Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Mbd3l2'

567051

Institutional Source

Beutler Lab

Gene Symbol

Mbd3l2

Ensembl Gene

ENSMUSG00000047508

Gene Name

methyl-CpG binding domain protein 3-like 2

Synonyms

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18341950-18357612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18355738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 21 (S21N)

Ref Sequence

ENSEMBL: ENSMUSP00000054515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051008] [ENSMUST00000213777]

AlphaFold

Q3UXB0

Predicted Effect

probably benign
Transcript: ENSMUST00000051008
AA Change: S21N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054515
Gene: ENSMUSG00000047508
AA Change: S21N

Domain	Start	End	E-Value	Type
Pfam:MBDa	28	102	5.5e-28	PFAM
Pfam:MBD_C	105	212	2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213777
AA Change: S21N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	Het

Other mutations in Mbd3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1862:Mbd3l2	UTSW	9	18,356,217 (GRCm39)	missense	possibly damaging	0.93
R1863:Mbd3l2	UTSW	9	18,356,217 (GRCm39)	missense	possibly damaging	0.93
R2137:Mbd3l2	UTSW	9	18,356,254 (GRCm39)	missense	probably damaging	1.00
R2138:Mbd3l2	UTSW	9	18,356,254 (GRCm39)	missense	probably damaging	1.00
R2139:Mbd3l2	UTSW	9	18,356,254 (GRCm39)	missense	probably damaging	1.00
R3853:Mbd3l2	UTSW	9	18,356,092 (GRCm39)	missense	probably benign	0.27
R4726:Mbd3l2	UTSW	9	18,356,256 (GRCm39)	missense	probably damaging	1.00
R6047:Mbd3l2	UTSW	9	18,356,212 (GRCm39)	missense	possibly damaging	0.79
R6864:Mbd3l2	UTSW	9	18,354,795 (GRCm39)	splice site	probably benign
R8247:Mbd3l2	UTSW	9	18,356,299 (GRCm39)	missense	probably damaging	1.00
R8345:Mbd3l2	UTSW	9	18,355,779 (GRCm39)	missense	probably benign	0.00
R8898:Mbd3l2	UTSW	9	18,355,914 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCATGCTGTGATCTGAGATC -3'
(R):5'- ACCTGGTTTCATTCTCAGGGTATG -3'

Sequencing Primer
(F):5'- AATCTCAACTGGGCAGTGGTG -3'
(R):5'- CAGGGTATGAAGTTATTGTGGTCAC -3'

Posted On

2019-06-26