Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:L3mbtl1'

47442

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl1

Ensembl Gene

ENSMUSG00000035576

Gene Name

L3MBTL1 histone methyl-lysine binding protein

Synonyms

L3MBTL1

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162785392-162816442 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 162789255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035751] [ENSMUST00000124264] [ENSMUST00000156954]

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

probably benign
Transcript: ENSMUST00000124264

SMART Domains

Protein: ENSMUSP00000116118
Gene: ENSMUSG00000035576

Domain	Start	End	E-Value	Type
low complexity region	107	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153416

Predicted Effect

probably benign
Transcript: ENSMUST00000156954

SMART Domains

Protein: ENSMUSP00000123217
Gene: ENSMUSG00000035576

Domain	Start	End	E-Value	Type
low complexity region	234	242	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably damaging	Het

Other mutations in L3mbtl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:L3mbtl1	APN	2	162,808,983 (GRCm39)	missense	probably damaging	1.00
IGL01090:L3mbtl1	APN	2	162,807,925 (GRCm39)	missense	probably damaging	1.00
IGL01291:L3mbtl1	APN	2	162,812,100 (GRCm39)	missense	probably benign	0.30
IGL02897:L3mbtl1	APN	2	162,807,692 (GRCm39)	missense	probably damaging	1.00
IGL02974:L3mbtl1	APN	2	162,812,103 (GRCm39)	missense	possibly damaging	0.68
IGL02986:L3mbtl1	APN	2	162,812,225 (GRCm39)	missense	probably damaging	1.00
IGL03057:L3mbtl1	APN	2	162,809,303 (GRCm39)	missense	probably damaging	1.00
IGL03372:L3mbtl1	APN	2	162,813,077 (GRCm39)	splice site	probably benign
ANU05:L3mbtl1	UTSW	2	162,812,100 (GRCm39)	missense	probably benign	0.30
R0006:L3mbtl1	UTSW	2	162,806,489 (GRCm39)	missense	possibly damaging	0.94
R0006:L3mbtl1	UTSW	2	162,806,489 (GRCm39)	missense	possibly damaging	0.94
R0067:L3mbtl1	UTSW	2	162,790,748 (GRCm39)	missense	probably damaging	1.00
R0067:L3mbtl1	UTSW	2	162,790,748 (GRCm39)	missense	probably damaging	1.00
R0078:L3mbtl1	UTSW	2	162,789,146 (GRCm39)	missense	probably benign	0.12
R0748:L3mbtl1	UTSW	2	162,813,084 (GRCm39)	critical splice acceptor site	probably null
R0748:L3mbtl1	UTSW	2	162,813,083 (GRCm39)	splice site	probably benign
R0761:L3mbtl1	UTSW	2	162,807,967 (GRCm39)	missense	probably damaging	1.00
R1789:L3mbtl1	UTSW	2	162,816,422 (GRCm39)	missense	probably benign
R1970:L3mbtl1	UTSW	2	162,801,492 (GRCm39)	missense	probably damaging	1.00
R2114:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2115:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2116:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2117:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2513:L3mbtl1	UTSW	2	162,809,505 (GRCm39)	missense	probably benign
R3848:L3mbtl1	UTSW	2	162,790,121 (GRCm39)	missense	probably damaging	1.00
R4877:L3mbtl1	UTSW	2	162,790,488 (GRCm39)	missense	probably damaging	0.98
R4930:L3mbtl1	UTSW	2	162,807,692 (GRCm39)	missense	probably damaging	1.00
R5930:L3mbtl1	UTSW	2	162,809,256 (GRCm39)	small deletion	probably benign
R5932:L3mbtl1	UTSW	2	162,809,256 (GRCm39)	small deletion	probably benign
R6562:L3mbtl1	UTSW	2	162,812,124 (GRCm39)	missense	probably benign	0.28
R6601:L3mbtl1	UTSW	2	162,790,095 (GRCm39)	start gained	probably benign
R6995:L3mbtl1	UTSW	2	162,803,368 (GRCm39)	missense	probably damaging	1.00
R7188:L3mbtl1	UTSW	2	162,791,460 (GRCm39)	critical splice donor site	probably null
R7346:L3mbtl1	UTSW	2	162,808,926 (GRCm39)	missense	probably benign	0.01
R7379:L3mbtl1	UTSW	2	162,802,899 (GRCm39)	missense	probably damaging	1.00
R7474:L3mbtl1	UTSW	2	162,808,524 (GRCm39)	missense	probably damaging	1.00
R7553:L3mbtl1	UTSW	2	162,790,151 (GRCm39)	missense	probably benign	0.01
R7599:L3mbtl1	UTSW	2	162,806,434 (GRCm39)	missense	possibly damaging	0.70
R8745:L3mbtl1	UTSW	2	162,812,137 (GRCm39)	missense	probably benign	0.08
R8910:L3mbtl1	UTSW	2	162,812,213 (GRCm39)	missense	probably benign	0.00
R9039:L3mbtl1	UTSW	2	162,807,988 (GRCm39)	missense	probably damaging	1.00
R9216:L3mbtl1	UTSW	2	162,806,972 (GRCm39)	missense	probably benign	0.04
R9253:L3mbtl1	UTSW	2	162,789,632 (GRCm39)	missense	probably benign	0.00
R9483:L3mbtl1	UTSW	2	162,790,734 (GRCm39)	missense	probably benign	0.01
R9509:L3mbtl1	UTSW	2	162,809,303 (GRCm39)	missense	probably damaging	1.00
R9683:L3mbtl1	UTSW	2	162,812,228 (GRCm39)	missense	possibly damaging	0.88
R9688:L3mbtl1	UTSW	2	162,790,697 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTCTAAGCTGCTGGCTTGAGAATGG -3'
(R):5'- GTCCAATCCAGAAGCCTGACTGTG -3'

Sequencing Primer
(F):5'- AGTTTCTCCTCCAAGAAGCC -3'
(R):5'- tttgggaggcagatttaggg -3'

Posted On

2013-06-12