Mutagenetix > Incidental Mutation

Incidental Mutation 'R3800:Mbd6'

272937

Institutional Source

Beutler Lab

Gene Symbol

Mbd6

Ensembl Gene

ENSMUSG00000025409

Gene Name

methyl-CpG binding domain protein 6

Synonyms

D10Wsu93e

MMRRC Submission

040759-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3800 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

127117825-127124887 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 127121036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134527 (fasta)

Gene Model

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

AlphaFold

Q3TY92

Predicted Effect

unknown
Transcript: ENSMUST00000026476
AA Change: M539T

SMART Domains

Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: M539T

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

unknown
Transcript: ENSMUST00000119078
AA Change: M539T

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: M539T

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

unknown
Transcript: ENSMUST00000126243
AA Change: M186T

SMART Domains

Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: M186T

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

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

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: ENSMUST00000174141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174167

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

noncoding transcript
Transcript: ENSMUST00000218556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218752

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,385,025 (GRCm39)	D313E	possibly damaging	Het
Abca12	C	T	1: 71,305,046 (GRCm39)	V2070I	probably damaging	Het
Adam23	C	T	1: 63,590,933 (GRCm39)	R467*	probably null	Het
Adgrf5	T	C	17: 43,757,951 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,877,889 (GRCm39)		probably null	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap28	T	C	17: 68,180,031 (GRCm39)	D268G	probably damaging	Het
Btbd9	T	C	17: 30,732,633 (GRCm39)	I351V	possibly damaging	Het
Cacna1b	C	T	2: 24,548,971 (GRCm39)	R1138Q	probably benign	Het
Caskin1	T	G	17: 24,720,246 (GRCm39)	V456G	probably benign	Het
Ccdc96	A	G	5: 36,643,611 (GRCm39)	D539G	probably damaging	Het
Cep290	T	C	10: 100,408,803 (GRCm39)	I2425T	probably damaging	Het
Cfap251	T	C	5: 123,392,784 (GRCm39)		probably benign	Het
Col18a1	C	A	10: 76,903,221 (GRCm39)	G998*	probably null	Het
Cpe	A	G	8: 65,070,651 (GRCm39)	V198A	probably benign	Het
Cux1	A	G	5: 136,344,887 (GRCm39)	M364T	probably damaging	Het
Dock8	T	A	19: 25,141,716 (GRCm39)	N1396K	probably benign	Het
Dync2h1	A	C	9: 7,101,525 (GRCm39)	F482V	possibly damaging	Het
Eif1ad19	T	C	12: 87,740,491 (GRCm39)	K23E	possibly damaging	Het
Fat4	T	A	3: 39,035,423 (GRCm39)	V3025E	possibly damaging	Het
Fbn1	T	A	2: 125,187,894 (GRCm39)	D1545V	possibly damaging	Het
Fbxw16	T	G	9: 109,265,665 (GRCm39)	I385L	probably damaging	Het
Fnbp1	T	C	2: 30,923,143 (GRCm39)	E341G	probably damaging	Het
Gm9845	T	C	3: 39,412,642 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,889,866 (GRCm39)	Y82H	possibly damaging	Het
Habp4	C	T	13: 64,321,917 (GRCm39)	R185C	probably damaging	Het
Ift122	T	A	6: 115,902,867 (GRCm39)	S1209T	probably benign	Het
Ino80c	T	C	18: 24,254,752 (GRCm39)	Y36C	probably damaging	Het
Inpp5b	C	T	4: 124,679,138 (GRCm39)	T515I	probably damaging	Het
Kcnj6	G	A	16: 94,633,886 (GRCm39)	T75M	probably damaging	Het
Map2k4	A	T	11: 65,581,607 (GRCm39)	Y368*	probably null	Het
Mccc1	G	A	3: 36,054,658 (GRCm39)	R17W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa3	T	C	2: 165,901,639 (GRCm39)	M1004T	possibly damaging	Het
Npnt	C	A	3: 132,612,524 (GRCm39)	G87V	probably damaging	Het
Or10a4	C	T	7: 106,696,938 (GRCm39)	Q89*	probably null	Het
Or14j1	T	G	17: 38,146,848 (GRCm39)	N319K	probably benign	Het
Ppp2r1a	A	T	17: 21,182,972 (GRCm39)	D552V	possibly damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rnf34	A	G	5: 123,002,273 (GRCm39)	H77R	probably damaging	Het
Samm50	T	C	15: 84,076,575 (GRCm39)	V4A	probably damaging	Het
Sdccag8	A	T	1: 176,695,904 (GRCm39)	R403*	probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp6	A	G	9: 79,994,735 (GRCm39)	R25G	possibly damaging	Het
Shc2	C	T	10: 79,462,707 (GRCm39)	V272I	probably benign	Het
Smarcd3	T	A	5: 24,798,225 (GRCm39)	K403*	probably null	Het
Srgap2	T	A	1: 131,238,297 (GRCm39)	I672F	probably damaging	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Ubash3a	T	C	17: 31,450,444 (GRCm39)	V373A	probably benign	Het
Vav3	A	G	3: 109,535,355 (GRCm39)	K36E	probably benign	Het
Vmn2r65	A	G	7: 84,589,738 (GRCm39)	V726A	possibly 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
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
R5053: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'- ACCAAGAGTGAAGGCCCTTC -3'
(R):5'- TCAGCCTTACAGCCATCCAG -3'

Sequencing Primer
(F):5'- CTTCGGGCTCGCCTGGG -3'
(R):5'- CCAGGAAGAGGGCTTTCCAG -3'

Posted On

2015-03-25