Mutagenetix > Incidental Mutation

Incidental Mutation 'R5053:Mbd6'

394761

Institutional Source

Beutler Lab

Gene Symbol

Mbd6

Ensembl Gene

ENSMUSG00000025409

Gene Name

methyl-CpG binding domain protein 6

Synonyms

D10Wsu93e

MMRRC Submission

042643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5053 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

127117825-127124887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127122310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 173 (V173I)

Ref Sequence

ENSEMBL: ENSMUSP00000112805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000026476] [ENSMUST00000026479] [ENSMUST00000119078] [ENSMUST00000172567] [ENSMUST00000230446] [ENSMUST00000139091] [ENSMUST00000156208]

AlphaFold

Q3TY92

Predicted Effect

probably benign
Transcript: ENSMUST00000026475

SMART Domains

Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
BRLZ	94	160	1.23e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026476
AA Change: V173I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: V173I

Domain	Start	End	E-Value	Type
Blast:MBD	26	79	8e-10	BLAST
low complexity region	80	94	N/A	INTRINSIC
low complexity region	140	155	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	212	229	N/A	INTRINSIC
low complexity region	247	262	N/A	INTRINSIC
low complexity region	269	295	N/A	INTRINSIC
low complexity region	311	342	N/A	INTRINSIC
low complexity region	347	378	N/A	INTRINSIC
low complexity region	383	428	N/A	INTRINSIC
low complexity region	442	455	N/A	INTRINSIC
low complexity region	461	498	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	566	634	N/A	INTRINSIC
low complexity region	636	652	N/A	INTRINSIC
low complexity region	653	674	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	733	799	N/A	INTRINSIC
low complexity region	815	849	N/A	INTRINSIC
low complexity region	853	890	N/A	INTRINSIC
low complexity region	949	958	N/A	INTRINSIC
low complexity region	978	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026479

SMART Domains

Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410

Domain	Start	End	E-Value	Type
Pfam:Dynamitin	16	400	7.1e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119078
AA Change: V173I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: V173I

Domain	Start	End	E-Value	Type
Blast:MBD	26	79	8e-10	BLAST
low complexity region	80	94	N/A	INTRINSIC
low complexity region	140	155	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	212	229	N/A	INTRINSIC
low complexity region	247	262	N/A	INTRINSIC
low complexity region	269	295	N/A	INTRINSIC
low complexity region	311	342	N/A	INTRINSIC
low complexity region	347	378	N/A	INTRINSIC
low complexity region	383	428	N/A	INTRINSIC
low complexity region	442	455	N/A	INTRINSIC
low complexity region	461	498	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	566	634	N/A	INTRINSIC
low complexity region	636	652	N/A	INTRINSIC
low complexity region	653	674	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	733	798	N/A	INTRINSIC
low complexity region	813	847	N/A	INTRINSIC
low complexity region	851	888	N/A	INTRINSIC
low complexity region	947	956	N/A	INTRINSIC
low complexity region	976	1000	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126243

SMART Domains

Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
low complexity region	1	26	N/A	INTRINSIC
low complexity region	31	76	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	109	146	N/A	INTRINSIC
low complexity region	148	165	N/A	INTRINSIC
low complexity region	181	211	N/A	INTRINSIC
low complexity region	214	282	N/A	INTRINSIC
low complexity region	284	300	N/A	INTRINSIC
low complexity region	301	322	N/A	INTRINSIC
low complexity region	324	334	N/A	INTRINSIC
low complexity region	381	446	N/A	INTRINSIC
low complexity region	462	496	N/A	INTRINSIC
low complexity region	500	537	N/A	INTRINSIC
low complexity region	596	610	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134686

Predicted Effect

probably benign
Transcript: ENSMUST00000136169

SMART Domains

Protein: ENSMUSP00000122504
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
low complexity region	55	64	N/A	INTRINSIC
low complexity region	84	108	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218556

