Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Mbd6'

442338

Institutional Source

Beutler Lab

Gene Symbol

Mbd6

Ensembl Gene

ENSMUSG00000025409

Gene Name

methyl-CpG binding domain protein 6

Synonyms

D10Wsu93e

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127117825-127124887 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 127121155 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: D499E

SMART Domains

Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: D499E

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: D499E

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: D499E

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: D146E

SMART Domains

Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: D146E

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: 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

noncoding transcript
Transcript: ENSMUST00000218752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Adrb3	T	C	8: 27,717,405 (GRCm39)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,587,587 (GRCm39)	V1959A	probably benign	Het
Bicral	G	A	17: 47,119,295 (GRCm39)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,435,912 (GRCm39)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,445,930 (GRCm39)	V414A	probably benign	Het
Cd22	T	G	7: 30,569,198 (GRCm39)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,555,247 (GRCm39)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,503,393 (GRCm39)	N852K	probably benign	Het
Cpa6	T	A	1: 10,399,739 (GRCm39)	H363L	probably benign	Het
Ddx18	A	T	1: 121,489,087 (GRCm39)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,210 (GRCm39)	D3849G	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Efs	T	C	14: 55,154,584 (GRCm39)	T552A	probably damaging	Het
Fbp1	C	A	13: 63,023,010 (GRCm39)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,261,826 (GRCm39)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,660,430 (GRCm39)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,143,542 (GRCm39)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,743,191 (GRCm39)		probably null	Het
Klhl41	T	A	2: 69,513,876 (GRCm39)	I585N	possibly damaging	Het
Map6	A	G	7: 98,985,505 (GRCm39)	K470E	probably damaging	Het
Mast3	T	C	8: 71,238,865 (GRCm39)	T496A	probably damaging	Het
Melk	A	G	4: 44,312,237 (GRCm39)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,086,759 (GRCm39)	V152A	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Nav3	A	C	10: 109,600,494 (GRCm39)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,338,685 (GRCm39)	R651*	probably null	Het
Or1e1f	T	A	11: 73,855,536 (GRCm39)	M34K	probably damaging	Het
Or5b121	A	G	19: 13,507,744 (GRCm39)	T280A	probably benign	Het
Or5p72	A	G	7: 108,021,825 (GRCm39)	I16V	probably benign	Het
P2rx7	A	T	5: 122,811,780 (GRCm39)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,264,447 (GRCm39)	D2G	probably benign	Het
Phc3	G	T	3: 31,020,015 (GRCm39)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,073,711 (GRCm39)		probably null	Het
Prdm10	C	T	9: 31,264,713 (GRCm39)	T667M	probably benign	Het
Pwwp2b	T	A	7: 138,835,887 (GRCm39)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,467,035 (GRCm39)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,526,962 (GRCm39)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,378,508 (GRCm39)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,656,567 (GRCm39)	D266G	probably damaging	Het
Shank1	T	C	7: 44,002,310 (GRCm39)	V1343A	probably benign	Het
Slf2	T	A	19: 44,961,674 (GRCm39)	D1064E	probably benign	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Smg1	A	T	7: 117,753,887 (GRCm39)		probably benign	Het
Sptlc2	A	T	12: 87,393,535 (GRCm39)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,811,460 (GRCm39)	S93P	probably damaging	Het
Sult1c2	T	C	17: 54,271,680 (GRCm39)	E169G	probably benign	Het
Sv2a	A	G	3: 96,092,888 (GRCm39)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,813,754 (GRCm39)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,681,797 (GRCm39)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,457,690 (GRCm39)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,098,628 (GRCm39)	Y68N	probably benign	Het
Ttn	T	G	2: 76,604,998 (GRCm39)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,356,433 (GRCm39)	V95A	probably damaging	Het
Usp17ld	A	G	7: 102,900,047 (GRCm39)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,152 (GRCm39)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,113,575 (GRCm39)	R176*	probably null	Het
Zbtb46	A	G	2: 181,065,210 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,785,848 (GRCm39)	V233A	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
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
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
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'- CACCAAATAAACTGTGGCTAAGG -3'
(R):5'- TCAGCCTTACAGCCATCCAG -3'

Sequencing Primer
(F):5'- CCAAATAAACTGTGGCTAAGGAATGG -3'
(R):5'- GGGGTAGTTTGGAGAGCACTC -3'

Posted On

2016-11-09