Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:L3mbtl3'

700028

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26150366-26251967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26212155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 255 (M255I)

Ref Sequence

ENSEMBL: ENSMUSP00000101158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]

AlphaFold

Q8BLB7

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: M280I

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: M280I

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000105519
AA Change: M255I

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: M255I

Domain	Start	End	E-Value	Type
low complexity region	129	141	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
MBT	207	307	3.75e-48	SMART
MBT	315	414	3.67e-42	SMART
MBT	423	518	7.5e-48	SMART
low complexity region	579	590	N/A	INTRINSIC
low complexity region	637	745	N/A	INTRINSIC
SAM	783	850	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174766
AA Change: M280I

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: M280I

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	Het

Other mutations in L3mbtl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:L3mbtl3	APN	10	26,189,744 (GRCm39)	critical splice donor site	probably null
IGL01357:L3mbtl3	APN	10	26,206,083 (GRCm39)	missense	unknown
IGL01712:L3mbtl3	APN	10	26,152,133 (GRCm39)	missense	probably damaging	0.96
IGL01759:L3mbtl3	APN	10	26,207,798 (GRCm39)	missense	unknown
IGL01928:L3mbtl3	APN	10	26,206,143 (GRCm39)	missense	unknown
IGL01955:L3mbtl3	APN	10	26,194,336 (GRCm39)	missense	unknown
IGL02674:L3mbtl3	APN	10	26,158,711 (GRCm39)	missense	unknown
IGL02731:L3mbtl3	APN	10	26,220,074 (GRCm39)	critical splice donor site	probably null
IGL03188:L3mbtl3	APN	10	26,218,515 (GRCm39)	missense	unknown
IGL03252:L3mbtl3	APN	10	26,207,710 (GRCm39)	splice site	probably benign
IGL03298:L3mbtl3	APN	10	26,158,696 (GRCm39)	missense	unknown
IGL03400:L3mbtl3	APN	10	26,191,424 (GRCm39)	missense	unknown
R0121:L3mbtl3	UTSW	10	26,189,768 (GRCm39)	missense	unknown
R0468:L3mbtl3	UTSW	10	26,203,630 (GRCm39)	missense	unknown
R0497:L3mbtl3	UTSW	10	26,158,772 (GRCm39)	splice site	probably benign
R0586:L3mbtl3	UTSW	10	26,203,732 (GRCm39)	missense	unknown
R0633:L3mbtl3	UTSW	10	26,178,583 (GRCm39)	missense	unknown
R0679:L3mbtl3	UTSW	10	26,189,831 (GRCm39)	nonsense	probably null
R1302:L3mbtl3	UTSW	10	26,203,667 (GRCm39)	missense	unknown
R2128:L3mbtl3	UTSW	10	26,189,766 (GRCm39)	missense	unknown
R2267:L3mbtl3	UTSW	10	26,207,755 (GRCm39)	nonsense	probably null
R3121:L3mbtl3	UTSW	10	26,220,119 (GRCm39)	intron	probably benign
R3410:L3mbtl3	UTSW	10	26,215,197 (GRCm39)	missense	unknown
R4237:L3mbtl3	UTSW	10	26,216,846 (GRCm39)	missense	unknown
R4257:L3mbtl3	UTSW	10	26,156,020 (GRCm39)	missense	unknown
R4308:L3mbtl3	UTSW	10	26,158,690 (GRCm39)	missense	unknown
R4359:L3mbtl3	UTSW	10	26,203,639 (GRCm39)	missense	unknown
R4407:L3mbtl3	UTSW	10	26,189,782 (GRCm39)	missense	unknown
R4613:L3mbtl3	UTSW	10	26,158,693 (GRCm39)	missense	unknown
R4663:L3mbtl3	UTSW	10	26,213,715 (GRCm39)	missense	unknown
R4843:L3mbtl3	UTSW	10	26,207,777 (GRCm39)	missense	unknown
R4886:L3mbtl3	UTSW	10	26,168,668 (GRCm39)	missense	unknown
R5158:L3mbtl3	UTSW	10	26,179,586 (GRCm39)	missense	unknown
R5247:L3mbtl3	UTSW	10	26,203,706 (GRCm39)	missense	unknown
R5580:L3mbtl3	UTSW	10	26,179,604 (GRCm39)	missense	unknown
R5966:L3mbtl3	UTSW	10	26,207,762 (GRCm39)	missense	unknown
R6218:L3mbtl3	UTSW	10	26,168,645 (GRCm39)	missense	unknown
R6508:L3mbtl3	UTSW	10	26,194,325 (GRCm39)	missense	unknown
R6563:L3mbtl3	UTSW	10	26,178,761 (GRCm39)	splice site	probably null
R6709:L3mbtl3	UTSW	10	26,158,695 (GRCm39)	missense	unknown
R6927:L3mbtl3	UTSW	10	26,168,567 (GRCm39)	nonsense	probably null
R6984:L3mbtl3	UTSW	10	26,158,753 (GRCm39)	missense	unknown
R7010:L3mbtl3	UTSW	10	26,158,759 (GRCm39)	critical splice acceptor site	probably null
R7229:L3mbtl3	UTSW	10	26,168,560 (GRCm39)	missense	unknown
R7231:L3mbtl3	UTSW	10	26,215,180 (GRCm39)	missense	unknown
R7296:L3mbtl3	UTSW	10	26,158,728 (GRCm39)	missense	unknown
R7363:L3mbtl3	UTSW	10	26,216,850 (GRCm39)	missense	unknown
R7490:L3mbtl3	UTSW	10	26,215,129 (GRCm39)	missense	unknown
R7775:L3mbtl3	UTSW	10	26,228,215 (GRCm39)	missense	unknown
R7815:L3mbtl3	UTSW	10	26,156,276 (GRCm39)	missense	unknown
R8272:L3mbtl3	UTSW	10	26,179,566 (GRCm39)	missense	unknown
R8762:L3mbtl3	UTSW	10	26,152,121 (GRCm39)	missense	probably damaging	1.00
R8925:L3mbtl3	UTSW	10	26,220,084 (GRCm39)	missense	unknown
R8927:L3mbtl3	UTSW	10	26,220,084 (GRCm39)	missense	unknown
R9043:L3mbtl3	UTSW	10	26,156,152 (GRCm39)	missense	unknown
Z1177:L3mbtl3	UTSW	10	26,178,561 (GRCm39)	missense	unknown
Z1177:L3mbtl3	UTSW	10	26,156,300 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCACCACCTGGAGAGTTAATATAC -3'
(R):5'- CAATGGCTGACTGACCTCTAC -3'

Sequencing Primer
(F):5'- ATCATTAAGACCCCACGG -3'
(R):5'- GGCTGACTGACCTCTACTTTGTTAG -3'

Posted On

2022-02-07