Mutagenetix > Incidental Mutations

Incidental Mutation 'R0015:Mbd3l1'

216017

Institutional Source

Beutler Lab

Gene Symbol

Mbd3l1

Ensembl Gene

ENSMUSG00000038691

Gene Name

methyl-CpG binding domain protein 3-like 1

Synonyms

Mbd3l, 1700070G05Rik, 1700095H13Rik

MMRRC Submission

038310-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

18478359-18485298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18484858 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 93 (D93V)

Ref Sequence

ENSEMBL: ENSMUSP00000149425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069218] [ENSMUST00000213625] [ENSMUST00000215255]

Predicted Effect

probably benign
Transcript: ENSMUST00000069218
AA Change: D93V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691
AA Change: D93V

Domain	Start	End	E-Value	Type
Pfam:MBDa	3	74	8.5e-31	PFAM
Pfam:MBD_C	78	166	1.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213625
AA Change: D93V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000215255
AA Change: D93V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Aldh6a1	G	A	12: 84,441,780	L86F	probably damaging	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Astn2	T	G	4: 66,266,382		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,477,557		probably benign	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fchsd1	A	G	18: 37,962,959	C533R	probably benign	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		probably benign	Het

Other mutations in Mbd3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Mbd3l1	APN	9	18484727	missense	probably damaging	1.00
R0011:Mbd3l1	UTSW	9	18484567	start gained	probably benign
R1571:Mbd3l1	UTSW	9	18484651	missense	probably damaging	1.00
R1737:Mbd3l1	UTSW	9	18484929	missense	possibly damaging	0.46
R1762:Mbd3l1	UTSW	9	18485139	makesense	probably null
R4981:Mbd3l1	UTSW	9	18484905	missense	probably benign	0.00
R5171:Mbd3l1	UTSW	9	18485134	missense	probably benign
R5244:Mbd3l1	UTSW	9	18484637	nonsense	probably null
R6582:Mbd3l1	UTSW	9	18484728	missense	probably benign	0.25
R7109:Mbd3l1	UTSW	9	18484914	missense	possibly damaging	0.55
R7319:Mbd3l1	UTSW	9	18485121	missense	probably benign	0.00
R8308:Mbd3l1	UTSW	9	18484590	missense	probably benign	0.03
R8317:Mbd3l1	UTSW	9	18484821	missense	probably benign	0.01
RF014:Mbd3l1	UTSW	9	18485000	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GTCAGATGGGCAAGACTTCACAGAG -3'
(R):5'- TGTGTGCAATCAACGCCACTGC -3'

Sequencing Primer
(F):5'- GTTATACATTCAAGAGGCCAGTCAC -3'
(R):5'- TCAACGCCACTGCCAGTC -3'

Posted On

2014-07-17