Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Mbd3l1'

262021

Institutional Source

Beutler Lab

Gene Symbol

Mbd3l1

Ensembl Gene

ENSMUSG00000038691

Gene Name

methyl-CpG binding domain protein 3-like 1

Synonyms

1700070G05Rik, Mbd3l, 1700095H13Rik

MMRRC Submission

038306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0011 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

18389655-18396594 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 18395863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149425 (fasta)

Gene Model

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

AlphaFold

Q9D9H3

Predicted Effect

probably benign
Transcript: ENSMUST00000069218

SMART Domains

Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215255

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Alox15	A	G	11: 70,240,422 (GRCm39)	V253A	possibly damaging	Het
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Bach2	G	T	4: 32,244,655 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Celsr2	A	G	3: 108,320,718 (GRCm39)	I698T	probably benign	Het
Cenpf	A	G	1: 189,382,903 (GRCm39)	S2664P	probably benign	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Cyb5a	T	A	18: 84,895,947 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,103,844 (GRCm39)	C847S	probably damaging	Het
Dnah3	T	C	7: 119,618,924 (GRCm39)	K1648R	probably damaging	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Emilin2	C	T	17: 71,580,863 (GRCm39)	G621E	probably benign	Het
Enpp1	T	A	10: 24,545,900 (GRCm39)	K228*	probably null	Het
Epg5	T	C	18: 77,991,698 (GRCm39)	C132R	probably benign	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
G6pc2	C	A	2: 69,056,909 (GRCm39)		probably benign	Het
Gm7361	C	T	5: 26,463,876 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Hnrnpul1	T	G	7: 25,442,340 (GRCm39)		probably benign	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Insrr	T	C	3: 87,716,923 (GRCm39)	C688R	possibly damaging	Het
Itgb2l	T	C	16: 96,228,861 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Klk1	C	T	7: 43,878,959 (GRCm39)	T149I	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,252,938 (GRCm39)		probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Or8g52	T	A	9: 39,630,923 (GRCm39)	N133K	probably benign	Het
Pik3r4	C	A	9: 105,521,836 (GRCm39)	T134K	probably benign	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Sema3e	C	T	5: 14,194,025 (GRCm39)	R85*	probably null	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Slc39a11	A	T	11: 113,138,659 (GRCm39)	F279L	probably benign	Het
Slc4a1	T	C	11: 102,247,936 (GRCm39)	K353E	possibly damaging	Het
Slc6a18	A	T	13: 73,813,738 (GRCm39)	M515K	possibly damaging	Het
Snapc4	A	G	2: 26,254,825 (GRCm39)	I1225T	probably benign	Het
Spidr	A	T	16: 15,784,467 (GRCm39)	W534R	probably benign	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Tnfrsf1b	T	G	4: 144,949,536 (GRCm39)	R297S	possibly damaging	Het
Trim55	A	G	3: 19,725,163 (GRCm39)	T227A	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	probably benign	Het

Other mutations in Mbd3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Mbd3l1	APN	9	18,396,023 (GRCm39)	missense	probably damaging	1.00
R0015:Mbd3l1	UTSW	9	18,396,154 (GRCm39)	missense	probably benign	0.02
R1571:Mbd3l1	UTSW	9	18,395,947 (GRCm39)	missense	probably damaging	1.00
R1737:Mbd3l1	UTSW	9	18,396,225 (GRCm39)	missense	possibly damaging	0.46
R1762:Mbd3l1	UTSW	9	18,396,435 (GRCm39)	makesense	probably null
R4981:Mbd3l1	UTSW	9	18,396,201 (GRCm39)	missense	probably benign	0.00
R5171:Mbd3l1	UTSW	9	18,396,430 (GRCm39)	missense	probably benign
R5244:Mbd3l1	UTSW	9	18,395,933 (GRCm39)	nonsense	probably null
R6582:Mbd3l1	UTSW	9	18,396,024 (GRCm39)	missense	probably benign	0.25
R7109:Mbd3l1	UTSW	9	18,396,210 (GRCm39)	missense	possibly damaging	0.55
R7319:Mbd3l1	UTSW	9	18,396,417 (GRCm39)	missense	probably benign	0.00
R8308:Mbd3l1	UTSW	9	18,395,886 (GRCm39)	missense	probably benign	0.03
R8317:Mbd3l1	UTSW	9	18,396,117 (GRCm39)	missense	probably benign	0.01
R9487:Mbd3l1	UTSW	9	18,396,274 (GRCm39)	missense	probably benign	0.40
RF014:Mbd3l1	UTSW	9	18,396,296 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

Posted On

2015-02-04