Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:L3mbtl3'

375739

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26150366-26251967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26168668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 587 (E587V)

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: E587V

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: E587V

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: E562V

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: E562V

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: E587V

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: E587V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	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
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'- CAGCGAGGGTGTTTCTGAAC -3'
(R):5'- GCAGCAGAGTCCTTCTTGAAATC -3'

Sequencing Primer
(F):5'- CGAGGGTGTTTCTGAACAATGTAAG -3'
(R):5'- ATATCTGAAGTATCTTTAGCCCTGC -3'

Posted On

2016-03-17