Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:L3mbtl1'

460144

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl1

Ensembl Gene

ENSMUSG00000035576

Gene Name

L3MBTL1 histone methyl-lysine binding protein

Synonyms

L3MBTL1

MMRRC Submission

044125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5930 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

162943472-162974522 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GGCCG to GG at 162967336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035751]

AlphaFold

A2A5N8

Predicted Effect

probably benign
Transcript: ENSMUST00000035751

SMART Domains

Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576

Domain	Start	End	E-Value	Type
low complexity region	234	242	N/A	INTRINSIC
MBT	280	380	5.34e-53	SMART
MBT	388	487	2.17e-53	SMART
MBT	496	591	1.49e-51	SMART
Pfam:zf-C2HC	627	655	1.7e-17	PFAM
SAM	754	821	3.49e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153416

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,397,451	V5572I	probably benign	Het
AF366264	T	A	8: 13,837,263	D276V	probably benign	Het
Agap1	C	T	1: 89,843,096	T656I	probably damaging	Het
Als2cl	C	T	9: 110,887,364	R247W	probably damaging	Het
Ankfy1	A	T	11: 72,712,245	R33S	probably benign	Het
Ano5	T	C	7: 51,585,331	F671L	probably damaging	Het
Arhgap26	A	G	18: 39,150,092	M361V	probably damaging	Het
Bckdk	A	G	7: 127,905,973	E175G	probably damaging	Het
Bptf	G	T	11: 107,073,196	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,486,228	I112F	probably damaging	Het
Cd163l1	C	T	7: 140,230,446	P984S	probably benign	Het
Cln8	T	A	8: 14,896,621	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119	E300G	probably benign	Het
Cnksr3	T	C	10: 7,142,993	I173V	probably benign	Het
Cntn2	T	A	1: 132,523,432	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,491,410	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,629,983	R275Q	possibly damaging	Het
Def8	C	T	8: 123,460,070		probably benign	Het
Dnah10	T	C	5: 124,791,791		probably null	Het
Dock6	A	G	9: 21,824,416	V1012A	probably benign	Het
Dus3l	T	A	17: 56,769,579	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,860,268	I362F	probably damaging	Het
Dyx1c1	T	C	9: 72,971,998	V356A	probably damaging	Het
Erc2	T	A	14: 27,776,858	D230E	probably damaging	Het
Fam102b	A	T	3: 108,980,152	S265R	probably benign	Het
Fat1	A	G	8: 45,044,036	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,156,595	F179S	probably damaging	Het
Fech	A	G	18: 64,478,649		probably null	Het
Fer1l5	T	A	1: 36,385,173	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756	D7V	probably benign	Het
Flvcr1	G	T	1: 191,009,551	T514K	probably damaging	Het
Fmo1	A	T	1: 162,839,616		probably null	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gli3	A	G	13: 15,548,625	Y117C	probably damaging	Het
Gnao1	A	G	8: 93,896,245	D59G	probably benign	Het
Gria2	T	C	3: 80,707,249	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,863,985	H161Q	probably benign	Het
Itga8	T	A	2: 12,230,208	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,110,921	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,530,829	N337S	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,785,636		probably benign	Het
Mchr1	T	C	15: 81,237,843	F265L	probably damaging	Het
Megf8	T	A	7: 25,326,441	Y83*	probably null	Het
Mettl18	A	G	1: 163,997,177	M356V	probably null	Het
Mrm1	G	A	11: 84,819,192	R61W	probably damaging	Het
Muc4	A	T	16: 32,751,705	T528S	probably benign	Het
Myef2	A	T	2: 125,095,731	L530*	probably null	Het
Nhlrc4	T	C	17: 25,943,719	E18G	probably benign	Het
Nisch	C	T	14: 31,173,145	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,834,149	R97H	probably damaging	Het
Nos2	T	C	11: 78,937,915	L321S	probably damaging	Het
Oaz3	T	C	3: 94,436,410	M49V	possibly damaging	Het
Olfm5	A	G	7: 104,154,155	V367A	probably damaging	Het
Olfr130	C	A	17: 38,067,750	A193D	probably benign	Het
Olfr1335	C	T	4: 118,809,378	R162H	probably benign	Het
Olfr564	A	T	7: 102,804,274	R265S	probably damaging	Het
Olfr742	C	A	14: 50,515,792	A196D	probably benign	Het
Olfr77	A	G	9: 19,920,910	K234E	probably damaging	Het
Omd	C	T	13: 49,589,636	P54L	possibly damaging	Het
Pard3b	T	A	1: 61,768,130		probably benign	Het
Pcdhb18	A	C	18: 37,491,935	I773L	possibly damaging	Het
Pde11a	T	C	2: 76,139,831		probably null	Het
Pfkfb4	A	C	9: 109,030,394		probably benign	Het
Phb2	T	G	6: 124,715,649	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,958,969	T345I	unknown	Het
Pla2g6	T	C	15: 79,303,528		probably benign	Het
Pou4f2	G	A	8: 78,436,391	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002		probably null	Het
Pramel5	A	G	4: 144,272,983	I178T	probably benign	Het
Prom2	C	T	2: 127,530,133	W745*	probably null	Het
Pros1	T	A	16: 62,928,061	N632K	probably damaging	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rbm25	T	A	12: 83,677,866	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,718,030		probably null	Het
Rps6ka1	A	T	4: 133,871,571	L97I	probably damaging	Het
Sergef	T	A	7: 46,443,464	T374S	probably benign	Het
Sh3rf3	G	T	10: 59,130,986	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,721,402	T500I	possibly damaging	Het
Smc1b	T	A	15: 85,086,121	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,727,015	C902Y	probably benign	Het
St14	A	T	9: 31,103,760	V314D	probably damaging	Het
Stat3	A	T	11: 100,893,670	I602N	possibly damaging	Het
Stx4a	T	A	7: 127,846,489	I189N	probably damaging	Het
Tacc1	A	G	8: 25,182,199	S338P	probably benign	Het
Tcirg1	T	A	19: 3,902,424	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,854,719	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,603,911	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,801,454	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,605,953	Q237R	probably damaging	Het
Trim15	C	T	17: 36,862,360		probably null	Het
Trim30a	T	A	7: 104,421,450	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,430,878	E227G	probably benign	Het
Ttll13	A	G	7: 80,253,166	E194G	probably damaging	Het
Upf1	G	A	8: 70,344,262	T107I	probably benign	Het
Vac14	A	G	8: 110,710,349	I565V	probably damaging	Het
Zcchc14	A	T	8: 121,611,358		probably benign	Het