Predicted Effect

probably benign
Transcript: ENSMUST00000172567

SMART Domains

Protein: ENSMUSP00000134527
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
low complexity region	1	66	N/A	INTRINSIC
low complexity region	81	115	N/A	INTRINSIC
low complexity region	119	156	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230446

Predicted Effect

probably benign
Transcript: ENSMUST00000139091

SMART Domains

Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408

Domain	Start	End	E-Value	Type
low complexity region	73	88	N/A	INTRINSIC
BRLZ	94	160	1.23e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154851

SMART Domains

Protein: ENSMUSP00000133835
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
low complexity region	2	61	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
low complexity region	101	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156208

SMART Domains

Protein: ENSMUSP00000114590
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
SCOP:d1qk9a_	22	88	6e-5	SMART
Blast:MBD	26	79	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218752

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,035,250 (GRCm39)	I259F	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Adsl	T	C	15: 80,844,651 (GRCm39)	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,614,349 (GRCm39)	I448T	possibly damaging	Het
Alg9	G	T	9: 50,699,472 (GRCm39)	G200W	probably damaging	Het
Amhr2	G	A	15: 102,355,693 (GRCm39)	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,774,248 (GRCm39)	L200*	probably null	Het
As3mt	A	G	19: 46,697,493 (GRCm39)	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,114,068 (GRCm39)	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,392,063 (GRCm39)	Y468F	probably damaging	Het
Cep250	A	G	2: 155,804,848 (GRCm39)	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,616,882 (GRCm39)	T923A	probably benign	Het
Clec16a	T	C	16: 10,394,461 (GRCm39)	L273P	probably damaging	Het
Comtd1	T	C	14: 21,897,764 (GRCm39)	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,271 (GRCm39)	E144V	probably damaging	Het
Cyp2c37	G	A	19: 39,990,331 (GRCm39)	S343N	probably benign	Het
Dennd6a	C	A	14: 26,329,738 (GRCm39)	T103K	probably damaging	Het
Ect2l	A	G	10: 18,016,093 (GRCm39)	L733P	probably damaging	Het
Erg	T	A	16: 95,325,393 (GRCm39)	H11L	probably benign	Het
Ero1b	T	C	13: 12,614,795 (GRCm39)	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,048,766 (GRCm39)	L135*	probably null	Het
Frmd4a	A	T	2: 4,608,732 (GRCm39)	T867S	probably damaging	Het
Gm815	C	T	19: 26,863,813 (GRCm39)	A18V	unknown	Het
Gna12	C	A	5: 140,746,482 (GRCm39)	R321L	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,264,643 (GRCm39)	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,957 (GRCm39)	Q551K	probably benign	Het
Klhl11	C	T	11: 100,363,026 (GRCm39)	V177M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,662,269 (GRCm39)	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,740,489 (GRCm39)	M223K	probably damaging	Het
Mme	T	A	3: 63,272,270 (GRCm39)	V623E	probably damaging	Het
Ndc1	T	C	4: 107,231,415 (GRCm39)	S119P	probably damaging	Het
Nfs1	A	C	2: 155,968,318 (GRCm39)	C383G	probably damaging	Het
Nphp4	A	G	4: 152,628,919 (GRCm39)		probably null	Het
Oca2	C	A	7: 55,973,328 (GRCm39)	Q411K	probably benign	Het
Or10ab4	A	G	7: 107,654,741 (GRCm39)	H184R	probably benign	Het
Or11h23	T	A	14: 50,947,968 (GRCm39)	Y60*	probably null	Het
Or1ad1	G	A	11: 50,876,137 (GRCm39)	G203D	probably damaging	Het
Or4c15	C	A	2: 88,760,597 (GRCm39)	V21F	probably benign	Het
Or8k25	A	G	2: 86,243,682 (GRCm39)	F238S	probably damaging	Het
Pcdh7	A	T	5: 57,878,943 (GRCm39)	T493S	probably damaging	Het
Phf20	T	C	2: 156,115,782 (GRCm39)	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,607,686 (GRCm39)	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,299,442 (GRCm39)	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,471 (GRCm39)	Q215K	probably benign	Het
Prpf6	T	C	2: 181,291,246 (GRCm39)	V687A	probably benign	Het
Ptprq	T	A	10: 107,399,063 (GRCm39)	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,541,073 (GRCm39)	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,309,473 (GRCm39)		probably null	Het
Sertad3	T	A	7: 27,175,947 (GRCm39)	V127E	probably benign	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shq1	A	G	6: 100,632,220 (GRCm39)	L202P	probably damaging	Het
Sp8	C	T	12: 118,813,339 (GRCm39)	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,231,599 (GRCm39)	D125E	probably benign	Het
Trim3	G	T	7: 105,266,968 (GRCm39)	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315 (GRCm39)	C88*	probably null	Het
Unc79	T	A	12: 103,071,007 (GRCm39)	D1124E	probably damaging	Het
Usf3	T	C	16: 44,037,550 (GRCm39)	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,664,241 (GRCm39)		probably null	Het
Zfp819	C	T	7: 43,266,570 (GRCm39)	T275I	probably damaging	Het
Zranb2	T	A	3: 157,246,796 (GRCm39)	D161E	probably damaging	Het

