Mutagenetix > Incidental Mutations

Incidental Mutation 'R7231:L3mbtl3'

562484

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26274468-26375971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26339282 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 177 (I177F)

Ref Sequence

ENSEMBL: ENSMUSP00000101158 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: I202F

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: I202F

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: I177F

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: I177F

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: I202F

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: I202F

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,294,175	T2013S	probably benign	Het
Ablim3	A	G	18: 61,805,064		probably null	Het
Acvrl1	T	A	15: 101,136,223	C206*	probably null	Het
Adamts15	C	A	9: 30,906,158	R541S	probably damaging	Het
Add3	A	G	19: 53,233,146	I230V	probably benign	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Asxl3	A	T	18: 22,411,499		probably null	Het
Asxl3	A	G	18: 22,517,540	E862G	probably damaging	Het
Atp2b2	G	A	6: 113,765,732	T798M	possibly damaging	Het
Car12	T	C	9: 66,752,317	I208T	probably damaging	Het
Cgn	T	A	3: 94,773,192	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,632,645	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,222,546	V496A	probably benign	Het
Cplx4	C	A	18: 65,957,052	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,224,136	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,609,697	L193P	probably damaging	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Depdc5	C	A	5: 32,901,865	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,532,496	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,813,828	E3218V	probably benign	Het
Dnah9	T	C	11: 65,965,647	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,469,658	G557*	probably null	Het
Eps8l2	A	G	7: 141,360,392	N512D	probably damaging	Het
Fam20a	T	C	11: 109,721,375	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,206,152	S7P	unknown	Het
Fli1	T	C	9: 32,424,188	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Haus8	G	A	8: 71,253,137	T302I	probably benign	Het
Hmcn1	T	C	1: 150,638,876	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,748,417	Q161*	probably null	Het
Hsf4	C	T	8: 105,272,147	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,288,016	W164R		Het
Isl1	A	G	13: 116,303,290	V174A	probably benign	Het
Itih4	A	T	14: 30,896,614	I661F	probably benign	Het
Klhl14	A	T	18: 21,652,136	L78Q	probably damaging	Het
Lingo3	T	A	10: 80,835,104	T331S	possibly damaging	Het
Lrrc36	T	C	8: 105,461,057	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,458,076	S497A	probably benign	Het
Mbip	A	G	12: 56,337,762		probably null	Het
Nelfa	C	T	5: 33,898,825	G498D	probably damaging	Het
Nlrc5	T	A	8: 94,521,805		probably null	Het
Olfr1312	A	T	2: 112,042,366	V222D	probably damaging	Het
Olfr679	T	C	7: 105,085,787	S24P	possibly damaging	Het
Olfr701	A	T	7: 106,818,443	Y120F	probably damaging	Het
Olfr863-ps1	T	A	9: 19,941,559	T294S	unknown	Het
Pde2a	A	G	7: 101,505,953	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,800,957	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,816,188	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,797,658	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,684,060	Y572N	probably benign	Het
Prkcq	T	A	2: 11,290,451	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062	D226V	probably damaging	Het
Rab1b	A	G	19: 5,105,201	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,604,191	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,891	S35R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd15	T	A	12: 87,201,044	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,547,946	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,251,790	H141Q	probably benign	Het
Slc9a3r2	C	T	17: 24,650,104	R16H	probably damaging	Het
Snx21	T	C	2: 164,786,201	S46P	probably benign	Het
Strip2	A	G	6: 29,944,487	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,800,809	P392L	probably damaging	Het
Suclg1	G	A	6: 73,263,971	R161H	probably benign	Het
Tas1r3	T	C	4: 155,862,826	Y134C	probably damaging	Het
Tgif1	T	A	17: 70,846,173	Q114L	probably damaging	Het
Tll2	A	G	19: 41,086,234	F964L	probably benign	Het
Tmem181a	T	C	17: 6,297,920	S247P	possibly damaging	Het
Trav23	A	T	14: 53,977,568	R79S	probably damaging	Het
Trf	C	A	9: 103,225,148	C177F	probably damaging	Het
Triml1	T	C	8: 43,136,371	Y260C	probably benign	Het
Tulp4	T	C	17: 6,236,235	F1513L	probably benign	Het
Umodl1	G	A	17: 30,986,116	V562I	probably damaging	Het
Ush2a	A	G	1: 188,759,763	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,846,961	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,097,638	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 10,053,083	N32K	probably benign	Het
Vps13d	A	G	4: 145,057,462	V3914A		Het
Vwa5b2	A	G	16: 20,604,128	T984A	probably benign	Het
Zc3h3	C	T	15: 75,840,382	V77M	probably damaging	Het
Zfp397	A	T	18: 23,960,358	H300L	probably damaging	Het
Zfp950	G	A	19: 61,119,212	R478C	probably benign	Het

