Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:L3mbtl1'

420366

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L3mbtl1

Ensembl Gene

ENSMUSG00000035576

Gene Name

L3MBTL1 histone methyl-lysine binding protein

Synonyms

L3MBTL1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

162943472-162974522 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 162971157 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

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Col5a3	G	A	9: 20,775,328	P1334S	unknown	Het
Dab2	T	C	15: 6,429,549	L293P	probably damaging	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
Larp1b	A	T	3: 41,024,527	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rad50	T	C	11: 53,695,294	K292E	probably benign	Het
Rbm27	G	A	18: 42,305,716	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably damaging	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
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
R5930:L3mbtl1	UTSW	2	162967336	small deletion	probably benign
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

Posted On

2016-08-02