000112754]

AlphaFold

B1AYB6

Predicted Effect

probably benign
Transcript: ENSMUST00000047413
AA Change: V477A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: V477A

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: V477A

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

SMART Domains

Protein: ENSMUSP00000108365
Gene: ENSMUSG00000036792
AA Change: V477A

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: V477A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: V477A

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: V216A

SMART Domains

Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: V216A

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

0.0717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (97/99)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,763 (GRCm39)	F130L	probably benign	Het
Aatf	C	T	11: 84,313,831 (GRCm39)	R511Q	probably benign	Het
Acot12	A	T	13: 91,932,775 (GRCm39)	D516V	probably benign	Het
Adgrb2	T	C	4: 129,911,335 (GRCm39)	V1207A	probably damaging	Het
Akap9	A	G	5: 4,119,185 (GRCm39)	D3564G	probably benign	Het
Arl8b	C	T	6: 108,760,189 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,867,273 (GRCm39)		probably null	Het
Atrn	G	A	2: 130,828,746 (GRCm39)	G1097D	probably damaging	Het
Btbd6	A	G	12: 112,940,702 (GRCm39)	E61G	probably damaging	Het
Car15	A	G	16: 17,653,680 (GRCm39)		probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Carmil2	C	T	8: 106,417,867 (GRCm39)	A654V	probably damaging	Het
Ccdc88b	A	G	19: 6,834,634 (GRCm39)	L124P	probably damaging	Het
Ccnd1	A	G	7: 144,491,023 (GRCm39)		probably benign	Het
Cenph	A	G	13: 100,909,249 (GRCm39)	S53P	probably damaging	Het
Chrm3	T	A	13: 9,927,615 (GRCm39)	I474F	probably damaging	Het
Cln8	T	A	8: 14,946,769 (GRCm39)	V261E	probably benign	Het
Coa6	A	G	8: 127,149,499 (GRCm39)	D25G	probably benign	Het
Col4a1	T	G	8: 11,276,487 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,235,055 (GRCm39)	H588R	probably damaging	Het
Cul7	T	C	17: 46,974,470 (GRCm39)	L1516P	possibly damaging	Het
Dcdc5	A	G	2: 106,181,909 (GRCm39)		noncoding transcript	Het
Ddx5	T	C	11: 106,673,288 (GRCm39)		probably benign	Het
Dhx16	C	A	17: 36,192,551 (GRCm39)	P161Q	probably benign	Het
Dpy19l1	A	T	9: 24,396,406 (GRCm39)		probably benign	Het
Fastkd5	A	G	2: 130,457,216 (GRCm39)	V458A	probably damaging	Het
Fhit	A	G	14: 9,870,172 (GRCm38)	V99A	probably damaging	Het
Fndc3a	A	T	14: 72,795,062 (GRCm39)		probably benign	Het
Foxd4	A	T	19: 24,877,182 (GRCm39)	S339R	possibly damaging	Het
Gm10842	T	A	11: 105,037,880 (GRCm39)	D54E	unknown	Het
Gns	T	A	10: 121,212,172 (GRCm39)	Y94*	probably null	Het
Gp2	A	G	7: 119,053,719 (GRCm39)	W81R	probably benign	Het
Hdac5	T	G	11: 102,086,922 (GRCm39)	Q46P	probably damaging	Het
Homer2	A	C	7: 81,299,426 (GRCm39)	V13G	probably damaging	Het
Irs3	A	G	5: 137,642,101 (GRCm39)	S446P	probably benign	Het
Ism2	G	T	12: 87,332,113 (GRCm39)	D141E	probably damaging	Het
Jak1	T	A	4: 101,048,822 (GRCm39)	M19L	probably benign	Het
Kcnd3	C	A	3: 105,566,075 (GRCm39)	R419S	probably damaging	Het
Lamb1	T	C	12: 31,332,694 (GRCm39)	F272S	probably damaging	Het
Ldlrad2	T	G	4: 137,299,579 (GRCm39)	T82P	possibly damaging	Het
Lrp2	T	C	2: 69,322,275 (GRCm39)	K1885E	probably benign	Het
Mrps33	A	T	6: 39,782,488 (GRCm39)	M11K	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myom2	T	A	8: 15,119,796 (GRCm39)	V184E	probably damaging	Het