Other mutations in L3mbtl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:L3mbtl3	APN	10	26313846	critical splice donor site	probably null
IGL01357:L3mbtl3	APN	10	26330185	missense	unknown
IGL01712:L3mbtl3	APN	10	26276235	missense	probably damaging	0.96
IGL01759:L3mbtl3	APN	10	26331900	missense	unknown
IGL01928:L3mbtl3	APN	10	26330245	missense	unknown
IGL01955:L3mbtl3	APN	10	26318438	missense	unknown
IGL02674:L3mbtl3	APN	10	26282813	missense	unknown
IGL02731:L3mbtl3	APN	10	26344176	critical splice donor site	probably null
IGL03188:L3mbtl3	APN	10	26342617	missense	unknown
IGL03252:L3mbtl3	APN	10	26331812	splice site	probably benign
IGL03298:L3mbtl3	APN	10	26282798	missense	unknown
IGL03400:L3mbtl3	APN	10	26315526	missense	unknown
R0121:L3mbtl3	UTSW	10	26313870	missense	unknown
R0468:L3mbtl3	UTSW	10	26327732	missense	unknown
R0497:L3mbtl3	UTSW	10	26282874	splice site	probably benign
R0586:L3mbtl3	UTSW	10	26327834	missense	unknown
R0633:L3mbtl3	UTSW	10	26302685	missense	unknown
R0679:L3mbtl3	UTSW	10	26313933	nonsense	probably null
R1302:L3mbtl3	UTSW	10	26327769	missense	unknown
R2128:L3mbtl3	UTSW	10	26313868	missense	unknown
R2267:L3mbtl3	UTSW	10	26331857	nonsense	probably null
R3121:L3mbtl3	UTSW	10	26344221	intron	probably benign
R3410:L3mbtl3	UTSW	10	26339299	missense	unknown
R4237:L3mbtl3	UTSW	10	26340948	missense	unknown
R4257:L3mbtl3	UTSW	10	26280122	missense	unknown
R4308:L3mbtl3	UTSW	10	26282792	missense	unknown
R4359:L3mbtl3	UTSW	10	26327741	missense	unknown
R4407:L3mbtl3	UTSW	10	26313884	missense	unknown
R4613:L3mbtl3	UTSW	10	26282795	missense	unknown
R4663:L3mbtl3	UTSW	10	26337817	missense	unknown
R4843:L3mbtl3	UTSW	10	26331879	missense	unknown
R4886:L3mbtl3	UTSW	10	26292770	missense	unknown
R5158:L3mbtl3	UTSW	10	26303688	missense	unknown
R5247:L3mbtl3	UTSW	10	26327808	missense	unknown
R5580:L3mbtl3	UTSW	10	26303706	missense	unknown
R5966:L3mbtl3	UTSW	10	26331864	missense	unknown
R6218:L3mbtl3	UTSW	10	26292747	missense	unknown
R6508:L3mbtl3	UTSW	10	26318427	missense	unknown
R6563:L3mbtl3	UTSW	10	26302863	intron	probably null
R6709:L3mbtl3	UTSW	10	26282797	missense	unknown
R6927:L3mbtl3	UTSW	10	26292669	nonsense	probably null
R6984:L3mbtl3	UTSW	10	26282855	missense	unknown
R7010:L3mbtl3	UTSW	10	26282861	critical splice acceptor site	probably null
R7229:L3mbtl3	UTSW	10	26292662	missense	unknown
R7296:L3mbtl3	UTSW	10	26282830	missense	unknown
R7363:L3mbtl3	UTSW	10	26340952	missense	unknown
R7490:L3mbtl3	UTSW	10	26339231	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGAAACTCAAAGAATTCTCTGTG -3'
(R):5'- TCCAAAGAGCAACTGGAAATGC -3'

Sequencing Primer
(F):5'- CAAAGAATTCTCTGTGACTGTGGAG -3'
(R):5'- AACTGGAAATGCTCTCTTCCAGTG -3'

Posted On

2019-06-26