Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Mbd5'

31663

Institutional Source

Beutler Lab

Gene Symbol

Mbd5

Ensembl Gene

ENSMUSG00000036792

Gene Name

methyl-CpG binding domain protein 5

Synonyms

OTTMUSG00000012483, 9430004D19Rik, C030040A15Rik

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48839511-49209702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49162428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 970 (V970A)

Ref Sequence

ENSEMBL: ENSMUSP00000036847 (fasta)

Gene Model

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

AlphaFold

B1AYB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047413
AA Change: V970A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036847
Gene: ENSMUSG00000036792
AA Change: V970A

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

SMART Domains

Protein: ENSMUSP00000108374
Gene: ENSMUSG00000036792

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: V709A

SMART Domains

Protein: ENSMUSP00000119317
Gene: ENSMUSG00000036792
AA Change: V709A

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

possibly damaging
Transcript: ENSMUST00000132717
AA Change: V78A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137021
Gene: ENSMUSG00000036792
AA Change: V78A

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

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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
9530002B09Rik	T	A	4: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,733,903 (GRCm39)	H378R	possibly damaging	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mpp4	A	T	1: 59,182,988 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm39)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad2	A	T	18: 76,422,108 (GRCm39)		probably null	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Stil	A	G	4: 114,898,369 (GRCm39)		probably null	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	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
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

Predicted Primers

PCR Primer
(F):5'- ATTGTAGGTGGTTCAAGCCTGCCG -3'
(R):5'- TTAATCCTGAGGCCCCAGTGACAG -3'

Sequencing Primer
(F):5'- GACAACATCTGTTCTCCAAGATGG -3'
(R):5'- AGTGTCACTGCCTGCTAAAG -3'

Posted On

2013-04-24