Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:L3mbtl3'

58090

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26150366-26251967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26178583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 568 (H568Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133479 (fasta)

Gene Model

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

AlphaFold

Q8BLB7

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: H568Q

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: H568Q

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: H543Q

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: H543Q

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: H568Q

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: H568Q

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

noncoding transcript
Transcript: ENSMUST00000218585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218665

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,600,511 (GRCm39)	D56G	probably benign	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 81,952,767 (GRCm39)	I222K	probably benign	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
Lgi2	A	G	5: 52,711,802 (GRCm39)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,422,854 (GRCm39)	R104*	probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Sumf1	A	C	6: 108,121,632 (GRCm39)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	probably damaging	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
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
R9228:L3mbtl3	UTSW	10	26,212,155 (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'- CTATGAAGCTCCCCAAATCACCTGG -3'
(R):5'- CCTACACAGTTAGACCTTTAGCTTTCGC -3'

Sequencing Primer
(F):5'- AATTTCAAAAGGGTCTGCCCTC -3'
(R):5'- AGCTTTCGCTTTAACTTGGTCATAC -3'

Posted On

2013-07-11