Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Mbd5'

571773

Institutional Source

Beutler Lab

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48839511-49209702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49164580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1186 (I1186V)

Ref Sequence

ENSEMBL: ENSMUSP00000036847 (fasta)

Gene Model

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

AlphaFold

B1AYB6

Predicted Effect

probably benign
Transcript: ENSMUST00000047413
AA Change: I1186V

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

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: I1186V

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: ENSMUST00000112754
AA Change: I956V

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

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792
AA Change: I956V

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

SMART Domains

Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: I925V

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
AA Change: I294V

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

SMART Domains

Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: I294V

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: ENSMUST00000197712

SMART Domains

Protein: ENSMUSP00000143413
Gene: ENSMUSG00000036792

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199257

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
Bmper	T	C	9: 23,395,300 (GRCm39)	I677T	probably damaging	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,911,209 (GRCm39)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,922,717 (GRCm39)	I481L	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,564,168 (GRCm39)	Q528H	possibly damaging	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Ngfr	A	T	11: 95,465,255 (GRCm39)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	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
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
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'- ACATAGGGACACTTAGCTCTGAAG -3'
(R):5'- TTGTTAGCTGGGCAAGGGAC -3'

Sequencing Primer
(F):5'- GGGACACTTAGCTCTGAAGTTTAAC -3'
(R):5'- CTGGGCAAGGGACTGTGG -3'

Posted On

2019-09-13