Ncor1	C	A	11: 62,224,602 (GRCm39)	G1210V	probably damaging	Het
Ncor1	C	T	11: 62,224,603 (GRCm39)	G1210R	probably damaging	Het
Nlrp4a	A	G	7: 26,156,555 (GRCm39)	D760G	probably benign	Het
Noc4l	A	G	5: 110,798,989 (GRCm39)	V231A	possibly damaging	Het
Or2at1	T	C	7: 99,416,867 (GRCm39)	I166T	probably benign	Het
Or4c112	T	C	2: 88,854,170 (GRCm39)	Y59C	probably damaging	Het
Or4f14	A	T	2: 111,742,905 (GRCm39)	Y123*	probably null	Het
Or4n4b	A	T	14: 50,536,139 (GRCm39)	V209E	probably benign	Het
Or52ab7	T	A	7: 102,977,858 (GRCm39)	I55N	probably damaging	Het
Or5b98	A	G	19: 12,931,066 (GRCm39)	T38A	possibly damaging	Het
Or5h25	T	A	16: 58,930,588 (GRCm39)	K128N	probably benign	Het
Or8k23	T	C	2: 86,186,007 (GRCm39)	T240A	probably damaging	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,457,347 (GRCm39)	M1283K	probably damaging	Het
Pkd1	C	T	17: 24,804,657 (GRCm39)	T790I	probably damaging	Het
Plod3	C	A	5: 137,020,465 (GRCm39)	T526K	probably benign	Het
Plxnb2	C	A	15: 89,042,816 (GRCm39)		probably benign	Het
Polr1g	G	T	7: 19,093,066 (GRCm39)	P38Q	probably damaging	Het
Pramel1	T	A	4: 143,124,175 (GRCm39)	D283E	possibly damaging	Het
Prpf40a	T	C	2: 53,031,663 (GRCm39)		probably benign	Het
Psg23	A	T	7: 18,348,607 (GRCm39)	Y67N	probably damaging	Het
Rftn1	T	A	17: 50,301,289 (GRCm39)	Q242L	possibly damaging	Het
Rp1l1	A	T	14: 64,269,515 (GRCm39)	E1700D	probably benign	Het
Scube3	T	C	17: 28,383,127 (GRCm39)	F435S	probably damaging	Het
Sdk2	T	C	11: 113,671,836 (GRCm39)	Y2104C	probably damaging	Het
Septin11	A	G	5: 93,313,227 (GRCm39)	E358G	possibly damaging	Het
Sh3bp1	T	C	15: 78,789,975 (GRCm39)	L246P	probably damaging	Het
Sis	T	C	3: 72,858,975 (GRCm39)	Y352C	probably damaging	Het
Skint1	T	C	4: 111,878,562 (GRCm39)	S165P	probably damaging	Het
Skint10	C	T	4: 112,586,008 (GRCm39)		probably benign	Het
Slc1a2	A	T	2: 102,586,417 (GRCm39)	R340S	probably damaging	Het
Slc26a3	C	A	12: 31,497,739 (GRCm39)	Q48K	probably benign	Het
Slc5a2	A	T	7: 127,869,171 (GRCm39)	Y317F	probably damaging	Het
Sorbs3	T	A	14: 70,431,375 (GRCm39)	T262S	probably benign	Het
Tas2r118	G	T	6: 23,969,400 (GRCm39)	S220R	probably damaging	Het
Terf2ip	C	A	8: 112,741,974 (GRCm39)	Q223K	possibly damaging	Het
Tespa1	A	G	10: 130,196,680 (GRCm39)	Q206R	probably damaging	Het
Tex10	T	C	4: 48,462,766 (GRCm39)		probably null	Het
Tle1	T	A	4: 72,043,227 (GRCm39)	K547N	probably damaging	Het
Tmem131l	T	A	3: 83,805,853 (GRCm39)	Q1530L	probably damaging	Het
Tomm20l	A	G	12: 71,169,851 (GRCm39)	E145G	possibly damaging	Het
Tra2a	C	T	6: 49,227,885 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim37	T	A	11: 87,036,328 (GRCm39)	Y121*	probably null	Het
Tube1	C	T	10: 39,016,941 (GRCm39)		probably null	Het
Usp6nl	T	A	2: 6,425,820 (GRCm39)	V187D	probably damaging	Het
Vmn1r13	T	C	6: 57,187,248 (GRCm39)	F136L	probably benign	Het
Vmn1r201	A	T	13: 22,659,316 (GRCm39)	I177F	probably benign	Het
Vmn1r203	A	T	13: 22,708,443 (GRCm39)	T75S	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,718 (GRCm39)	S53L	probably benign	Het
Xab2	A	T	8: 3,660,994 (GRCm39)	W707R	probably damaging	Het
Zfp808	T	C	13: 62,317,248 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,926,575 (GRCm39)	Y159H	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAAGTAATCTCCCTTTGCCAAC -3'
(R):5'- AACCATTTCCGGCAGGTGCAGTAG -3'

Sequencing Primer
(F):5'- TTGCCAACTGTAAAACCTGGTC -3'
(R):5'- TAGGAAAAGCTGCACTGCTTG -3'

Posted On

2013-06-11