Mutagenetix > Incidental Mutation

Incidental Mutation 'R3724:Mbd6'

270687

Institutional Source

Beutler Lab

Gene Symbol

Mbd6

Ensembl Gene

ENSMUSG00000025409

Gene Name

methyl-CpG binding domain protein 6

Synonyms

D10Wsu93e

MMRRC Submission

040715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3724 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

127117825-127124887 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 127119760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114590 (fasta)

Gene Model

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

AlphaFold

Q3TY92

Predicted Effect

unknown
Transcript: ENSMUST00000026476
AA Change: A821T

SMART Domains

Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: A821T

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: A819T

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: A819T

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: A467T

SMART Domains

Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: A467T

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

unknown
Transcript: ENSMUST00000172567
AA Change: A87T

SMART Domains

Protein: ENSMUSP00000134527
Gene: ENSMUSG00000025409
AA Change: A87T

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: ENSMUST00000172591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218556

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,876,099 (GRCm39)	R133L	probably damaging	Het
Abhd8	G	A	8: 71,914,136 (GRCm39)	A164V	probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atl1	A	G	12: 70,006,154 (GRCm39)	T487A	probably damaging	Het
C2cd6	C	T	1: 59,105,394 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Ccna1	T	C	3: 54,958,353 (GRCm39)	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039 (GRCm39)	C386R	probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ctdp1	C	T	18: 80,502,482 (GRCm39)	V143I	probably benign	Het
Cyp11a1	A	T	9: 57,926,605 (GRCm39)	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,566 (GRCm39)	L956P	probably benign	Het
Enkd1	A	T	8: 106,430,557 (GRCm39)	V326E	possibly damaging	Het
Epha4	A	G	1: 77,403,180 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,254,662 (GRCm39)	D66G	probably damaging	Het
Evi5l	A	G	8: 4,228,080 (GRCm39)		probably benign	Het
Foxf2	A	G	13: 31,814,513 (GRCm39)	K409R	probably damaging	Het
Frem3	A	G	8: 81,341,900 (GRCm39)	T1398A	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gtdc1	T	C	2: 44,646,319 (GRCm39)	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,565,269 (GRCm39)	Y2286F	possibly damaging	Het
Iars1	A	G	13: 49,840,860 (GRCm39)		probably null	Het
Ifna5	A	G	4: 88,754,171 (GRCm39)	E137G	probably damaging	Het
Itih4	G	A	14: 30,614,541 (GRCm39)	E468K	possibly damaging	Het
Kat6a	A	T	8: 23,352,804 (GRCm39)	H196L	probably damaging	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,140,603 (GRCm39)	V680I	probably damaging	Het
Marchf7	T	C	2: 60,060,089 (GRCm39)	I72T	probably benign	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mindy3	T	A	2: 12,360,165 (GRCm39)	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,355,073 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,020,802 (GRCm39)	T430S	probably benign	Het
Or4ac1-ps1	T	G	2: 88,370,630 (GRCm39)		noncoding transcript	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Prkce	A	T	17: 86,476,051 (GRCm39)	K11*	probably null	Het
Pros1	T	C	16: 62,720,692 (GRCm39)	I117T	possibly damaging	Het
Prpf38b	T	C	3: 108,811,656 (GRCm39)		probably benign	Het
Sh3rf1	T	C	8: 61,825,756 (GRCm39)	S584P	probably benign	Het
Slit2	T	C	5: 48,414,225 (GRCm39)		probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,534,448 (GRCm39)	E280K	probably damaging	Het
Tenm3	A	G	8: 48,730,781 (GRCm39)	I1329T	probably damaging	Het
Tex2	G	A	11: 106,420,156 (GRCm39)	T869I	unknown	Het
Tlk2	A	G	11: 105,138,390 (GRCm39)	T281A	probably benign	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,260,396 (GRCm39)	F702L	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,362,706 (GRCm39)	T693S	probably benign	Het
Zfand2b	A	G	1: 75,146,499 (GRCm39)	K125E	possibly damaging	Het
Zfp422	C	T	6: 116,603,340 (GRCm39)	A220T	probably benign	Het
Zfp747	A	T	7: 126,973,762 (GRCm39)	V136D	probably benign	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
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
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'- CATTGAAGCCACCACGTGTC -3'
(R):5'- CTGCTACAGAGTCTCCAGGTAAG -3'

Sequencing Primer
(F):5'- GTGTCCCCCACTTGAGTGCTAG -3'
(R):5'- CTCCAGGTAAGAGGATGGGTCTC -3'

Posted On

2015-03-18