Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:L3mbtl3'

580689

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26150366-26251967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26215129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 194 (V194I)

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: V219I

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: V219I

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: V194I

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: V194I

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: V219I

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: V219I

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: 99.6%
20x: 98.8%

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
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Chmp6	C	T	11: 119,806,269 (GRCm39)	Q32*	probably null	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dnaaf2	T	C	12: 69,244,380 (GRCm39)	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,707,373 (GRCm39)	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp1r16b	T	C	2: 158,603,388 (GRCm39)	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,840,078 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	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
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'- CGGTTACGTCAAGCCTTCG -3'
(R):5'- TCCAGTGACTCAGTTCAAAACC -3'

Sequencing Primer
(F):5'- ACGTCAAGCCTTCGTTTTTATGGAG -3'
(R):5'- CAAGCGGACCATAGTGTTTTC -3'

Posted On

2019-10-17