Other mutations in Mbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Mbd6	APN	10	127,119,988 (GRCm39)	unclassified	probably benign
IGL01685:Mbd6	APN	10	127,120,601 (GRCm39)	unclassified	probably benign
IGL02741:Mbd6	APN	10	127,123,263 (GRCm39)	critical splice donor site	probably null
IGL03090:Mbd6	APN	10	127,123,013 (GRCm39)	missense	probably damaging	1.00
IGL03395:Mbd6	APN	10	127,119,286 (GRCm39)	missense	probably damaging	1.00
R0041:Mbd6	UTSW	10	127,122,741 (GRCm39)	missense	probably damaging	1.00
R0480:Mbd6	UTSW	10	127,121,742 (GRCm39)	unclassified	probably benign
R0507:Mbd6	UTSW	10	127,119,389 (GRCm39)	unclassified	probably benign
R1686:Mbd6	UTSW	10	127,123,286 (GRCm39)	missense	probably damaging	0.99
R3418:Mbd6	UTSW	10	127,122,372 (GRCm39)	missense	probably null	0.83
R3419:Mbd6	UTSW	10	127,122,372 (GRCm39)	missense	probably null	0.83
R3724:Mbd6	UTSW	10	127,119,760 (GRCm39)	unclassified	probably benign
R3731:Mbd6	UTSW	10	127,121,637 (GRCm39)	unclassified	probably benign
R3742:Mbd6	UTSW	10	127,120,812 (GRCm39)	unclassified	probably benign
R3800:Mbd6	UTSW	10	127,121,036 (GRCm39)	unclassified	probably benign
R5023:Mbd6	UTSW	10	127,122,310 (GRCm39)	missense	probably benign	0.16
R5024:Mbd6	UTSW	10	127,122,310 (GRCm39)	missense	probably benign	0.16
R5056:Mbd6	UTSW	10	127,122,310 (GRCm39)	missense	probably benign	0.16
R5568:Mbd6	UTSW	10	127,119,297 (GRCm39)	missense	possibly damaging	0.82
R5656:Mbd6	UTSW	10	127,121,155 (GRCm39)	unclassified	probably benign
R7607:Mbd6	UTSW	10	127,121,099 (GRCm39)	missense	unknown
R9366:Mbd6	UTSW	10	127,122,304 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATCGCTACAGTGGAAGAG -3'
(R):5'- ACTGGAGAAGACAGCATTCG -3'

Sequencing Primer
(F):5'- CACCAGGTTGGATCGGAG -3'
(R):5'- CATTCGAGGCAGGGATGGACC -3'

Posted On

2016-06-15