Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Mbd6'

588387

Institutional Source

Beutler Lab

Gene Symbol

Mbd6

Ensembl Gene

ENSMUSG00000025409

Gene Name

methyl-CpG binding domain protein 6

Synonyms

D10Wsu93e

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127281956-127289018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127285230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 518 (E518G)

Ref Sequence

ENSEMBL: ENSMUSP00000112805 (fasta)

Gene Model

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

AlphaFold

Q3TY92

Predicted Effect

unknown
Transcript: ENSMUST00000026476
AA Change: E518G

SMART Domains

Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: E518G

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: E518G

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: E518G

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: E165G

SMART Domains

Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: E165G

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557 (GRCm38)	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762 (GRCm38)	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989 (GRCm38)		probably null	Het
Abca7	T	C	10: 80,011,833 (GRCm38)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459 (GRCm38)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419 (GRCm38)	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107 (GRCm38)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011 (GRCm38)		probably null	Het
Atp7b	T	G	8: 22,011,506 (GRCm38)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321 (GRCm38)	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857 (GRCm38)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331 (GRCm38)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981 (GRCm38)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069 (GRCm38)	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm38)	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856 (GRCm38)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409 (GRCm38)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732 (GRCm38)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936 (GRCm38)	L156*	probably null	Het
Gk5	A	T	9: 96,153,210 (GRCm38)		probably null	Het
Gm3573	A	G	14: 42,189,750 (GRCm38)	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260 (GRCm38)	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940 (GRCm38)	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412 (GRCm38)	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897 (GRCm38)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465 (GRCm38)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177 (GRCm38)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190 (GRCm38)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758 (GRCm38)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269 (GRCm38)		probably null	Het
Knl1	T	C	2: 119,095,133 (GRCm38)	F1881S	possibly damaging	Het
Mlh1	A	G	9: 111,229,890 (GRCm38)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940 (GRCm38)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708 (GRCm38)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm38)	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814 (GRCm38)	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873 (GRCm38)	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265 (GRCm38)	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882 (GRCm38)	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930 (GRCm38)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628 (GRCm38)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976 (GRCm38)	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752 (GRCm38)	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021 (GRCm38)	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783 (GRCm38)	E128G	probably benign	Het
Radil	A	G	5: 142,506,613 (GRCm38)	I420T	probably damaging	Het
Radil	A	T	5: 142,494,795 (GRCm38)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,049,572 (GRCm38)	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738 (GRCm38)	P13S		Het
Slc18a2	C	A	19: 59,284,358 (GRCm38)	A364D	probably benign	Het
Snph	C	T	2: 151,594,586 (GRCm38)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264 (GRCm38)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713 (GRCm38)	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962 (GRCm38)	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592 (GRCm38)	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727 (GRCm38)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979 (GRCm38)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658 (GRCm38)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829 (GRCm38)	T40A	unknown	Het
Terb2	G	T	2: 122,186,475 (GRCm38)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440 (GRCm38)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732 (GRCm38)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535 (GRCm38)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn1r48	C	A	6: 90,035,980 (GRCm38)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640 (GRCm38)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308 (GRCm38)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231 (GRCm38)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742 (GRCm38)	D992E	possibly damaging	Het

Other mutations in Mbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Mbd6	APN	10	127,284,119 (GRCm38)	unclassified	probably benign
IGL01685:Mbd6	APN	10	127,284,732 (GRCm38)	unclassified	probably benign
IGL02741:Mbd6	APN	10	127,287,394 (GRCm38)	critical splice donor site	probably null
IGL03090:Mbd6	APN	10	127,287,144 (GRCm38)	missense	probably damaging	1.00
IGL03395:Mbd6	APN	10	127,283,417 (GRCm38)	missense	probably damaging	1.00
R0041:Mbd6	UTSW	10	127,286,872 (GRCm38)	missense	probably damaging	1.00
R0480:Mbd6	UTSW	10	127,285,873 (GRCm38)	unclassified	probably benign
R0507:Mbd6	UTSW	10	127,283,520 (GRCm38)	unclassified	probably benign
R1686:Mbd6	UTSW	10	127,287,417 (GRCm38)	missense	probably damaging	0.99
R3418:Mbd6	UTSW	10	127,286,503 (GRCm38)	missense	probably null	0.83
R3419:Mbd6	UTSW	10	127,286,503 (GRCm38)	missense	probably null	0.83
R3724:Mbd6	UTSW	10	127,283,891 (GRCm38)	unclassified	probably benign
R3731:Mbd6	UTSW	10	127,285,768 (GRCm38)	unclassified	probably benign
R3742:Mbd6	UTSW	10	127,284,943 (GRCm38)	unclassified	probably benign
R3800:Mbd6	UTSW	10	127,285,167 (GRCm38)	unclassified	probably benign
R5023:Mbd6	UTSW	10	127,286,441 (GRCm38)	missense	probably benign	0.16
R5024:Mbd6	UTSW	10	127,286,441 (GRCm38)	missense	probably benign	0.16
R5053:Mbd6	UTSW	10	127,286,441 (GRCm38)	missense	probably benign	0.16
R5056:Mbd6	UTSW	10	127,286,441 (GRCm38)	missense	probably benign	0.16
R5568:Mbd6	UTSW	10	127,283,428 (GRCm38)	missense	possibly damaging	0.82
R5656:Mbd6	UTSW	10	127,285,286 (GRCm38)	unclassified	probably benign
R9366:Mbd6	UTSW	10	127,286,435 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCAAGAGTGAAGGCCCTTC -3'
(R):5'- GGGTAGTTTGGAGAGCACTC -3'

Sequencing Primer
(F):5'- GGCAACAGGGGCTCAGG -3'
(R):5'- TCTGTGGGTGCCAGGAAGAG -3'

Posted On

2019-10-24