Other mutations in L3mbtl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:L3mbtl1	APN	2	162967063	missense	probably damaging	1.00
IGL01090:L3mbtl1	APN	2	162966005	missense	probably damaging	1.00
IGL01291:L3mbtl1	APN	2	162970180	missense	probably benign	0.30
IGL02897:L3mbtl1	APN	2	162965772	missense	probably damaging	1.00
IGL02974:L3mbtl1	APN	2	162970183	missense	possibly damaging	0.68
IGL02986:L3mbtl1	APN	2	162970305	missense	probably damaging	1.00
IGL03057:L3mbtl1	APN	2	162967383	missense	probably damaging	1.00
IGL03372:L3mbtl1	APN	2	162971157	splice site	probably benign
ANU05:L3mbtl1	UTSW	2	162970180	missense	probably benign	0.30
R0006:L3mbtl1	UTSW	2	162964569	missense	possibly damaging	0.94
R0006:L3mbtl1	UTSW	2	162964569	missense	possibly damaging	0.94
R0067:L3mbtl1	UTSW	2	162948828	missense	probably damaging	1.00
R0067:L3mbtl1	UTSW	2	162948828	missense	probably damaging	1.00
R0078:L3mbtl1	UTSW	2	162947226	missense	probably benign	0.12
R0505:L3mbtl1	UTSW	2	162947335	splice site	probably benign
R0748:L3mbtl1	UTSW	2	162971163	splice site	probably benign
R0748:L3mbtl1	UTSW	2	162971164	critical splice acceptor site	probably null
R0761:L3mbtl1	UTSW	2	162966047	missense	probably damaging	1.00
R1789:L3mbtl1	UTSW	2	162974502	missense	probably benign
R1970:L3mbtl1	UTSW	2	162959572	missense	probably damaging	1.00
R2114:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2115:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2116:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2117:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2513:L3mbtl1	UTSW	2	162967585	missense	probably benign
R3848:L3mbtl1	UTSW	2	162948201	missense	probably damaging	1.00
R4877:L3mbtl1	UTSW	2	162948568	missense	probably damaging	0.98
R4930:L3mbtl1	UTSW	2	162965772	missense	probably damaging	1.00
R5932:L3mbtl1	UTSW	2	162967336	small deletion	probably benign
R6562:L3mbtl1	UTSW	2	162970204	missense	probably benign	0.28
R6601:L3mbtl1	UTSW	2	162948175	start gained	probably benign
R6995:L3mbtl1	UTSW	2	162961448	missense	probably damaging	1.00
R7188:L3mbtl1	UTSW	2	162949540	critical splice donor site	probably null
R7346:L3mbtl1	UTSW	2	162967006	missense	probably benign	0.01
R7379:L3mbtl1	UTSW	2	162960979	missense	probably damaging	1.00
R7474:L3mbtl1	UTSW	2	162966604	missense	probably damaging	1.00
R7553:L3mbtl1	UTSW	2	162948231	missense	probably benign	0.01
R7599:L3mbtl1	UTSW	2	162964514	missense	possibly damaging	0.70
R8745:L3mbtl1	UTSW	2	162970217	missense	probably benign	0.08
R8910:L3mbtl1	UTSW	2	162970293	missense	probably benign	0.00
R9039:L3mbtl1	UTSW	2	162966068	missense	probably damaging	1.00
R9216:L3mbtl1	UTSW	2	162965052	missense	probably benign	0.04
R9253:L3mbtl1	UTSW	2	162947712	missense	probably benign	0.00
R9483:L3mbtl1	UTSW	2	162948814	missense	probably benign	0.01
R9509:L3mbtl1	UTSW	2	162967383	missense	probably damaging	1.00
R9683:L3mbtl1	UTSW	2	162970308	missense	possibly damaging	0.88
R9688:L3mbtl1	UTSW	2	162948777	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGCAGGTATCGTTCAGGTATTTACAG -3'
(R):5'- AGCTGCCTCAGGAAGACATG -3'

Sequencing Primer
(F):5'- GTGAGACCCATCCGCATTC -3'
(R):5'- CTCAGGAAGACATGAGGCCC -3'

Posted On

2017-02-28